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
DTX1	1840	broad.mit.edu	37	12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	509					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652000													21	117					0	0	0.706142	0	0
CDH5	1003	broad.mit.edu	37	16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGGGGAAAGAGTATTTTGC	0.527000													23	122					0	0	0.681144	0	0
ARIH2	10425	broad.mit.edu	37	3	49004609	49004609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:49004609C>T	ENST00000356401.4	+	6	778	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	147					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCAGTTTGTGCGAAAGGAAAA	0.572000													14	145					0	0	0.500413	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655514	38655514	+	Silent	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38655514G>A	ENST00000222345.6	+	15	4685	c.4176G>A	c.(4174-4176)gcG>gcA	p.A1392A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1392					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGGACTGGCGGGGGGCAGCC	0.657000													10	26					0	0	0.411799	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123127403	123127403	+	Silent	SNP	G	G	A	rs41292582	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:123127403G>A	ENST00000368440.4	+	7	1122	c.945G>A	c.(943-945)gtG>gtA	p.V315V	SMPDL3A_ENST00000539041.1_Silent_p.V184V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	315					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CTTTGTTTGTGGCTCCTGCTG	0.323000													7	32					0	0	0.307466	0	0
IPO5	3843	broad.mit.edu	37	13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr13:98655152A>G	ENST00000261574.5	+	16	1592	c.1412A>G	c.(1411-1413)cAa>cGa	p.Q471R	IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	453					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453000													6	20					0	0	0.217242	0	0
KCTD1	284252	broad.mit.edu	37	18	24128246	24128246	+	Silent	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr18:24128246C>T	ENST00000417602.1	-	1	254	c.255G>A	c.(253-255)ctG>ctA	p.L85L	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cgtcctcctccagccccccac	0.697000													2	2					0	0	0.115264	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874185	88874185	+	Splice_Site	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488000													4	17					0	0	0.150653	0	0
SYCP1	6847	broad.mit.edu	37	1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318000													12	58					1.05317e-09	1.32791e-09	0.457914	1	0
PLEKHA4	0	broad.mit.edu	37	19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH.					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)		GCTCCCGGCCCATCTGGTCTA	0.612000													7	78					0.0477658	0.0532772	0.307466	1	0
SCYL2	55681	broad.mit.edu	37	12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343000													3	41					0	0	0.115264	0	0
ZFHX3	463	broad.mit.edu	37	16	72830348	72830348	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:72830348G>A	ENST00000268489.5	-	9	6905	c.6233C>T	c.(6232-6234)cCg>cTg	p.P2078L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2078					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCTGGGCCGGTGCAATTGT	0.672000													3	93					0	0	0.115264	0	0
VRTN	55237	broad.mit.edu	37	14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567000													24	74					0	0	0.717897	0	0
OPA1	4976	broad.mit.edu	37	3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:193361334G>A	ENST00000361510.2	+	15	1629	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308000													11	46					0	0	0.387290	0	0
TEP1	7011	broad.mit.edu	37	14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542000													17	88					0	0	0.592651	0	0
COL25A1	84570	broad.mit.edu	37	4	109740459	109740459	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:109740459T>C	ENST00000399132.1	-	36	2402	c.1872A>G	c.(1870-1872)aaA>aaG	p.K624K		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	624	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453000													3	50					0	0	0.150653	0	0
AKR7L	246181	broad.mit.edu	37	1	19597014	19597014	+	RNA	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597014G>T	ENST00000420396.2	-	0	437				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622000													3	74					0.00116845	0.0013554	0.217242	1	0
AKR7L	246181	broad.mit.edu	37	1	19597040	19597040	+	RNA	SNP	C	C	T	rs114623957	by1000genomes	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597040C>T	ENST00000420396.2	-	0	411				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617000													4	56					0	0	0.184627	0	0
YTHDC1	91746	broad.mit.edu	37	4	69198540	69198540	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328000													4	46					0	0	0.217242	0	0
SRRM2	23524	broad.mit.edu	37	16	2817170	2817170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:2817170C>T	ENST00000301740.8	+	11	7190	c.6641C>T	c.(6640-6642)cCg>cTg	p.P2214L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2214	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.P2214Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCCAGCCCCGGTGCCTCTC	0.612000													3	75					0	0	0.115264	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627000													8	114					0	0	0.335167	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296318	39296318	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr17:39296318C>T	ENST00000345847.4	-	1	421	c.422G>A	c.(421-423)cGt>cAt	p.R141H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	137	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R141H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcagGT	0.672000													3	33					0	0	0.150653	0	0
MYH9	4627	broad.mit.edu	37	22	36681972	36681972	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr22:36681972G>A	ENST00000216181.5	-	36	5319	c.5089C>T	c.(5089-5091)Cgc>Tgc	p.R1697C	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1697					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCCTGGCGCTTGGCACGC	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	52					0	0	0.307466	0	0
ALPP	250	broad.mit.edu	37	2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667000													10	22					0	0	0.435327	0	0
MRC2	9902	broad.mit.edu	37	17	60741987	60741987	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr17:60741987C>T	ENST00000303375.5	+	2	599	c.197C>T	c.(196-198)cCg>cTg	p.P66L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	66	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGAGTCACCCCGGCTTGCAAT	0.632000													4	70					0	0	0.184627	0	0
PRKDC	5591	broad.mit.edu	37	8	48739269	48739269	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:48739269G>T	ENST00000314191.2	-	64	8784	c.8728C>A	c.(8728-8730)Cgt>Agt	p.R2910S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2911	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCTTCCCACGGACTCGCTTG	0.627000								Non-homologous end-joining					6	26					0.0381472	0.0433831	0.278610	1	0
MACF1	23499	broad.mit.edu	37	1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:39888543G>C	ENST00000564288.1	+	60	16897	c.16120G>C	c.(16120-16122)Gtg>Ctg	p.V5374L	MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458000													4	29					0	0	0.184627	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557000													3	65					0	0	0.217242	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657000										HNSCC(69;0.2)			4	22					0	0	0.184627	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388000													4	107					0	0	0.217242	0	0
CPA5	93979	broad.mit.edu	37	7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527000													11	101					0	0	0.387290	0	0
KAT6B	23522	broad.mit.edu	37	10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GCTTTCTCATATCTATACCAC	0.512000													9	59					0	0	0.387290	0	0
NLRP10	338322	broad.mit.edu	37	11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	rs74451065		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547000													10	26					1.76689e-08	2.18042e-08	0.335167	1	0
SIDT1	54847	broad.mit.edu	37	3	113325954	113325954	+	Missense_Mutation	SNP	G	G	A	rs146353910		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:113325954G>A	ENST00000264852.4	+	15	2197	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	491						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCCCTTGGGCGTCCTGAGGTA	0.433000													3	58					0	0	0.150653	0	0
FAM174B	400451	broad.mit.edu	37	15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral to membrane				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478000													8	26					0	0	0.307466	0	0
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423000													19	105					0	0	0.592651	0	0
ADAD2	161931	broad.mit.edu	37	16	84229221	84229221	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:84229221G>A	ENST00000268624.3	+	7	1309	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	324	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCCCGGACCCCCATT	0.687000													4	29					0	0	0.150653	0	0
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617000			T	EWSR1	Ewing sarcoma								3	9					0	0	0.115264	0	0
CABP1	9478	broad.mit.edu	37	12	121094004	121094004	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:121094004G>A	ENST00000453000.1	+	1	903	c.391G>A	c.(391-393)Gca>Aca	p.A131T	CABP1_ENST00000316803.3_Intron|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.A52T			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGAACTGCGCAGTCATGCA	0.647000													3	39					0	0	0.115264	0	0
OBSCN	84033	broad.mit.edu	37	1	228487672	228487672	+	Missense_Mutation	SNP	G	G	A	rs55939441		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:228487672G>A	ENST00000570156.2	+	51	13638	c.13564G>A	c.(13564-13566)Gcc>Acc	p.A4522T	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T|OBSCN_ENST00000602685.1_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3565					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAAAGGCGGCCCCCGTGGA	0.557000													3	67					0	0	0.115264	0	0
NLGN1	22871	broad.mit.edu	37	3	173322456	173322456	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:173322456G>A	ENST00000457714.1	+	3	497	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R23L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGTACACCGGGGATTGGGT	0.507000													27	84					0	0	0.693898	0	0
RAG1	5896	broad.mit.edu	37	11	36596041	36596041	+	Missense_Mutation	SNP	G	G	A	rs104894291		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:36596041G>A	ENST00000299440.5	+	2	1299	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS).|R -> H (in OS).|R -> L (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R396H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCCGGCCCCGCCAACATCTT	0.478000									Familial Hemophagocytic Lymphohistiocytosis				3	66					0	0	0.115264	0	0
ZBBX	79740	broad.mit.edu	37	3	167000276	167000276	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTCTGTGATTTCTGACCTA	0.353000													3	70					0	0	0.150653	0	0
CD38	952	broad.mit.edu	37	4	15835906	15835906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:15835906G>A	ENST00000226279.3	+	4	703	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCAGTATTCTGGAAAACGGTT	0.398000													26	54					0	0	0.760397	0	0
DTX1	1840	broad.mit.edu	37	12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	509					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652000													21	117					0	0	0.706142	0	0
CDH5	1003	broad.mit.edu	37	16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGGGGAAAGAGTATTTTGC	0.527000													23	122					0	0	0.681144	0	0
ARIH2	10425	broad.mit.edu	37	3	49004609	49004609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:49004609C>T	ENST00000356401.4	+	6	778	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	147					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCAGTTTGTGCGAAAGGAAAA	0.572000													14	145					0	0	0.500413	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655514	38655514	+	Silent	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:38655514G>A	ENST00000222345.6	+	15	4685	c.4176G>A	c.(4174-4176)gcG>gcA	p.A1392A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1392					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGGACTGGCGGGGGGCAGCC	0.657000													10	26					0	0	0.411799	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123127403	123127403	+	Silent	SNP	G	G	A	rs41292582	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr6:123127403G>A	ENST00000368440.4	+	7	1122	c.945G>A	c.(943-945)gtG>gtA	p.V315V	SMPDL3A_ENST00000539041.1_Silent_p.V184V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	315					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CTTTGTTTGTGGCTCCTGCTG	0.323000													7	32					0	0	0.307466	0	0
IPO5	3843	broad.mit.edu	37	13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr13:98655152A>G	ENST00000261574.5	+	16	1592	c.1412A>G	c.(1411-1413)cAa>cGa	p.Q471R	IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R|IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	453					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453000													6	20					0	0	0.217242	0	0
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	Missense_Mutation	SNP	C	C	G	rs28435564		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:11420458C>G	ENST00000279573.7	-	3	860	c.725G>C	c.(724-726)cGt>cCt	p.R242P	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612000													3	25					0	0	0.115264	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874185	88874185	+	Splice_Site	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488000													4	17					0	0	0.150653	0	0
SYCP1	6847	broad.mit.edu	37	1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318000													12	58					1.05317e-09	1.28212e-09	0.457914	1	0
PLEKHA4	0	broad.mit.edu	37	19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH.					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)		GCTCCCGGCCCATCTGGTCTA	0.612000													7	78					0.0477658	0.0534976	0.307466	1	0
SCYL2	55681	broad.mit.edu	37	12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343000													3	41					0	0	0.115264	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	57					0	0	0.248553	0	0
VRTN	55237	broad.mit.edu	37	14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567000													24	74					0	0	0.717897	0	0
OPA1	4976	broad.mit.edu	37	3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:193361334G>A	ENST00000361510.2	+	15	1629	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308000													11	46					0	0	0.387290	0	0
TEP1	7011	broad.mit.edu	37	14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542000													17	88					0	0	0.592651	0	0
COL25A1	84570	broad.mit.edu	37	4	109740459	109740459	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr4:109740459T>C	ENST00000399132.1	-	36	2402	c.1872A>G	c.(1870-1872)aaA>aaG	p.K624K		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	624	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453000													3	50					0	0	0.150653	0	0
AKR7L	246181	broad.mit.edu	37	1	19597014	19597014	+	RNA	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:19597014G>T	ENST00000420396.2	-	0	437				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622000													3	74					0.00116845	0.00136319	0.217242	1	0
AKR7L	246181	broad.mit.edu	37	1	19597040	19597040	+	RNA	SNP	C	C	T	rs114623957	by1000genomes	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:19597040C>T	ENST00000420396.2	-	0	411				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617000													4	56					0	0	0.184627	0	0
YTHDC1	91746	broad.mit.edu	37	4	69198540	69198540	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328000													4	46					0	0	0.217242	0	0
CPA5	93979	broad.mit.edu	37	7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527000													11	101					0	0	0.387290	0	0
SRRM2	23524	broad.mit.edu	37	16	2817170	2817170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:2817170C>T	ENST00000301740.8	+	11	7190	c.6641C>T	c.(6640-6642)cCg>cTg	p.P2214L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2214	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.P2214Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCCAGCCCCGGTGCCTCTC	0.612000													3	75					0	0	0.115264	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627000													8	114					0	0	0.335167	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296318	39296318	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr17:39296318C>T	ENST00000345847.4	-	1	421	c.422G>A	c.(421-423)cGt>cAt	p.R141H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	137	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R141H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcagGT	0.672000													3	33					0	0	0.150653	0	0
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr10:55587212C>G	ENST00000373965.2	-	33	4723	c.4329G>C	c.(4327-4329)ccG>ccC	p.P1443P	PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000409834.1_Silent_p.P1047P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggcggcggcgggggcgCTG	0.582000										HNSCC(58;0.16)			4	68					0	0	0.184627	0	0
MYH9	4627	broad.mit.edu	37	22	36681972	36681972	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr22:36681972G>A	ENST00000216181.5	-	36	5319	c.5089C>T	c.(5089-5091)Cgc>Tgc	p.R1697C	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1697					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCCTGGCGCTTGGCACGC	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	52					0	0	0.307466	0	0
ALPP	250	broad.mit.edu	37	2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667000													10	22					0	0	0.435327	0	0
MRC2	9902	broad.mit.edu	37	17	60741987	60741987	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr17:60741987C>T	ENST00000303375.5	+	2	599	c.197C>T	c.(196-198)cCg>cTg	p.P66L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	66	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGAGTCACCCCGGCTTGCAAT	0.632000													4	70					0	0	0.184627	0	0
PRKDC	5591	broad.mit.edu	37	8	48739269	48739269	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr8:48739269G>T	ENST00000314191.2	-	64	8784	c.8728C>A	c.(8728-8730)Cgt>Agt	p.R2910S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2911	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCTTCCCACGGACTCGCTTG	0.627000								Non-homologous end-joining					6	26					0.0381472	0.0435968	0.278610	1	0
MACF1	23499	broad.mit.edu	37	1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:39888543G>C	ENST00000564288.1	+	60	16897	c.16120G>C	c.(16120-16122)Gtg>Ctg	p.V5374L	MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458000													4	29					0	0	0.184627	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	SCGB1A1_ENST00000534397.1_5'UTR|CTD-2531D15.4_ENST00000528983.1_RNA	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557000													3	65					0	0	0.217242	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657000										HNSCC(69;0.2)			4	22					0	0	0.184627	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388000													4	107					0	0	0.217242	0	0
NLRP10	338322	broad.mit.edu	37	11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	rs74451065		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547000													10	26					1.76689e-08	2.10523e-08	0.335167	1	0
KAT6B	23522	broad.mit.edu	37	10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GCTTTCTCATATCTATACCAC	0.512000													9	59					0	0	0.387290	0	0
SIDT1	54847	broad.mit.edu	37	3	113325954	113325954	+	Missense_Mutation	SNP	G	G	A	rs146353910		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:113325954G>A	ENST00000264852.4	+	15	2197	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	491						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCCCTTGGGCGTCCTGAGGTA	0.433000													3	58					0	0	0.150653	0	0
FAM174B	400451	broad.mit.edu	37	15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral to membrane				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478000													8	26					0	0	0.307466	0	0
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423000													19	105					0	0	0.592651	0	0
ADAD2	161931	broad.mit.edu	37	16	84229221	84229221	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:84229221G>A	ENST00000268624.3	+	7	1309	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	324	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCCCGGACCCCCATT	0.687000													4	29					0	0	0.150653	0	0
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617000			T	EWSR1	Ewing sarcoma								3	9					0	0	0.115264	0	0
CABP1	9478	broad.mit.edu	37	12	121094004	121094004	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:121094004G>A	ENST00000453000.1	+	1	903	c.391G>A	c.(391-393)Gca>Aca	p.A131T	CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGAACTGCGCAGTCATGCA	0.647000													3	39					0	0	0.115264	0	0
ZFHX3	463	broad.mit.edu	37	16	72830348	72830348	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:72830348G>A	ENST00000268489.5	-	9	6905	c.6233C>T	c.(6232-6234)cCg>cTg	p.P2078L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2078					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCTGGGCCGGTGCAATTGT	0.672000													3	93					0	0	0.115264	0	0
OBSCN	84033	broad.mit.edu	37	1	228487672	228487672	+	Missense_Mutation	SNP	G	G	A	rs55939441		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:228487672G>A	ENST00000570156.2	+	51	13638	c.13564G>A	c.(13564-13566)Gcc>Acc	p.A4522T	OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3565					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAAAGGCGGCCCCCGTGGA	0.557000													3	67					0	0	0.115264	0	0
NLGN1	22871	broad.mit.edu	37	3	173322456	173322456	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:173322456G>A	ENST00000457714.1	+	3	497	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R23L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGTACACCGGGGATTGGGT	0.507000													27	84					0	0	0.693898	0	0
RAG1	5896	broad.mit.edu	37	11	36596041	36596041	+	Missense_Mutation	SNP	G	G	A	rs104894291		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:36596041G>A	ENST00000299440.5	+	2	1299	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS).|R -> H (in OS).|R -> L (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R396H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCCGGCCCCGCCAACATCTT	0.478000									Familial Hemophagocytic Lymphohistiocytosis				3	66					0	0	0.115264	0	0
ZBBX	79740	broad.mit.edu	37	3	167000276	167000276	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTCTGTGATTTCTGACCTA	0.353000													3	70					0	0	0.150653	0	0
CD38	952	broad.mit.edu	37	4	15835906	15835906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr4:15835906G>A	ENST00000226279.3	+	4	703	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCAGTATTCTGGAAAACGGTT	0.398000													26	54					0	0	0.760397	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634													23	131	---	---	---	---					
GRK6	2870	broad.mit.edu	37	5	176863219	176863221	+	In_Frame_Del	DEL	GAA	GAA	-	rs76969408		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr5:176863219_176863221delGAA	ENST00000355472.5	+	12	1371_1373	c.1203_1205delGAA	c.(1201-1206)gtgaag>gtg	p.K402del	GRK6_ENST00000393576.3_In_Frame_Del_p.K368del|GRK6_ENST00000507633.1_In_Frame_Del_p.K402del|GRK6_ENST00000528793.1_In_Frame_Del_p.K402del|GRK6_ENST00000355958.5_In_Frame_Del_p.K402del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	402	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.K402delK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGCTGGTGAAGGAGGTCCCC	0.645													9	134	---	---	---	---					
C6orf10	10665	broad.mit.edu	37	6	32260980	32260982	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:32260980_32260982delCTT	ENST00000375015.4	-	26	1665_1667	c.1465_1467delAAG	c.(1465-1467)aagdel	p.K489del	C6orf10_ENST00000533191.1_In_Frame_Del_p.K488del|C6orf10_ENST00000375007.4_In_Frame_Del_p.K488del|C6orf10_ENST00000527965.1_In_Frame_Del_p.K474del|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000447241.2_In_Frame_Del_p.K490del			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	490	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CAAAACTCTCCTTCTTTTCTTGG	0.379													23	100	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)aagfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													8	241	---	---	---	---					
RP11-867G2.8	0	broad.mit.edu	37	11	94373825	94373827	+	RNA	DEL	ACC	ACC	-	rs112219584		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:94373825_94373827delACC	ENST00000536540.1	-	0	437				RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.5_ENST00000438416.2_lincRNA																							tgcttggaagaccaccaccacca	0.557													3	6	---	---	---	---					
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312													2	4	---	---	---	---					
FOXF1	2294	broad.mit.edu	37	16	86544211	86544213	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:86544211_86544213delCGG	ENST00000262426.4	+	1	79_81	c.36_38delCGG	c.(34-39)cacggc>cac	p.G23del		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	23					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AGCCACCGCAcggcggcggcggc	0.803													2	4	---	---	---	---					
C19orf33	64073	broad.mit.edu	37	19	38795581	38795583	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38795581_38795583delAAG	ENST00000301246.5	+	4	399_401	c.298_300delAAG	c.(298-300)aagdel	p.K102del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	102						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ggagaagggcaagaagaaggagG	0.596													9	5	---	---	---	---					
CLCNKB	1188	broad.mit.edu	37	1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634													23	131	---	---	---	---					
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312													2	4	---	---	---	---					
CDH5	1003	broad.mit.edu	37	16	66422312	66422312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:66422312delG	ENST00000341529.3	+	4	733	c.585delG	c.(583-585)aagfs	p.K195fs	CDH5_ENST00000563425.2_Frame_Shift_Del_p.K195fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AAATCCTGAAGGGGAAAGAGT	0.517													26	159	---	---	---	---					
RP11-345M22.1	0	broad.mit.edu	37	16	79756932	79756934	+	RNA	DEL	TGG	TGG	-	rs67854673		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:79756932_79756934delTGG	ENST00000561510.1	+	0	361																											atgatggtgatggtggtggtggt	0.567													3	5	---	---	---	---					
FOXF1	2294	broad.mit.edu	37	16	86544211	86544213	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:86544211_86544213delCGG	ENST00000262426.4	+	1	79_81	c.36_38delCGG	c.(34-39)cacggc>cac	p.G23del		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	23					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AGCCACCGCAcggcggcggcggc	0.803													2	4	---	---	---	---					
C19orf33	64073	broad.mit.edu	37	19	38795581	38795583	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:38795581_38795583delAAG	ENST00000301246.5	+	4	399_401	c.298_300delAAG	c.(298-300)aagdel	p.K102del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	102						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ggagaagggcaagaagaaggagG	0.596													9	5	---	---	---	---					
