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
SLC44A4	80736	broad.mit.edu	37	6	31833747	31833747	+	Missense_Mutation	SNP	C	C	T	rs149591801		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:31833747C>T	ENST00000544672.1	-	14	1458	c.1162G>A	c.(1162-1164)Gtc>Atc	p.V388I	SLC44A4_ENST00000375562.4_Missense_Mutation_p.V422I|SLC44A4_ENST00000229729.6_Missense_Mutation_p.V464I	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	464						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.V464I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAGCGAGGACGCATTGGCCC	0.557000													40	73					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29843734	29843734	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:29843734G>A	ENST00000375398.2	-	7	587	c.138C>T	c.(136-138)agC>agT	p.S46S	SVIL_ENST00000355867.4_Silent_p.S46S|SVIL_ENST00000375400.3_Silent_p.S46S			O95425	SVIL_HUMAN	supervillin	46	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGCAGGGTCGCTGGCTCTCA	0.592000													20	19					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569431	248569431	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:248569431G>A	ENST00000366474.1	+	1	136	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTATATCGGCACAACTGT	0.383000													28	77					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55251777	55251777	+	Missense_Mutation	SNP	C	C	T	rs145786276		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:55251777C>T	ENST00000371276.4	-	5	1002	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TTC22_ENST00000371274.4_Missense_Mutation_p.R300H	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	300							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTTTGCCAGGCGATTCAGGAT	0.502000													19	25					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17899082	17899082	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:17899082C>T	ENST00000594202.1	+	29	2930	c.2651C>T	c.(2650-2652)gCa>gTa	p.A884V	FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000252771.7_Intron|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000600676.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000596536.1_Intron	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	0										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTCACAGCTGCACCCCCACAG	0.647000													13	12					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162825078	162825078	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:162825078C>T	ENST00000367912.1	-	4	557	c.383G>A	c.(382-384)gGc>gAc	p.G128D	C1orf110_ENST00000367911.2_Missense_Mutation_p.G124D|C1orf110_ENST00000367910.1_Missense_Mutation_p.G129D|C1orf110_ENST00000524691.1_Intron			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	129										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCTTTGAGGCCAGCATCATG	0.463000													175	296					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711382	40711382	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:40711382T>C	ENST00000454349.2	+	20	4985	c.4774T>C	c.(4774-4776)Tcc>Ccc	p.S1592P	TNRC6B_ENST00000335727.8_Missense_Mutation_p.S1482P|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S788P|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S788P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1592					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCATATTTCCTCCAGGAACAC	0.537000													7	70					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36242543	36242543	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:36242543C>T	ENST00000400445.3	+	57	9171	c.8637C>T	c.(8635-8637)acC>acT	p.T2879T	NBEA_ENST00000310336.4_Silent_p.T2879T|NBEA_ENST00000379939.2_Silent_p.T2876T|NBEA_ENST00000537702.1_Silent_p.T672T|NBEA_ENST00000379922.3_Silent_p.T457T|NBEA_ENST00000540320.1_Silent_p.T2879T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2879						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCTGGTCACCGGAGGGGACA	0.443000													14	0					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73736211	73736211	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:73736211C>A	ENST00000377110.2	-	1	303	c.60G>T	c.(58-60)ttG>ttT	p.L20F	TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377111.2_Missense_Mutation_p.L20F|TRPM3_ENST00000423814.3_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	20						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCAGGAAAACAAGAAACTGA	0.512000													82	6					1.26005e-42	1.59757e-42	1	1	0
YME1L1	10730	broad.mit.edu	37	10	27437875	27437875	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:27437875T>C	ENST00000326799.3	-	2	276	c.128A>G	c.(127-129)cAt>cGt	p.H43R	YME1L1_ENST00000477432.1_Missense_Mutation_p.H43R|YME1L1_ENST00000375972.3_Missense_Mutation_p.H43R|YME1L1_ENST00000376016.3_Missense_Mutation_p.H43R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	43					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATCTCGATGCTGGTTTTG	0.428000													127	69					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542000													13	48					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811258	7811258	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:7811258C>T	ENST00000381059.3	+	2	233	c.14C>T	c.(13-15)cCg>cTg	p.P5L	VCX_ENST00000341408.4_Missense_Mutation_p.P5L	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	5					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGTCCAAAGCCGAGAGCCTCG	0.622000													30	221					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	16					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785693	111785693	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:111785693C>G	ENST00000261726.6	+	22	4179	c.4025C>G	c.(4024-4026)cCa>cGa	p.P1342R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1342	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATGGACTCCCAAAAGTGGCT	0.642000													42	145					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137942260	137942260	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:137942260C>T	ENST00000469044.1	+	4	495	c.224C>T	c.(223-225)tCa>tTa	p.S75L	ARMC8_ENST00000538260.1_Missense_Mutation_p.S75L|ARMC8_ENST00000461822.1_Missense_Mutation_p.S75L|ARMC8_ENST00000358441.2_Missense_Mutation_p.S61L|ARMC8_ENST00000485396.1_Missense_Mutation_p.S33L|ARMC8_ENST00000489213.1_Missense_Mutation_p.S33L|ARMC8_ENST00000471453.1_Missense_Mutation_p.S61L|ARMC8_ENST00000393058.3_Missense_Mutation_p.S65L|ARMC8_ENST00000481646.1_Missense_Mutation_p.S61L|ARMC8_ENST00000470821.1_Missense_Mutation_p.S75L|ARMC8_ENST00000491704.1_Missense_Mutation_p.S33L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	75							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAAACCTCAAGCACAGAG	0.383000													37	11					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74985231	74985231	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:74985231C>A	ENST00000420843.2	-	11	898	c.801G>T	c.(799-801)acG>acT	p.T267T	ARRB1_ENST00000393505.4_Silent_p.T267T|ARRB1_ENST00000360025.3_Silent_p.T267T	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	267					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGCAGAACGTCGAGCTGG	0.597000													33	239					2.47316e-13	2.90238e-13	1	1	0
TREML2	79865	broad.mit.edu	37	6	41165846	41165846	+	Splice_Site	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:41165846C>T	ENST00000483722.1	-	2	562		c.e2+1			NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2						T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCTGCTCACCTGGAGACAC	0.572000													16	30					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	rs146539241		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTACAACTTCCGGTGGTACAC	0.547000													49	109					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212964986	212964986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:212964986G>T	ENST00000366977.3	-	1	138	c.120C>A	c.(118-120)tgC>tgA	p.C40*	NSL1_ENST00000366975.6_Nonsense_Mutation_p.C40*|NSL1_ENST00000366976.1_Nonsense_Mutation_p.C40*|NSL1_ENST00000422588.2_Nonsense_Mutation_p.C40*	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	40					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTCGAGGTGCAGCGCACCC	0.647000													21	154					3.51602e-12	4.05914e-12	1	1	0
XAF1	54739	broad.mit.edu	37	17	6676464	6676464	+	Silent	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:6676464A>G	ENST00000361842.3	+	7	1121	c.882A>G	c.(880-882)ggA>ggG	p.G294G	XAF1_ENST00000441631.1_Silent_p.G294G|XAF1_ENST00000346752.4_Silent_p.G275G	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	294					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CATCAAAAGGAAAACAAGTGA	0.353000													5	19					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13504291	13504291	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:13504291G>A	ENST00000284110.1	-	1	953	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	52						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCCCACGACGGGGCCGGACA	0.726000													3	4					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898380	47898380	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:47898380T>G	ENST00000289672.2	-	27	4303	c.4253A>C	c.(4252-4254)gAg>gCg	p.E1418A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1418	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCGATGAGCTCAAGCCTCAC	0.493000													20	94					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917215	99917215	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:99917215C>T	ENST00000373004.3	+	4	634	c.206C>T	c.(205-207)gCc>gTc	p.A69V		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	69	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GATGGAGAAGCCACATGCTAC	0.488000													13	123					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33216515	33216515	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:33216515C>G	ENST00000309558.3	-	4	878	c.461G>C	c.(460-462)cGc>cCc	p.R154P		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	154	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding	p.R154H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAGCCGGTGCGGCCCTGCAG	0.567000													40	70					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95162632	95162632	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:95162632C>A	ENST00000371501.4	-	10	981	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	MYOF_ENST00000359263.4_Missense_Mutation_p.V287F|MYOF_ENST00000358334.5_Missense_Mutation_p.V287F|MYOF_ENST00000371502.4_Missense_Mutation_p.V287F|MYOF_ENST00000371489.1_Missense_Mutation_p.V287F			Q9NZM1	MYOF_HUMAN	myoferlin	287					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCATCATAAACAAATCCAACA	0.299000													6	22					0.00198382	0.00208668	1	1	0
PEX14	5195	broad.mit.edu	37	1	10689685	10689685	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:10689685C>A	ENST00000356607.4	+	9	855	c.775C>A	c.(775-777)Cac>Aac	p.H259N	PEX14_ENST00000538836.1_Missense_Mutation_p.H195N	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	259					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGAACCACCACAGCAGCAG	0.642000													55	45					2.29192e-23	2.88011e-23	1	1	0
FCHSD1	89848	broad.mit.edu	37	5	141023864	141023864	+	Missense_Mutation	SNP	C	C	T	rs140791780	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:141023864C>T	ENST00000435817.2	-	17	1834	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R521H|FCHSD1_ENST00000522126.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	595	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCCAACACGGCCCCCAAA	0.632000													3	14					0	0	1	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11652	11652	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrM:11652T>A	ENST00000361381.2	+	1	893	c.893T>A	c.(892-894)gTa>gAa	p.298_298insE						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						AGCCCTCGTAGTAACAGCCAT	0.463000													16	166					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94688101	94688101	+	Missense_Mutation	SNP	C	C	G	rs75784691	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:94688101C>G	ENST00000371552.4	+	9	908	c.879C>G	c.(877-879)gaC>gaG	p.D293E	EXOC6_ENST00000443748.2_Missense_Mutation_p.D275E|EXOC6_ENST00000371547.4_Missense_Mutation_p.D314E|EXOC6_ENST00000260762.6_Missense_Mutation_p.D298E	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	298					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTAGGGTGACGAGGAAACAT	0.333000													17	43					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765622	50765622	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:50765622A>C	ENST00000404971.1	-	11	3371	c.2032T>G	c.(2032-2034)Tat>Gat	p.Y678D	NRXN1_ENST00000402717.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y638D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y638D|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000406316.2_Missense_Mutation_p.Y638D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	638	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACGTAGCCATAGTTGAGCAGA	0.517000													79	154					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	136					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922694	24922694	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:24922694C>T	ENST00000329468.2	+	1	2154	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCACAACAAACGCATCTGCCC	0.473000													44	73					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110397663	110397663	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:110397663G>A	ENST00000360185.4	-	12	1252	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	GIT2_ENST00000547815.1_Missense_Mutation_p.S363L|GIT2_ENST00000553118.1_Missense_Mutation_p.S363L|GIT2_ENST00000355312.3_Missense_Mutation_p.S363L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S362L|GIT2_ENST00000356259.4_Missense_Mutation_p.S363L|GIT2_ENST00000354574.4_Missense_Mutation_p.S365L|GIT2_ENST00000338373.5_Missense_Mutation_p.S363L|GIT2_ENST00000320063.9_Missense_Mutation_p.S363L|GIT2_ENST00000457474.2_Missense_Mutation_p.S365L|GIT2_ENST00000361006.5_Missense_Mutation_p.S363L|GIT2_ENST00000343646.5_Intron			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	363					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTTTGAACCCGAGAGAGAACT	0.453000													5	32					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111336	41111336	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:41111336C>G	ENST00000308370.7	+	6	669	c.669C>G	c.(667-669)caC>caG	p.H223Q	LTBP4_ENST00000204005.9_Missense_Mutation_p.H186Q|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.H156Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	223					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGCGTCCACGTGGAGCACC	0.692000													13	51					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956698	57956698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:57956698G>T	ENST00000334181.4	+	3	2432	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAAGTTAAGGGAATGTGGGAA	0.403000													23	62					2.39556e-15	2.85857e-15	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18881910	18881910	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:18881910C>A	ENST00000388995.6	-	5	1292	c.1069G>T	c.(1069-1071)Gtc>Ttc	p.V357F	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V357F|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V357F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	357										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATCTCGTCGACGCTCTTGGCC	0.627000													34	58					6.00712e-18	7.2907e-18	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682628	100682628	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:100682628C>T	ENST00000306151.4	+	3	7995	c.7931C>T	c.(7930-7932)cCa>cTa	p.P2644L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2644	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCATGCCAGTGGCCAGT	0.463000													133	523					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R367M			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488000													7	21					0.0293803	0.0300144	1	1	0
PROCR	10544	broad.mit.edu	37	20	33764024	33764024	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:33764024A>G	ENST00000216968.4	+	3	458	c.376A>G	c.(376-378)Aga>Gga	p.R126G	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	126					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGAGGGCTCTAGAGCCCATGT	0.607000													33	98					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306665	46306665	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:46306665G>C	ENST00000357422.2	+	4	559	c.16G>C	c.(16-18)Gat>Cat	p.D6H	CCR3_ENST00000395940.2_Missense_Mutation_p.D6H|CCR3_ENST00000541018.1_Missense_Mutation_p.D6H|CCR3_ENST00000395942.2_Missense_Mutation_p.D6H|CCR3_ENST00000545097.1_Missense_Mutation_p.D27H			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	6					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AACCTCACTAGATACAGTTGA	0.438000													8	47					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1278514	1278514	+	RNA	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:1278514G>A	ENST00000430512.2	-	0	1012				TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AGAGCAGGGGGCTTAGGACAG	0.662000													4	10					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117242	109117242	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:109117242A>G	ENST00000261483.4	+	9	2572	c.1520A>G	c.(1519-1521)tAt>tGt	p.Y507C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	507					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGAGTGGCTATTTTACATCC	0.373000													14	25					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003729	119003729	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119003729C>T	ENST00000298472.5	+	3	512	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	123					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGACAAAGACCTCCTGAATG	0.527000													21	85					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901271	103901271	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:103901271G>A	ENST00000278070.2	+	5	3045	c.3006G>A	c.(3004-3006)ttG>ttA	p.L1002L	PPRC1_ENST00000370012.1_5'UTR|PPRC1_ENST00000413464.2_Silent_p.L1002L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1002	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCTCCTTTGCCTCCAGCCT	0.562000													7	73					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49174007	49174007	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49174007G>A	ENST00000270235.4	-	2	332	c.237C>T	c.(235-237)agC>agT	p.S79S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	79						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGAAGCGCAAGCTGACAGATG	0.667000													33	20					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158581178	158581178	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:158581178G>T	ENST00000368148.3	-	52	7316	c.7134_splice	c.e52-1	p.A2379_splice	SPTA1_ENST00000368147.3_Splice_Site_p.A2376_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2379	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGGTAAGGGCCTGAAAAGT	0.458000													11	94					5.50884e-06	5.97141e-06	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:90162462A>G	ENST00000567960.1	+	0	1198				TUBB8P7_ENST00000564451.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													5	86					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	23003128	23003128	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:23003128C>A	ENST00000376573.4	-	1	356	c.128G>T	c.(127-129)tGg>tTg	p.W43L		NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	43	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTTTACCCCCCACATGAGGAC	0.627000													19	31					1.96292e-10	2.21218e-10	1	1	0
PRAM1	84106	broad.mit.edu	37	19	8555562	8555562	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:8555562G>A	ENST00000423345.4	-	7	2342	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F	PRAM1_ENST00000255612.3_Missense_Mutation_p.L607F			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	656							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGATCCCGAGGTGCTTGCCA	0.617000													3	21					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1251811	1251811	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:1251811G>A	ENST00000348261.5	+	9	1609	c.1361G>A	c.(1360-1362)gGc>gAc	p.G454D	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G454D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G454D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	454					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCGAGCCTGGCAGCTGCTAC	0.657000													12	0					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119582946	119582946	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:119582946C>T	ENST00000313400.4	-	12	2257	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	ASTN2_ENST00000361209.2_Silent_p.T668T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.T715T			O75129	ASTN2_HUMAN	astrotactin 2	719	EGF-like 3.					integral to membrane		p.T668T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGGGGCAGCGTCTGCTGCA	0.577000													115	11					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197707534	197707534	+	Silent	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:197707534A>C	ENST00000354764.3	-	26	2655	c.2541T>G	c.(2539-2541)ctT>ctG	p.L847L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	847					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GATCAGGATTAAGTTTAAAAT	0.279000													34	18					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204707	66204707	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:66204707G>C	ENST00000503581.1	-	4	1134	c.597C>G	c.(595-597)agC>agG	p.S199R	EYS_ENST00000393380.2_Missense_Mutation_p.S199R|EYS_ENST00000370616.2_Missense_Mutation_p.S199R|EYS_ENST00000370618.3_Missense_Mutation_p.S199R|EYS_ENST00000370621.3_Missense_Mutation_p.S199R|EYS_ENST00000342421.5_Missense_Mutation_p.S199R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	199	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGCAATGGCAGCTATATGTCT	0.398000													9	37					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158857	18158857	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:18158857C>T	ENST00000396275.2	+	3	469	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	36						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACGTGCATCGTTTCCCTTG	0.582000													5	259					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71874719	71874719	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:71874719G>A	ENST00000307864.1	-	8	1140	c.927C>T	c.(925-927)atC>atT	p.I309I	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Silent_p.I309I	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	309					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGAGTTGACGATGTTGGCCA	0.577000													10	37					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49775991	49775991	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:49775991G>A	ENST00000492622.2	+	24	3348	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E959K|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E1015K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1015	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACTTAATGAGTCAACATC	0.358000													32	8					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113488914	113488914	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:113488914C>T	ENST00000487903.1	+	15	1659	c.1571C>T	c.(1570-1572)aCc>aTc	p.T524I	ATP11A_ENST00000283558.8_Missense_Mutation_p.T524I|ATP11A_ENST00000375630.2_Missense_Mutation_p.T524I|ATP11A_ENST00000375645.3_Missense_Mutation_p.T524I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	524					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTTGGCTTTACCTACCTAAGG	0.423000													49	214					0	0	1	0	0
TEX13B	0	broad.mit.edu	37	X	107225158	107225158	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:107225158C>A	ENST00000302917.1	-	2	292	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	67										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCCCCAGGTGCAGGCCTCTTT	0.592000													165	18					9.28845e-81	1.21005e-80	1	1	0
MESDC1	59274	broad.mit.edu	37	15	81294956	81294956	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:81294956T>C	ENST00000267984.2	+	1	1662	c.344T>C	c.(343-345)cTg>cCg	p.L115P		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	115										endometrium(1)|lung(2)	3						CTGGTGGAGCTGGGCGACCTG	0.726000													3	16					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132202305	132202305	+	Silent	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:132202305C>G	ENST00000260818.6	+	28	3314	c.3066C>G	c.(3064-3066)tcC>tcG	p.S1022S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1022							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CACTTCAGTCCATACCCCAGC	0.458000													11	84					0	0	1	0	0
NCOR1P1	0	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1													p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378000													3	27					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23167294	23167294	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:23167294G>A	ENST00000389131.3	-	10	2136	c.1767C>T	c.(1765-1767)ccC>ccT	p.P589P		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	589	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCCCGTGGTGGGGTCGGTCT	0.662000													8	48					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7534894	7534894	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7534894C>A	ENST00000359920.6	+	18	3581	c.3328C>A	c.(3328-3330)Cac>Aac	p.H1110N	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.D1067E|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.H952N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1110	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCCGGCAGACACAGTCCTGC	0.662000													4	108					0.150653	0.151722	1	1	0
NOS1	4842	broad.mit.edu	37	12	117703237	117703237	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:117703237G>A	ENST00000317775.6	-	12	2705	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R674W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	674					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCCCCCCCGGCAGCGGTAC	0.607000													9	8					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149356602	149356602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:149356602C>A	ENST00000355292.3	-	2	1773	c.1411G>T	c.(1411-1413)Gga>Tga	p.G471*	NR3C2_ENST00000511528.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000342437.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.G471*			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	471	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCTAAAATTCCTGATAGGGAA	0.433000													23	48					3.62473e-10	4.05285e-10	1	1	0
MALAT1	0	broad.mit.edu	37	11	65271184	65271184	+	RNA	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:65271184T>G	ENST00000534336.1	+	0	5952					NR_002819.2																						GGGGGGATTCTTCTCTAATCT	0.363000													44	44					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46725698	46725698	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:46725698C>T	ENST00000371975.4	+	5	1008	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P112S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	112					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCTCCATGACCCCCTGGAAAA	0.537000								Direct reversal of damage;Homologous recombination					93	84					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46274875	46274875	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46274875G>A	ENST00000600757.1	-	11	2253	c.1566C>T	c.(1564-1566)gtC>gtT	p.V522V	AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000458663.2_Silent_p.V512V|DMPK_ENST00000447742.2_Silent_p.V512V|DMPK_ENST00000343373.4_Silent_p.V527V|DMPK_ENST00000291270.4_Silent_p.V517V|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000354227.5_Silent_p.V512V|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	527					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAACTGCCGGACGTGTGCCT	0.672000													18	51					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13852	13852	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrM:13852T>A	ENST00000361567.2	+	1	1516	c.1516T>A	c.(1516-1518)Tac>Aac	p.Y506N				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	506					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TAGACCTCAACTACCTAACCA	0.463000													14	143					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840559	142840559	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:142840559C>T	ENST00000309575.3	+	2	2285	c.901C>T	c.(901-903)Cta>Tta	p.L301L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	301					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTACCGCACACTAGTCATAAA	0.647000													4	17					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385313	108385313	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:108385313T>C	ENST00000265843.4	-	6	1031	c.921A>G	c.(919-921)aaA>aaG	p.K307K	EXPH5_ENST00000525344.1_Silent_p.K300K|EXPH5_ENST00000443411.1_Silent_p.K119K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.K231K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	307					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATAATCTTCTTTAAAGACTC	0.438000													12	23					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26235493	26235493	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:26235493T>C	ENST00000354667.4	-	8	899	c.731A>G	c.(730-732)tAt>tGt	p.Y244C	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y232C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	244	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATACCCATTATAGCCATCCCC	0.363000			T	ETV1	prostate								54	19					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703957	40703957	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:40703957C>T	ENST00000372771.4	+	8	3610	c.3583C>T	c.(3583-3585)Cat>Tat	p.H1195Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1195					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAAATAAACATCAAATTGG	0.358000													31	32					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27945807	27945807	+	Splice_Site	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:27945807C>G	ENST00000345068.5	-	5	847		c.e5+1		CORO6_ENST00000445145.2_Splice_Site|CORO6_ENST00000584969.1_Splice_Site|CORO6_ENST00000388767.3_Splice_Site|CORO6_ENST00000580212.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6						actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGGCACTCACCGCCACCACT	0.602000													15	25					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20216367	20216367	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:20216367T>A	ENST00000412997.1	-	6	1007	c.656A>T	c.(655-657)aAg>aTg	p.K219M	SGOL1_ENST00000421451.1_Missense_Mutation_p.K219M|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.K219M|SGOL1_ENST00000412868.1_Missense_Mutation_p.K219M|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	219					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAAAAGACTTCCCTGCCAA	0.373000													5	79					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043162	119043162	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119043162G>A	ENST00000334464.5	-	5	3321	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1028					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCTCTGTAGGCAAGCCCCTG	0.403000													6	125					0	0	1	0	0
C7orf49	78996	broad.mit.edu	37	7	134851483	134851483	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:134851483C>A	ENST00000424142.1	-	4	791	c.189G>T	c.(187-189)ctG>ctT	p.L63L	C7orf49_ENST00000483029.2_Silent_p.L63L|C7orf49_ENST00000393114.3_Silent_p.L118L|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.L117L	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	118						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GGCCTGGAGCCAGTGCCTGTT	0.627000													29	79					1.80694e-10	2.05269e-10	1	1	0
GLRA3	8001	broad.mit.edu	37	4	175649822	175649822	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:175649822G>C	ENST00000274093.3	-	4	797	c.295C>G	c.(295-297)Cag>Gag	p.Q99E	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	99					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)	TTCCATTTCTGACGAAGAAAG	0.378000													24	68					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950683	7950683	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7950683A>T	ENST00000380183.4	+	11	1704	c.1565A>T	c.(1564-1566)aAc>aTc	p.N522I	ALOX15B_ENST00000380173.2_Missense_Mutation_p.N493I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.N510I|ALOX15B_ENST00000573359.1_Intron	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	522	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GGCTTCCTAAACCAGGAGAGC	0.567000													8	34					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388056	104388056	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:104388056C>G	ENST00000330295.5	+	2	383	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CTHRC1_ENST00000415886.2_Missense_Mutation_p.P81A|CTHRC1_ENST00000520337.1_Missense_Mutation_p.P67A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	81	Collagen-like.					collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ACCTGGGATCCCAGGTCGGGA	0.527000													18	123					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106730	27106730	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:27106730C>A	ENST00000324856.7	+	20	6712	c.6341C>A	c.(6340-6342)cCg>cAg	p.P2114Q	ARID1A_ENST00000540690.1_Missense_Mutation_p.P442Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1731Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1897Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2114					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCTTTCCCCGCAGAGACTG	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								60	137					7.47603e-22	9.23127e-22	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43252989	43252989	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:43252989G>T	ENST00000255226.6	+	17	3170	c.2354G>T	c.(2353-2355)gGa>gTa	p.G785V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G785V|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G262V|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	785						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCAATTGGATCCACCATG	0.527000													37	122					1.47197e-15	1.77135e-15	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113312294	113312294	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:113312294C>A	ENST00000401783.2	-	2	958	c.622G>T	c.(622-624)Gca>Tca	p.A208S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.A185S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A208S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A185S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	208	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTGACGCTGCAATTGGTCTA	0.443000													23	85					6.44725e-10	7.15242e-10	1	1	0
C9orf9	11092	broad.mit.edu	37	9	135762851	135762851	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:135762851C>T	ENST00000372136.3	+	3	687	c.240C>T	c.(238-240)tgC>tgT	p.C80C	C9orf9_ENST00000356311.5_Silent_p.C80C|C9orf9_ENST00000350499.6_Silent_p.C80C			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	80								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		ATAAGCTCTGCCAGCACTTTG	0.537000													31	225					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302838	163302838	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:163302838A>T	ENST00000332142.5	-	7	1343	c.1244T>A	c.(1243-1245)cTg>cAg	p.L415Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.L408Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	415					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GACCAACAGCAGGATAAGCCA	0.453000													5	25					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15159	15159	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrM:15159T>A	ENST00000361789.2	+	1	413	c.413T>A	c.(412-414)aTa>aAa	p.138_138insK						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GTGAGGCCAAATATCATTCTG	0.458000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	10	131					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692893	89692893	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:89692893C>A	ENST00000371953.3	+	5	1734	c.377C>A	c.(376-378)gCt>gAt	p.A126D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	126	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			81	51					3.31034e-53	4.23485e-53	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42360910	42360910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr14:42360910G>T	ENST00000298119.4	+	4	3032	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	615						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCAATCTTCAGAAACTTGTTC	0.483000										HNSCC(30;0.082)			16	36					0.000308642	0.000329528	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126733148	126733148	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:126733148C>A	ENST00000251772.4	+	11	2534	c.2465C>A	c.(2464-2466)gCc>gAc	p.A822D	PLXNA1_ENST00000393409.2_Missense_Mutation_p.A845D			Q9UIW2	PLXA1_HUMAN	plexin A1	845					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACTGCGCTGCCGACACACCT	0.711000													4	25					0.150653	0.151722	1	1	0
TRMT10B	158234	broad.mit.edu	37	9	37776300	37776300	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:37776300C>T	ENST00000297994.3	+	8	807	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TRMT10B_ENST00000537911.1_Missense_Mutation_p.R197W|TRMT10B_ENST00000377754.2_Missense_Mutation_p.R153W|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.R170W	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		TCAAAAGGCCCGGGAATACTC	0.338000													11	4					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542810	14542810	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:14542810G>T	ENST00000358970.5	-	1	335	c.336C>A	c.(334-336)agC>agA	p.S112R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592000													121	163					1.19196e-58	1.53871e-58	1	1	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			26	0					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110588205	110588205	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:110588205G>T	ENST00000399066.3	-	6	1640	c.913C>A	c.(913-915)Cgc>Agc	p.R305S	SYBU_ENST00000528647.1_Missense_Mutation_p.R307S|SYBU_ENST00000533065.1_Missense_Mutation_p.R189S|SYBU_ENST00000529690.1_Missense_Mutation_p.R178S|SYBU_ENST00000533895.1_Missense_Mutation_p.R307S|SYBU_ENST00000422135.1_Missense_Mutation_p.R308S|SYBU_ENST00000529175.1_Missense_Mutation_p.R102S|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000446070.2_Missense_Mutation_p.R307S|SYBU_ENST00000408908.2_Missense_Mutation_p.R308S|SYBU_ENST00000424158.2_Missense_Mutation_p.R313S|SYBU_ENST00000440310.1_Missense_Mutation_p.R308S|SYBU_ENST00000433638.1_Missense_Mutation_p.R308S|SYBU_ENST00000276646.9_Missense_Mutation_p.R308S|SYBU_ENST00000419099.1_Missense_Mutation_p.R307S|SYBU_ENST00000528331.1_Missense_Mutation_p.R189S|SYBU_ENST00000408889.3_Missense_Mutation_p.R189S|SYBU_ENST00000533171.1_Missense_Mutation_p.R308S|SYBU_ENST00000532779.1_Missense_Mutation_p.R240S	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	308	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCGCATGCGGGCCAGCTGG	0.433000													24	66					2.21704e-12	2.58048e-12	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48673986	48673986	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:48673986C>A	ENST00000334136.5	+	16	1439	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	HDAC6_ENST00000376619.2_Missense_Mutation_p.Q421K|HDAC6_ENST00000444343.2_Missense_Mutation_p.Q435K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	421					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTGCAGTGCCCAGGCTTCAGT	0.617000													23	88					2.89027e-11	3.30982e-11	1	1	0
PARD3	56288	broad.mit.edu	37	10	34400456	34400456	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:34400456C>G	ENST00000374789.3	-	25	4037	c.3712G>C	c.(3712-3714)Gac>Cac	p.D1238H	PARD3_ENST00000374790.3_Missense_Mutation_p.D1178H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1192H|PARD3_ENST00000545260.1_Missense_Mutation_p.D1148H|PARD3_ENST00000545693.1_Missense_Mutation_p.D1222H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1201H|PARD3_ENST00000374794.3_Missense_Mutation_p.D1126H|PARD3_ENST00000374788.3_Missense_Mutation_p.D1235H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1238					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCCAAGAGTCCTGGGAGACC	0.567000													32	51					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77224706	77224706	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:77224706A>C	ENST00000394885.3	+	2	372	c.149A>C	c.(148-150)gAt>gCt	p.D50A	RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.D50A	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	50						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CTAAAGGAAGATGTGGATGAA	0.473000													15	7					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212812	26212812	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:26212812G>A	ENST00000379034.1	+	2	998	c.849G>A	c.(847-849)ccG>ccA	p.P283P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	283	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGCGCTGCCGAAGTCGGGTC	0.527000													30	271					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	8					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627055	108627055	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:108627055T>G	ENST00000264047.2	+	9	1757	c.1481T>G	c.(1480-1482)aTc>aGc	p.I494S	SLC5A7_ENST00000540517.1_Missense_Mutation_p.I389S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I494S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	494					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AACATTTGCATCTCCTATCTA	0.353000													8	22					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172411608	172411608	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:172411608A>T	ENST00000367728.1	-	1	1618	c.155T>A	c.(154-156)gTa>gAa	p.V52E	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.V52E|PIGC_ENST00000344529.4_Missense_Mutation_p.V52E|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	52					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GGACTCAAATACCACAGCCCA	0.493000													53	273					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166896409	166896409	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:166896409C>G	ENST00000271417.3	-	7	944	c.889G>C	c.(889-891)Ggt>Cgt	p.G297R	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.G189R|ILDR2_ENST00000469934.2_Missense_Mutation_p.G297R|ILDR2_ENST00000529071.1_Missense_Mutation_p.G278R|ILDR2_ENST00000528703.1_Missense_Mutation_p.G238R|ILDR2_ENST00000525740.1_Missense_Mutation_p.G170R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	297						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATCCGGTAACCTTTGCGAACT	0.448000													5	177					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48614536	48614536	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:48614536C>G	ENST00000297423.4	+	14	2320	c.1936C>G	c.(1936-1938)Cgt>Ggt	p.R646G	SPIDR_ENST00000517693.1_Missense_Mutation_p.R121G|SPIDR_ENST00000518074.1_Missense_Mutation_p.R586G|SPIDR_ENST00000541342.1_Missense_Mutation_p.R576G|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		TCTTGGTACCCGTTGCAGTTT	0.423000													13	73					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231954196	231954196	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:231954196G>C	ENST00000439617.2	+	9	1967	c.1914G>C	c.(1912-1914)aaG>aaC	p.K638N	DISC1_ENST00000539444.1_3'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.K638N|DISC1_ENST00000366633.3_Missense_Mutation_p.K638N|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.K638N|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.K638N	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	638	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGTCAAAAAGCTGGGAAGTG	0.478000													34	136					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760563	102760563	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:102760563C>T	ENST00000417955.1	-	3	556	c.402G>A	c.(400-402)acG>acA	p.T134T	NAPEPLD_ENST00000455523.2_Silent_p.T207T|NAPEPLD_ENST00000465647.1_Silent_p.T134T|NAPEPLD_ENST00000341533.4_Silent_p.T134T|NAPEPLD_ENST00000427257.1_Silent_p.T134T			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	134					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCACCATTACCGTGGCATGTC	0.478000													52	63					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9074741	9074741	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:9074741G>T	ENST00000457346.2	-	12	1426	c.1352C>A	c.(1351-1353)aCa>aAa	p.T451K	SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T451K|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.T451K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	451						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGACACACTTGTGGGCAGGAG	0.532000													34	5					2.48696e-23	3.09779e-23	1	1	0
ZNF638	27332	broad.mit.edu	37	2	71653747	71653747	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:71653747A>T	ENST00000409544.1	+	24	5378	c.4748A>T	c.(4747-4749)aAg>aTg	p.K1583M	ZNF638_ENST00000264447.4_Missense_Mutation_p.K1583M|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.K523M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1583	Poly-Lys.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGAAGAAAAAGGGGAAAACT	0.418000													10	44					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90432736	90432736	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:90432736G>C	ENST00000369393.3	-	40	6020	c.5905C>G	c.(5905-5907)Cct>Gct	p.P1969A	MDN1_ENST00000428876.1_Missense_Mutation_p.P1969A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1969					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTGACCAGGATCATAACAC	0.468000													34	247					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139824130	139824130	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:139824130G>T	ENST00000303045.6	-	9	1807	c.1361C>A	c.(1360-1362)cCa>cAa	p.P454Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P454Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	454	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGTGGGGGTGGAGGTGGAGG	0.597000										HNSCC(7;0.00092)			11	9					3.86212e-05	4.1547e-05	1	1	0
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617000			Mis		clear cell ovarian carcinoma								59	41					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25585840	25585840	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:25585840C>A	ENST00000269141.3	-	6	1243	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	CDH2_ENST00000399380.3_Missense_Mutation_p.G243W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	274	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAACTGTCCCATTCCAAACC	0.388000													28	106					1.55811e-20	1.90734e-20	1	1	0
PPP1R3F	89801	broad.mit.edu	37	X	49142813	49142813	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:49142813C>T	ENST00000055335.6	+	4	1677	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	554						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647000													38	15					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955417	141955417	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:141955417C>A	ENST00000552471.1	-	2	436	c.117G>T	c.(115-117)ttG>ttT	p.L39F	PRSS58_ENST00000547058.2_Missense_Mutation_p.L39F			Q8IYP2	PRS58_HUMAN	protease, serine, 58	39	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAGCGCAGGGCAAGTAGTCAG	0.483000													25	70					1.64293e-13	1.94414e-13	1	1	0
COL27A1	85301	broad.mit.edu	37	9	117068960	117068960	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:117068960T>G	ENST00000356083.3	+	58	5490	c.5099T>G	c.(5098-5100)aTg>aGg	p.M1700R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1700	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGCAGAAGATGGTGGATGGT	0.607000											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	39					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152331526	152331526	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:152331526T>G	ENST00000243326.4	+	35	7843	c.7360T>G	c.(7360-7362)Tct>Gct	p.S2454A	RIF1_ENST00000428287.2_Missense_Mutation_p.S2428A|RIF1_ENST00000453091.2_Missense_Mutation_p.S2428A|RIF1_ENST00000444746.2_Missense_Mutation_p.S2454A|RIF1_ENST00000430328.2_Missense_Mutation_p.S2428A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2454	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATGGCAAACTCTGTAATAAA	0.343000													4	25					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581487	40581487	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:40581487G>A	ENST00000450241.2	-	6	1071	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R288C|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R288C|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R254C(1)|p.R289C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.388000													78	128					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207499029	207499029	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:207499029T>C	ENST00000367064.3	+	4	799	c.541T>C	c.(541-543)Tta>Cta	p.L181L	CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.L181L|CD55_ENST00000391921.4_Silent_p.L117L|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Silent_p.L181L|CD55_ENST00000367062.4_Silent_p.L181L|CD55_ENST00000367065.5_Silent_p.L181L|CD55_ENST00000367063.2_Silent_p.L181L	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	181	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGGTGGCATATTATTTGGTGC	0.343000													18	53					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97172606	97172606	+	Nonsense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:97172606G>C	ENST00000287020.5	-	1	414	c.315C>G	c.(313-315)taC>taG	p.Y105*		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	105					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAGCGATGGAGTAAGTCCTGT	0.597000													56	199					0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7743070	7743070	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7743070C>T	ENST00000333598.3	+	3	719	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	C19orf59_ENST00000597445.1_Missense_Mutation_p.L46F	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	89						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CCTGTACATCCTCCTGGCCCT	0.592000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	188					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505081	159505081	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:159505081G>A	ENST00000334857.2	-	1	761	c.717C>T	c.(715-717)acC>acT	p.T239T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGGAGACACAGGTGGCAAAGG	0.478000													6	130					0	0	1	0	0
RP11-262H14.1	0	broad.mit.edu	37	9	66457330	66457330	+	RNA	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:66457330G>T	ENST00000424345.1	+	0	42																											cagcgacagagccttggagag	0.632000													3	7					0.004672	0.00487812	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	362	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547000													33	6					0	0	1	0	0
RP11-54O7.17	0	broad.mit.edu	37	1	931722	931722	+	RNA	DEL	G	G	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:931722delG	ENST00000606034.1	-	0	1709																											AGGCCCCCCCGCGGGAAGAGG	0.697													2	4	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													5	5	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142672518	142672519	+	RNA	DEL	AT	AT	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:142672518_142672519delAT	ENST00000369381.2	-	0	2507																											ggcctcactgatcaggTTCCAC	0.584													2	4	---	---	---	---					
RP11-403I13.7	0	broad.mit.edu	37	1	149285546	149285547	+	RNA	INS	-	-	A	rs144216017	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:149285546_149285547insA	ENST00000424684.1	+	0	254					NR_046136.1|NR_046138.1|NR_046139.1																						ttctgtctctcaaaaaaaaTGC	0.525													5	6	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:154842200_154842202delGCT	ENST00000271915.3	-	1	554_556	c.239_241delAGC	c.(238-243)cca>c	p.QP80del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.700													7	30	---	---	---	---					
LYST	1130	broad.mit.edu	37	1	235955054	235955055	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:235955054_235955055insTTTT	ENST00000389794.3	-	12	4661_4662	c.4487_4488insAAAA	c.(4486-4488)aatfs	p.N1496fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.N1496fs|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1496					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTCTTTATCTTCTTTCCTTT	0.361													80	53	---	---	---	---					
RP11-680B3.2	0	broad.mit.edu	37	3	148582959	148582960	+	RNA	INS	-	-	A	rs143382113		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:148582959_148582960insA	ENST00000488190.1	-	0	304																											TCTCCAGCTGGAAAAAAAAAAC	0.436													3	3	---	---	---	---					
SLC10A6	345274	broad.mit.edu	37	4	87769940	87769941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:87769940_87769941insT	ENST00000273905.6	-	1	475_476	c.328_329insA	c.(328-330)catfs	p.H110fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	110						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTTAGAGATGGTGCCCCCCGGG	0.515													61	33	---	---	---	---					
LINC00616	0	broad.mit.edu	37	4	138978086	138978095	+	RNA	DEL	CTTGCAGGAA	CTTGCAGGAA	-	rs67079742		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:138978086_138978095delCTTGCAGGAA	ENST00000514600.1	-	0	870					NR_037866.1																						GCAGAAAACTCTTGCAGGAACTTGCAGGAA	0.543													4	2	---	---	---	---					
RP11-371F15.3	0	broad.mit.edu	37	4	139905238	139905238	+	RNA	DEL	T	T	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:139905238delT	ENST00000511951.1	-	0	161																											acccttctcattttttttttt	0.463													3	4	---	---	---	---					
RP11-161D15.2	0	broad.mit.edu	37	4	174817851	174817851	+	RNA	DEL	T	T	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:174817851delT	ENST00000502956.1	-	0	470																											CAGCACAGCCTTTCATTCCTG	0.468													2	4	---	---	---	---					
RP11-420L9.4	0	broad.mit.edu	37	6	3833660	3833661	+	RNA	DEL	GT	GT	-	rs145782566	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:3833660_3833661delGT	ENST00000602854.1	+	0	79																											aaccaggaccgtgtgtgtgTGG	0.441													2	4	---	---	---	---					
AKAP12	9590	broad.mit.edu	37	6	151670243	151670244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:151670243_151670244insT	ENST00000402676.2	+	4	957_958	c.717_718insT	c.(715-720)ccaagafs	p.R240fs	AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.R240fs|AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.R142fs|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.R135fs	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	240			E -> K (in a colorectal cancer sample; somatic mutation).		G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.E240K(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAGAAACCCGAAGAGACCCT	0.559													25	245	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161507690	161507691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:161507690_161507691insT	ENST00000392142.4	+	9	2695_2696	c.2547_2548insT	c.(2545-2550)caatgtfs	p.QC849fs	MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.QC849fs	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	849					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AATCAAAACAGTATGTCAAGGT	0.381													19	29	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100373941	100373948	+	RNA	DEL	AGGGAGGG	AGGGAGGG	-	rs3991185		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:100373941_100373948delAGGGAGGG	ENST00000542585.1	+	0	6337				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			actTGAaggaagggagggagggagggag	0.553													3	3	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													5	7	---	---	---	---					
ERICH1-AS1	0	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA																							GGTGGCTGGCAGGGCAGGGTGG	0.713													2	4	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100887728	100887728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:100887728delC	ENST00000358544.2	+	62	12014	c.11903delC	c.(11902-11904)gcfs	p.A3968fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.A3943fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3968					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTCACCTGGCCCCCAGCTGT	0.478													29	123	---	---	---	---					
WNK2	65268	broad.mit.edu	37	9	96021235	96021245	+	Frame_Shift_Del	DEL	CCCCCATCACG	CCCCCATCACG	-	rs149576658		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:96021235_96021245delCCCCCATCACG	ENST00000297954.4	+	11	2405_2415	c.2405_2415delCCCCCATCACG	c.(2404-2415)cfs	p.PPIT802fs	WNK2_ENST00000349097.3_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000427277.2_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.PPIT736fs|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Frame_Shift_Del_p.PPIT802fs			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	802					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGTTGTGCCCCCCATCACGCCCCTGGCGG	0.649													13	33	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													9	16	---	---	---	---					
RP11-783K16.14	0	broad.mit.edu	37	11	63997567	63997567	+	RNA	DEL	A	A	-	rs11364788		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													4	8	---	---	---	---					
RP11-766N7.3	0	broad.mit.edu	37	12	65320679	65320679	+	RNA	DEL	A	A	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:65320679delA	ENST00000535058.1	+	0	594				RP11-766N7.4_ENST00000510459.2_lincRNA	NR_033988.1																						ttttaatcataaagcaatgct	0.313													2	4	---	---	---	---					
RP11-567L7.6	0	broad.mit.edu	37	17	57577837	57577837	+	RNA	DEL	G	G	-	rs60239841		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:57577837delG	ENST00000584262.1	-	0	583																											ggagggagatgggggggggtc	0.761													4	2	---	---	---	---					
RP11-101O21.1	0	broad.mit.edu	37	17	72067564	72067564	+	RNA	DEL	A	A	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:72067564delA	ENST00000584003.1	-	0	515																											AGCAGGAGGGAATGATCACAT	0.572													2	4	---	---	---	---					
CTD-2357A8.3	0	broad.mit.edu	37	17	76618042	76618043	+	RNA	INS	-	-	C	rs141399035	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:76618042_76618043insC	ENST00000586185.1	-	0	594																											ACCTCCCCAGGCCAGGATGCCC	0.619													6	0	---	---	---	---					
AATK-AS1	0	broad.mit.edu	37	17	79143787	79143788	+	RNA	DEL	TG	TG	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:79143787_79143788delTG	ENST00000414089.1	+	0	409				AATK-AS1_ENST00000571031.1_RNA	NR_027255.1																						tgtgtgtgcatgtgtgtgtgtt	0.465													7	1	---	---	---	---					
SYMPK	8189	broad.mit.edu	37	19	46320139	46320139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46320139delG	ENST00000245934.7	-	24	3419	c.3175delC	c.(3175-3177)agfs	p.Q1060fs	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1060					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCCAGCTGCTGGGGCGGCAGC	0.652											OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
PLEKHA4	0	broad.mit.edu	37	19	49362194	49362200	+	Frame_Shift_Del	DEL	GGCGGGG	GGCGGGG	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49362194_49362200delGGCGGGG	ENST00000263265.6	-	8	1444_1450	c.889_895delCCCCGCC	c.(889-897)gafs	p.PRR297fs	PLEKHA4_ENST00000355496.5_Frame_Shift_Del_p.PRR297fs|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	297	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGAGGTCCTCGGCGGGGAGTAGGGGGT	0.662													29	103	---	---	---	---					
ESF1	51575	broad.mit.edu	37	20	13695536	13695537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:13695536_13695537insT	ENST00000202816.1	-	14	2647_2648	c.2540_2541insA	c.(2539-2541)acafs	p.T847fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	847	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGACTTTTTGCTTTTTTCTTGC	0.302													24	13	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11073982	11073982	+	RNA	DEL	T	T	-	rs58848388		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr21:11073982delT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaataactgcttttttcatgg	0.274													2	4	---	---	---	---					
LTN1	26046	broad.mit.edu	37	21	30302792	30302799	+	Frame_Shift_Del	DEL	AGTGGACA	AGTGGACA	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr21:30302792_30302799delAGTGGACA	ENST00000361371.4	-	30	5422_5429	c.5272_5279delTGTCCACT	c.(5272-5280)gfs	p.CPL1758fs	LTN1_ENST00000389194.2_Frame_Shift_Del_p.CPL1804fs	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1758							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTCACGACACAGTGGACAAGTGGATTTG	0.361													22	58	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)del	p.Q174del	MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	98	---	---	---	---					
