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
EXOC6B	23233	broad.mit.edu	37	2	72945329	72945329	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:72945329C>T	ENST00000272427.6	-	6	702	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R191Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	191					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TATTTCTTCTCGAAGCTTGGG	0.443000													17	85					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847309	60847309	+	Silent	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:60847309G>A	ENST00000313733.3	+	5	589	c.387G>A	c.(385-387)agG>agA	p.R129R	OSBPL2_ENST00000358053.2_Silent_p.R117R|OSBPL2_ENST00000439951.2_Silent_p.R37R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	129					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CCCTGGAGAGGATGCAGGTGG	0.607000													35	633					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68279444	68279444	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:68279444C>G	ENST00000219345.5	+	1	198	c.115C>G	c.(115-117)Cca>Gca	p.P39A	PLA2G15_ENST00000444212.2_Missense_Mutation_p.P39A|PLA2G15_ENST00000413021.2_Missense_Mutation_p.P39A|PLA2G15_ENST00000566188.1_Missense_Mutation_p.P39A	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	39					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						ACGTCACCCCCCAGTGGTGCT	0.711000													3	34					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702378	179702378	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:179702378C>T	ENST00000420890.2	-	23	3685	c.3568G>A	c.(3568-3570)Ggc>Agc	p.G1190S	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G615S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	615							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCTGGACGCCACCCTCCTTG	0.557000													64	105					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66459818	66459818	+	RNA	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:66459818C>T	ENST00000424345.1	+	0	78																											gatttgtccccagtgccttat	0.353000													3	12					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506338	44506338	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:44506338G>A	ENST00000255152.2	+	2	1350	c.1141G>A	c.(1141-1143)Gtt>Att	p.V381I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V375I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	381							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTACATGCATGTTAGGAAGGG	0.532000													52	649					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66457546	66457546	+	RNA	SNP	T	T	C			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:66457546T>C	ENST00000424345.1	+	0	67																											TTCTGTCTCCTTGATGCGGTG	0.562000													5	16					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871241	62871241	+	Silent	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62871241C>T	ENST00000536311.1	+	22	3667	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I	MYT1_ENST00000328439.1_Silent_p.I1074I			Q01538	MYT1_HUMAN	myelin transcription factor 1	1074					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCGCCAATATCCGCCTTCCGC	0.622000													181	1151					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864276	144864276	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:144864276C>T	ENST00000369359.4	-	39	6265	c.6227G>A	c.(6226-6228)cGa>cAa	p.R2076Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1834Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1940Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1940Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R2025Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1940					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1940Q(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGTGGGATCGAGAGGACAG	0.527000			T	PDGFRB	MPD								26	292					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31628791	31628791	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:31628791C>G	ENST00000379416.3	-	2	130	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	28	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCAGGTAGGCCAAAAGGGTT	0.403000													28	82					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62867928	62867928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62867928C>T	ENST00000536311.1	+	20	3363	c.2999C>T	c.(2998-3000)gCa>gTa	p.A1000V	MYT1_ENST00000328439.1_Missense_Mutation_p.A973V			Q01538	MYT1_HUMAN	myelin transcription factor 1	973					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTCCCAGAGCAACCTTTGCT	0.552000													52	348					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23876398	23876398	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr14:23876398G>A	ENST00000405093.3	-	3	105	c.35C>T	c.(34-36)gCg>gTg	p.A12V	MYH6_ENST00000356287.3_Missense_Mutation_p.A12V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	12	Myosin head-like.			AA -> T (in Ref. 8; CAA29120).	adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTACTGGGCCGCTGCCCCAAA	0.607000													5	227					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.R47P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657000													4	152					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187088	62187088	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62187088G>T	ENST00000370098.3	+	2	164	c.72G>T	c.(70-72)caG>caT	p.Q24H	C20orf195_ENST00000370097.1_Missense_Mutation_p.Q24H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	24										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCCTGGACCAGGAGGAGGCAG	0.637000													24	348					4.4004e-07	4.78725e-07	1	1	0
ZAN	7455	broad.mit.edu	37	7	100369619	100369619	+	RNA	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:100369619G>A	ENST00000542585.1	+	0	5549				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGGCCCCTGCCTGGCGGAA	0.627000													7	34					0	0	1	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9967	9967	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chrM:9967T>C	ENST00000362079.2	+	1	761	c.761T>C	c.(760-762)gTc>gCc	p.254_254insA						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						ATTTCTGTATGTCTCCATCTA	0.358000													11	109					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542000													6	320					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23163401	23163401	+	Translation_Start_Site	SNP	G	G	A	rs150640353		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:23163401G>A	ENST00000409689.1	+	0	506				KLHL7_ENST00000545443.1_Silent_p.T20T|KLHL7_ENST00000322275.5_Silent_p.T42T|KLHL7_ENST00000339077.4_Silent_p.T42T|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000545771.1_Silent_p.T20T|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000322231.7_Silent_p.T20T|KLHL7_ENST00000410047.1_Silent_p.T20T|KLHL7_ENST00000542558.1_Intron	NM_018846.4	NP_061334.4	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane		p.T20T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTAGAAAACGTTGTGTGACG	0.373000													15	53					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378230	16378230	+	Silent	SNP	G	G	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:16378230G>T	ENST00000375679.4	+	14	1434	c.1323G>T	c.(1321-1323)ggG>ggT	p.G441G	CLCNKB_ENST00000375667.3_Silent_p.G272G	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)		GCCTCTTTGGGGAGACTCTCT	0.632000													81	112					1.81764e-44	2.0924e-44	1	1	0
REEP1	65055	broad.mit.edu	37	2	86509339	86509339	+	Missense_Mutation	SNP	G	G	A	rs121918262		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:86509339G>A	ENST00000165698.5	-	2	202	c.59C>T	c.(58-60)gCg>gTg	p.A20V	REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.A20V|REEP1_ENST00000538924.1_Missense_Mutation_p.A27V|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Intron	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	20			A -> E (in SPG31).		cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGAATAATACGCAGGGTAAAG	0.388000													51	201					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794987	55794987	+	Silent	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:55794987G>A	ENST00000379665.2	+	1	774	c.675G>A	c.(673-675)aaG>aaA	p.K225K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CAATTCTGAAGATTCCCTCTG	0.398000													37	221					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187101	62187101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62187101G>A	ENST00000370098.3	+	2	177	c.85G>A	c.(85-87)Gac>Aac	p.D29N	C20orf195_ENST00000370097.1_Missense_Mutation_p.D29N	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	29										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAGGCAGATGACCAGCAGCT	0.627000													21	349					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62196497	62196497	+	Silent	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62196497G>A	ENST00000467148.1	-	8	3747	c.3678C>T	c.(3676-3678)atC>atT	p.I1226I	HELZ2_ENST00000427522.2_Silent_p.I657I	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGGCCACGAAGATCTTGGTCA	0.652000													5	124					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397671	10397671	+	Splice_Site	SNP	C	C	T	rs145273788	byFrequency	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:10397671C>T	ENST00000226207.5	-	39	5761	c.5667_splice	c.e39+1	p.A1889_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1889						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A1889A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGAACTCACCGCTTCTTCAG	0.443000													46	94					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53092524	53092524	+	Silent	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:53092524C>T	ENST00000262593.5	+	1	389	c.39C>T	c.(37-39)taC>taT	p.Y13Y	DOK5_ENST00000491469.1_3'UTR|DOK5_ENST00000395939.1_Intron	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	13	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			AGCAAGGGTACGTGAGGATCC	0.587000													100	53					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			356	89					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91422045	91422045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr15:91422045C>T	ENST00000268171.3	+	9	1171	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	298					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAACGGGGGCCGGGAACATGA	0.622000													10	55					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66457513	66457513	+	RNA	SNP	A	A	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:66457513A>G	ENST00000424345.1	+	0	67																											GCGTTTCATAAGGTCCTTCCT	0.557000													5	13					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46670620	46670620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:46670620G>A	ENST00000239151.5	-	1	703	c.425C>T	c.(424-426)cCt>cTt	p.P142L	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	142						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CGCTTCCTCAGGCTCCGAGGA	0.687000													40	57					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871771	62871771	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62871771C>G	ENST00000536311.1	+	23	3781	c.3417C>G	c.(3415-3417)atC>atG	p.I1139M	MYT1_ENST00000328439.1_Missense_Mutation_p.I1112M			Q01538	MYT1_HUMAN	myelin transcription factor 1	1112					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGAGAGCATCAAGCAGGCTG	0.597000													64	312					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511203	61511203	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr11:61511203A>T	ENST00000257215.5	+	20	2487	c.2371A>T	c.(2371-2373)Agc>Tgc	p.S791C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	791					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCCTGTACAGCTTCGACTC	0.672000													40	74					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725478	38725478	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:38725478C>A	ENST00000409072.3	-	2	1062	c.128G>T	c.(127-129)cGc>cTc	p.R43L						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GTGAACCTTGCGCAGGGGATT	0.522000													60	102					9.5628e-27	1.08818e-26	1	1	0
OSBPL2	9885	broad.mit.edu	37	20	60847240	60847240	+	Silent	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:60847240G>A	ENST00000313733.3	+	5	520	c.318G>A	c.(316-318)cgG>cgA	p.R106R	OSBPL2_ENST00000358053.2_Silent_p.R94R|OSBPL2_ENST00000439951.2_Silent_p.R14R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	106					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TCTTGCAGCGGATCACGGAGT	0.607000													66	702					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187019	62187019	+	Translation_Start_Site	SNP	G	G	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62187019G>T	ENST00000370098.3	+	2	95	c.3G>T	c.(1-3)atG>atT	p.M1I	C20orf195_ENST00000370097.1_Start_Codon_SNP_p.M1I	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	1										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCCGGATAATGAGCACCCATG	0.647000													10	213					0.0581538	0.0587472	1	1	0
OSBPL2	9885	broad.mit.edu	37	20	60847256	60847256	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:60847256G>A	ENST00000313733.3	+	5	536	c.334G>A	c.(334-336)Gag>Aag	p.E112K	OSBPL2_ENST00000358053.2_Missense_Mutation_p.E100K|OSBPL2_ENST00000439951.2_Missense_Mutation_p.E20K	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	112					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAGTACATGGAGCACGTGTA	0.587000													61	730					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	68					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254390	98254390	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:98254390C>T	ENST00000265634.3	+	3	965	c.800C>T	c.(799-801)cCc>cTc	p.P267L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	267	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGGCACCCCCTTCTCCTAT	0.607000													40	247					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62868740	62868740	+	Silent	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62868740C>T	ENST00000536311.1	+	21	3535	c.3171C>T	c.(3169-3171)tcC>tcT	p.S1057S	MYT1_ENST00000328439.1_Silent_p.S1030S			Q01538	MYT1_HUMAN	myelin transcription factor 1	1030					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCTGCAGTCCCAGGTAGGTG	0.587000													13	98					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162936	42162936	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:42162936A>G	ENST00000444063.1	+	12	1474	c.1342A>G	c.(1342-1344)Agc>Ggc	p.S448G	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.S448G|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.S448G|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S516G|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S516G			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	448					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ACCCCCTCACAGCTTCCTGGT	0.622000													18	47					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871173	62871173	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62871173C>A	ENST00000536311.1	+	22	3599	c.3235C>A	c.(3235-3237)Cag>Aag	p.Q1079K	MYT1_ENST00000328439.1_Missense_Mutation_p.Q1052K			Q01538	MYT1_HUMAN	myelin transcription factor 1	1052					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATTGAGGAGCAGAATGAAGC	0.577000													157	963					1.75003e-54	2.03827e-54	1	1	0
OSBPL2	9885	broad.mit.edu	37	20	60847303	60847303	+	Silent	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:60847303G>A	ENST00000313733.3	+	5	583	c.381G>A	c.(379-381)ctG>ctA	p.L127L	OSBPL2_ENST00000358053.2_Silent_p.L115L|OSBPL2_ENST00000439951.2_Silent_p.L35L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	127					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CCCAGCCCCTGGAGAGGATGC	0.607000													39	647					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140386991	140386991	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:140386991C>G	ENST00000072869.4	+	5	1685	c.1507C>G	c.(1507-1509)Cct>Gct	p.P503A	ADCK2_ENST00000476491.1_Missense_Mutation_p.P503A	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	503	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCTGCAGGCCCCTGACCTGAG	0.572000													15	18					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187046	62187046	+	Silent	SNP	G	G	C			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62187046G>C	ENST00000370098.3	+	2	122	c.30G>C	c.(28-30)ctG>ctC	p.L10L	C20orf195_ENST00000370097.1_Silent_p.L10L	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	10										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCCTGGGCCTGGACAAGATGA	0.647000													16	251					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62853291	62853291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62853291C>T	ENST00000536311.1	+	14	2732	c.2368C>T	c.(2368-2370)Cag>Tag	p.Q790*	MYT1_ENST00000360149.4_Nonsense_Mutation_p.Q465*|MYT1_ENST00000328439.1_Nonsense_Mutation_p.Q763*			Q01538	MYT1_HUMAN	myelin transcription factor 1	763					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGATGACCAGGAAGTGTC	0.512000													57	316					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238434	100238434	+	Silent	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:100238434C>T	ENST00000462107.1	-	4	635	c.348G>A	c.(346-348)ttG>ttA	p.L116L	TFR2_ENST00000223051.3_Silent_p.L116L|TFR2_ENST00000431692.1_Silent_p.L116L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	116					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CACTGACCACCAACACAGAGT	0.602000													37	86					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	78					0.000602214	0.000641067	1	1	0
UBP1	7342	broad.mit.edu	37	3	33481323	33481323	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr3:33481323C>G	ENST00000283629.3	-	1	547	c.18G>C	c.(16-18)aaG>aaC	p.K6N	UBP1_ENST00000447368.2_Missense_Mutation_p.K6N|UBP1_ENST00000283628.5_Missense_Mutation_p.K6N	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	6					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CCTCGTCCATCTTGAGCACCC	0.706000													27	99					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940904	22940904	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr19:22940904T>C	ENST00000397104.3	-	5	1533	c.1534A>G	c.(1534-1536)Aac>Gac	p.N512D	ZNF99_ENST00000596209.1_Missense_Mutation_p.N603D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAGAAGTGGTTAAAAGCTTTG	0.388000													24	69					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70209136	70209136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr18:70209136C>T	ENST00000269503.4	-	3	1033	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.R87H|CBLN2_ENST00000584764.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	87						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCTGCCGGAGCGCACGGAGAT	0.672000													7	37					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089288	86089288	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr14:86089288A>T	ENST00000330753.4	+	2	2197	c.1430A>T	c.(1429-1431)cAc>cTc	p.H477L	FLRT2_ENST00000554746.1_Missense_Mutation_p.H477L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	477	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GAGAAGCAACACCTGAGCCTG	0.502000													34	73					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60937519	60937519	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:60937519C>G	ENST00000252999.3	-	2	453	c.387G>C	c.(385-387)caG>caC	p.Q129H	LAMA5_ENST00000370692.3_Missense_Mutation_p.Q129H|LAMA5_ENST00000370677.3_Missense_Mutation_p.Q129H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	129	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGTGGACTCTGCCACCAGC	0.642000													45	345					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60768483	60768483	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:60768483C>T	ENST00000370823.3	+	2	25	c.7C>T	c.(7-9)Cct>Tct	p.P3S	MTG2_ENST00000436421.2_Missense_Mutation_p.P3S|MTG2_ENST00000536470.1_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		GGCCATGGCACCTGCAAGGTG	0.542000													29	540					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15216	15216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chrM:15216G>A	ENST00000361789.2	+	1	470	c.470G>A	c.(469-471)gGg>gAg	p.157_157insE						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CCCATACATTGGGACAGACCT	0.453000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	14	141					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1																						CCCCCACCCCGTCATGTACAG	0.413000													6	63					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589864	11589864	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:11589864G>A	ENST00000294484.6	+	15	3088	c.2950G>A	c.(2950-2952)Gcc>Acc	p.A984T	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A984T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	984					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGTCTCTCAGCCACCTTCGG	0.642000													15	51					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237199	42237199	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr6:42237199C>T	ENST00000541110.1	-	5	698	c.130G>A	c.(130-132)Gga>Aga	p.G44R	TRERF1_ENST00000372922.4_Missense_Mutation_p.G44R|TRERF1_ENST00000340840.2_Missense_Mutation_p.G44R|TRERF1_ENST00000354325.2_Missense_Mutation_p.G44R|TRERF1_ENST00000372917.4_Missense_Mutation_p.G44R			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	44					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCATCCATTCCGCCCCCTGTA	0.567000													51	82					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541242	2541242	+	Silent	SNP	C	C	T	rs150441473	byFrequency	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:2541242C>T	ENST00000288709.6	-	5	534	c.294G>A	c.(292-294)ccG>ccA	p.P98P	MMEL1_ENST00000502556.1_Silent_p.P107P|MMEL1_ENST00000378412.3_Silent_p.P107P	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	107					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTTCCGTGGTCGGGTCCATGT	0.597000													50	72					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94476824	94476824	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:94476824G>A	ENST00000370225.3	-	39	5664	c.5578C>T	c.(5578-5580)Cgg>Tgg	p.R1860W	ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.R130W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1860					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACCAAACCGGGCATAGACA	0.642000													27	88					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62867971	62867971	+	Silent	SNP	C	C	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:62867971C>A	ENST00000536311.1	+	20	3406	c.3042C>A	c.(3040-3042)gtC>gtA	p.V1014V	MYT1_ENST00000328439.1_Silent_p.V987V			Q01538	MYT1_HUMAN	myelin transcription factor 1	987					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGATGAGGTCCTCAGTCCAA	0.532000													53	359					1.11015e-26	1.24892e-26	1	1	0
SCP2	6342	broad.mit.edu	37	1	53416510	53416510	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:53416510G>A	ENST00000371514.3	+	4	451	c.283G>A	c.(283-285)Gct>Act	p.A95T	SCP2_ENST00000407246.2_Missense_Mutation_p.A71T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000371513.5_Intron|SCP2_ENST00000528311.1_Missense_Mutation_p.A14T	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	95					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAATAACTGTGCTACTGGTTC	0.408000													43	135					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141557595	141557595	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:141557595C>G	ENST00000220592.5	-	13	1832	c.1720G>C	c.(1720-1722)Gtg>Ctg	p.V574L	AGO2_ENST00000519980.1_Missense_Mutation_p.V574L	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		ATGTTGTTCACGCCTCCCAGC	0.647000													25	92					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839049	44839049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:44839049G>A	ENST00000372262.3	-	6	1583	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.R395W	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAGGGCGGCCGGAACTCGGGG	0.746000													9	181					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4824704	4824704	+	Missense_Mutation	SNP	C	C	A	rs143882013		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr11:4824704C>A	ENST00000380382.1	-	1	1143	c.1144G>T	c.(1144-1146)Ggg>Tgg	p.G382W	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.G303W|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCTGTCCCCGATCTGTTTG	0.468000													31	61					1.7881e-09	1.98901e-09	1	1	0
CCDC102A	92922	broad.mit.edu	37	16	57559858	57559858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:57559858C>T	ENST00000258214.2	-	3	1013	c.767G>A	c.(766-768)cGg>cAg	p.R256Q		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	256										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CAGCCGTAGCCGCAGGGCGGT	0.716000													10	51					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611721	6611721	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr4:6611721G>A	ENST00000285599.3	+	13	2239	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.G684S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	735					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGACAACAACGGCTACCAGAT	0.592000													17	92					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													4	75					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39666977	39666977	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:39666977T>A	ENST00000265708.4	-	7	625	c.522A>T	c.(520-522)caA>caT	p.Q174H	ADAM2_ENST00000347580.4_Intron|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.Q174H	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	174					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTGCAAAATCTTGCTGTGGCT	0.264000													7	38					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365235	30365235	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:30365235T>C	ENST00000305596.3	-	4	537	c.362A>G	c.(361-363)gAc>gGc	p.D121G	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D121G	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	121					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GTCAATGTTGTCCAGCCAGCT	0.607000													13	69					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222727	5222727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr19:5222727G>A	ENST00000372412.4	-	18	3312	c.3079C>T	c.(3079-3081)Cgc>Tgc	p.R1027C	PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1004C|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1026C|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1026C|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1022C|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1004C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1026	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCCGGTAGCGGACGGGGGGG	0.746000													13	37					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127251181	127251181	+	Silent	SNP	G	G	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:127251181G>T	ENST00000341640.2	-	9	1174	c.969C>A	c.(967-969)gcC>gcA	p.A323A	PAX4_ENST00000463946.1_Silent_p.A321A|PAX4_ENST00000378740.2_Intron|PAX4_ENST00000338516.3_3'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	335	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CACTAAGACTGGCCAGGTGAC	0.572000													3	22					0.004672	0.004818	1	1	0
LINC01128	643837	broad.mit.edu	37	1	770788	770788	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:770788delT	ENST00000445118.2	+	0	270					NR_047519.1|NR_047520.1|NR_047521.1|NR_047522.1|NR_047523.1|NR_047524.1|NR_047525.1																						TAATGGAGTATTTTAATCACT	0.527													2	4	---	---	---	---					
CROCCP3	114819	broad.mit.edu	37	1	16818078	16818078	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:16818078delA	ENST00000263511.4	-	0	721					NR_023386.1																						CCAGAGTCCTAAGTATTTGGG	0.537													2	4	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17019432	17019433	+	RNA	INS	-	-	GC	rs138548890	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:17019432_17019433insGC	ENST00000492551.1	-	0	1938					NR_026567.1																						GTACACGCCGTGCGCCAGGCCC	0.713													3	4	---	---	---	---					
RP11-435B5.7	0	broad.mit.edu	37	1	143532978	143532979	+	RNA	INS	-	-	G	rs142253815		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr1:143532978_143532979insG	ENST00000418607.2	-	0	204																											ACTTTTTTTTTGTCTTCATACT	0.322													3	6	---	---	---	---					
AC010880.1	0	broad.mit.edu	37	2	16555186	16555186	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:16555186delT	ENST00000427950.1	+	0	83																											cccctctccctttttttctcc	0.428													2	4	---	---	---	---					
LINC01122	400955	broad.mit.edu	37	2	58776939	58776940	+	RNA	INS	-	-	A	rs113854469		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:58776939_58776940insA	ENST00000452840.1	+	0	195																											gactccatctcaaaaaaaaaaa	0.436													2	4	---	---	---	---					
AC068282.3	0	broad.mit.edu	37	2	128151234	128151234	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:128151234delT	ENST00000433673.1	+	0	56																											atcattatgattttttttttc	0.378													2	4	---	---	---	---					
AC079305.11	0	broad.mit.edu	37	2	177908329	177908329	+	RNA	DEL	T	T	-	rs67735895		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:177908329delT	ENST00000441205.1	-	0	370																											tctgccttccttttcctctcc	0.468													2	4	---	---	---	---					
LANCL1-AS1	102724820	broad.mit.edu	37	2	211190856	211190856	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr2:211190856delT	ENST00000433296.1	+	0	76				AC007970.1_ENST00000420418.1_RNA																							cagttcattctttagtatgat	0.378													2	4	---	---	---	---					
RP11-325B23.2	0	broad.mit.edu	37	3	98125436	98125436	+	RNA	DEL	G	G	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr3:98125436delG	ENST00000508616.1	+	0	188																											gtcatgaggtggagccaagat	0.443													2	4	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19724811	19724814	+	RNA	DEL	AGAG	AGAG	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr4:19724811_19724814delAGAG	ENST00000511431.1	+	0	288																											AAAAAAAAACagagagagagagag	0.377													4	4	---	---	---	---					
LOC101929505	101929505	broad.mit.edu	37	5	16389148	16389148	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr5:16389148delA	ENST00000513157.1	-	0	1433																											gcctatattcaaaaaaaaaaa	0.468													2	4	---	---	---	---					
LOC285638	285638	broad.mit.edu	37	5	108607385	108607385	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr5:108607385delA	ENST00000512693.1	-	0	4472																											cttttgctgtaaagaagctct	0.393													2	4	---	---	---	---					
CTB-49A3.2	0	broad.mit.edu	37	5	132531906	132531906	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr5:132531906delT	ENST00000509051.1	+	0	75																											GGATGATAGCTTTGGCCGTGG	0.597													2	4	---	---	---	---					
LINC01276	103106903	broad.mit.edu	37	6	41482044	41482044	+	RNA	DEL	G	G	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr6:41482044delG	ENST00000416951.1	+	0	339				RP11-328M4.2_ENST00000440194.1_RNA																							tataggatccgaaggcctggc	0.488													2	4	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44038273	44038274	+	RNA	INS	-	-	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:44038273_44038274insA	ENST00000427076.1	-	0	444					NR_003655.2																						TATTTTTTATCAAAAAAAAAtt	0.460													2	4	---	---	---	---					
AC004901.1	0	broad.mit.edu	37	7	47068684	47068685	+	RNA	INS	-	-	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:47068684_47068685insA	ENST00000433337.1	-	0	237				AC004870.3_ENST00000412996.1_RNA																							gactctgtctcaaaaaaaaaaa	0.485													4	3	---	---	---	---					
LOC100289098	100289098	broad.mit.edu	37	7	65959252	65959252	+	RNA	DEL	G	G	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:65959252delG	ENST00000445681.1	+	0	320																											ATAAGCGATCGggccgggcgc	0.532													5	2	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66278612	66278612	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:66278612delA	ENST00000457166.1	-	0	875					NR_003934.1																						ggcccaatgtaggcggatcac	0.483													2	4	---	---	---	---					
RP5-945F2.3	0	broad.mit.edu	37	7	67657307	67657308	+	RNA	INS	-	-	C	rs59309892	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:67657307_67657308insC	ENST00000446187.1	-	0	317																											tgaatttatgtcttttcaggga	0.386													3	3	---	---	---	---					
SEMA3C	10512	broad.mit.edu	37	7	80427480	80427480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:80427480delA	ENST00000265361.3	-	11	1620	c.1059delT	c.(1057-1059)ttfs	p.F353fs	SEMA3C_ENST00000544525.1_Frame_Shift_Del_p.F371fs|SEMA3C_ENST00000536800.1_Frame_Shift_Del_p.F205fs|SEMA3C_ENST00000419255.2_Frame_Shift_Del_p.F353fs	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	353	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTTTGTGGGCAAAAGGCCCAT	0.403													7	126	---	---	---	---					
COL26A1	136227	broad.mit.edu	37	7	101117713	101117713	+	RNA	DEL	A	A	-	rs5886194		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:101117713delA	ENST00000313669.7	+	0	577				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		ccccatctctaaaaaaaaaaa	0.517													3	5	---	---	---	---					
AC005276.1	0	broad.mit.edu	37	7	125559083	125559083	+	RNA	DEL	T	T	-	rs57510296		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:125559083delT	ENST00000411856.1	+	0	248																											gcactctcaatttttccatcc	0.418													2	4	---	---	---	---					
AC016831.7	0	broad.mit.edu	37	7	130560490	130560490	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr7:130560490delT	ENST00000447430.1	+	0	156																											CTCAGTATTGTTTTTGGTCTA	0.368													2	4	---	---	---	---					
ERICH1-AS1	619343	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA																							GGTGGCTGGCAGGGCAGGGTGG	0.713													3	6	---	---	---	---					
CTD-2281E23.3	0	broad.mit.edu	37	8	1198253	1198253	+	RNA	DEL	G	G	-	rs72237327		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:1198253delG	ENST00000517950.1	-	0	278																											AGATCAGTGTGGGAGTGATGG	0.577													2	4	---	---	---	---					
RP11-145O15.3	0	broad.mit.edu	37	8	13445687	13445687	+	RNA	DEL	G	G	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:13445687delG	ENST00000529018.1	-	0	74																											ATTACATAATGGCAGAGAAAA	0.403													2	4	---	---	---	---					
UBXN8	7993	broad.mit.edu	37	8	30607826	30607826	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:30607826delA	ENST00000519246.1	+	0	287							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						ccatctctacaaaaaatacag	0.577													2	4	---	---	---	---					
LOC101929268	101929268	broad.mit.edu	37	8	49606134	49606135	+	RNA	DEL	GT	GT	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:49606134_49606135delGT	ENST00000522575.1	+	0	356																											CCAGGATTGCGTGTGTGTGGGG	0.619													2	4	---	---	---	---					
RP11-398G24.2	0	broad.mit.edu	37	8	122997977	122997977	+	RNA	DEL	C	C	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr8:122997977delC	ENST00000523792.1	-	0	160																											gccttggcctcccaaagtgct	0.483													2	4	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66462754	66462755	+	RNA	INS	-	-	T	rs148782004	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:66462754_66462755insT	ENST00000424345.1	+	0	224																											gatatttctaattttttgatat	0.312													2	4	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66466800	66466800	+	RNA	DEL	G	G	-	rs139943429	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:66466800delG	ENST00000424345.1	+	0	1433																											CCTCATCAGAGGACCCCAGAT	0.522													5	9	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68402732	68402733	+	RNA	INS	-	-	TGAAT			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:68402732_68402733insTGAAT	ENST00000417843.2	-	0	224																											ATCTCACATGATGAAGACTAAA	0.287													2	4	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68404895	68404896	+	RNA	INS	-	-	C			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:68404895_68404896insC	ENST00000417843.2	-	0	224																											tagcctaccaaccccccaaaaa	0.391													10	14	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68407141	68407142	+	RNA	INS	-	-	G	rs112923191	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr9:68407141_68407142insG	ENST00000417843.2	-	0	224																											acaacacccaactcttttcaaa	0.381													7	17	---	---	---	---					
PIPSL	266971	broad.mit.edu	37	10	95718421	95718422	+	RNA	INS	-	-	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr10:95718421_95718422insT	ENST00000480546.1	-	0	2875_2876					NR_002319.2																						ttctttctttcttttttttttG	0.307													2	4	---	---	---	---					
RP11-284H19.1	0	broad.mit.edu	37	12	20516916	20516916	+	RNA	DEL	A	A	-	rs75677125		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:20516916delA	ENST00000535755.1	-	0	422																											TGGCAGCATTAAAAAAAAAAA	0.348													2	4	---	---	---	---					
RP11-428G5.5	0	broad.mit.edu	37	12	32037770	32037771	+	RNA	INS	-	-	CAGC	rs151292976	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:32037770_32037771insCAGC	ENST00000535163.1	-	0	37																											tgagacagatgcagccgctgct	0.550													4	4	---	---	---	---					
FLJ12825	440101	broad.mit.edu	37	12	54503718	54503718	+	RNA	DEL	G	G	-	rs79863277		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:54503718delG	ENST00000515617.1	+	0	311					NR_026655.1																						GGTAGTCCCCGCCGTGGTTCT	0.607													4	7	---	---	---	---					
RP1-71H24.1	0	broad.mit.edu	37	12	113455536	113455537	+	RNA	INS	-	-	T	rs141916386	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:113455536_113455537insT	ENST00000552784.1	-	0	19_20																											atcacttgaactcaggaggcgg	0.455													4	3	---	---	---	---					
RP11-110L15.2	0	broad.mit.edu	37	12	116290374	116290374	+	RNA	DEL	C	C	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:116290374delC	ENST00000546414.1	-	0	155																											GTCTCCTAAGCCCATCTTCCT	0.393													2	4	---	---	---	---					
LOC101927592	101927592	broad.mit.edu	37	12	127420271	127420272	+	RNA	DEL	AG	AG	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:127420271_127420272delAG	ENST00000512624.2	-	0	685																											GTGCAAGCACAGAATGCTTCCA	0.431													2	4	---	---	---	---					
RP11-897M7.1	0	broad.mit.edu	37	12	131962844	131962845	+	RNA	DEL	CA	CA	-	rs1405523	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr12:131962844_131962845delCA	ENST00000535133.1	-	0	195																											ggcacacgtgcacacacacaca	0.465													5	2	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20113546	20113546	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr14:20113546delA	ENST00000548261.1	+	0	245																											tgcagccttgacctcctgggc	0.438													6	1	---	---	---	---					
LOC102723461	102723461	broad.mit.edu	37	15	21960617	21960618	+	RNA	INS	-	-	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr15:21960617_21960618insT	ENST00000500487.1	-	0	254																											AGTTGTATCAATTTTTTTTTCT	0.317													2	4	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25227495	25227495	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr15:25227495delA	ENST00000551631.2	+	0	798				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTCTCGGATTAAAAAAAAAAA	0.398													2	4	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45748477	45748477	+	RNA	DEL	C	C	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr15:45748477delC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA																							GTCTGGGCAGCAGGTTGTGGG	0.622													2	4	---	---	---	---					
AC009997.1	0	broad.mit.edu	37	15	56053226	56053227	+	RNA	INS	-	-	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr15:56053226_56053227insA	ENST00000408291.1	-	0	73_74																											gagtccatctcaaaaaaaaaaa	0.455													3	3	---	---	---	---					
LOC101928955	101928955	broad.mit.edu	37	15	63189489	63189489	+	RNA	DEL	G	G	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr15:63189489delG	ENST00000557900.1	+	0	332																											AGACCAAAGAGGCAGAGCCGC	0.602													2	4	---	---	---	---					
RP11-386M24.3	0	broad.mit.edu	37	15	93140949	93140949	+	RNA	DEL	C	C	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr15:93140949delC	ENST00000555864.1	+	0	206																											GGACCTTCCTCCCCACTCCCA	0.493													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5704792	5704793	+	RNA	DEL	CT	CT	-	rs62014430		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:5704792_5704793delCT	ENST00000569895.1	+	0	403																											TCCTTCTTTCctctctctctct	0.535													2	4	---	---	---	---					
RP11-279O17.3	0	broad.mit.edu	37	16	8365834	8365835	+	RNA	INS	-	-	A	rs76999118		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:8365834_8365835insA	ENST00000564185.1	+	0	223																											gagactctgtcaaaaaaaaaaa	0.475													2	4	---	---	---	---					
CTD-3037G24.3	0	broad.mit.edu	37	16	12679963	12679964	+	RNA	DEL	AT	AT	-	rs149339607		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:12679963_12679964delAT	ENST00000564505.1	-	0	307																											ATGCAAACACATAAGCACTATA	0.386													6	1	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32094264	32094264	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:32094264delT	ENST00000566806.1	-	0	499																											gtgggtatcatgaaaattatg	0.443													2	4	---	---	---	---					
RP11-410D17.2	0	broad.mit.edu	37	16	59016516	59016517	+	RNA	INS	-	-	T			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:59016516_59016517insT	ENST00000500117.1	+	0	679																											gtttttctgcctttttttttcc	0.426													2	4	---	---	---	---					
LINC01572	101927957	broad.mit.edu	37	16	72638767	72638768	+	RNA	INS	-	-	A			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:72638767_72638768insA	ENST00000561611.2	-	0	113																											ccacacatttgaaaaaaaaaaa	0.322													2	4	---	---	---	---					
ZNRF1	84937	broad.mit.edu	37	16	75033786	75033787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr16:75033786_75033787insG	ENST00000335325.4	+	1	859_860	c.217_218insG	c.(217-219)cccfs	p.P73fs	ZNRF1_ENST00000567962.1_Frame_Shift_Ins_p.P73fs|ZNRF1_ENST00000320619.6_Frame_Shift_Ins_p.P73fs|ZNRF1_ENST00000566250.1_Frame_Shift_Ins_p.P73fs	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	73						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						TGGCCTCTACACCCCCGCCTCC	0.743													2	4	---	---	---	---					
MYHAS	100128560	broad.mit.edu	37	17	10484500	10484500	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:10484500delT	ENST00000587182.1	+	0	231				CTC-297N7.7_ENST00000579914.1_RNA																							GCTGAAGTTGTTCATCAAACC	0.537													2	4	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15747583	15747583	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:15747583delA	ENST00000584636.1	+	0	316																											actgaacattaaaaaaAAAAT	0.418													4	8	---	---	---	---					
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)ggg>gg	p.GK281del	DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	281						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507													7	1398	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)del	p.E100del		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	100	Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783													3	6	---	---	---	---					
RP13-516M14.2	0	broad.mit.edu	37	17	80173535	80173535	+	RNA	DEL	C	C	-	rs112012232		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr17:80173535delC	ENST00000581303.1	+	0	1371																											tccttccctgccccccacact	0.701													3	3	---	---	---	---					
RP11-172F10.1	0	broad.mit.edu	37	18	4986865	4986866	+	RNA	INS	-	-	CT	rs148493413	by1000genomes	TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr18:4986865_4986866insCT	ENST00000584204.1	-	0	243																											aggtctggcccgtgtacagcca	0.619													4	3	---	---	---	---					
LINC00669	647946	broad.mit.edu	37	18	37279625	37279625	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr18:37279625delA	ENST00000591629.1	-	0	282					NR_024391.1																						AGGGAAAAAGAAAAAAAAAAA	0.378													2	4	---	---	---	---					
CTC-400I9.2	0	broad.mit.edu	37	19	31352217	31352217	+	RNA	DEL	A	A	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr19:31352217delA	ENST00000585364.1	+	0	106																											GCATCCGGGGAAGGGAATGAA	0.473													2	4	---	---	---	---					
LIPE-AS1	100996307	broad.mit.edu	37	19	43006783	43006783	+	RNA	DEL	T	T	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr19:43006783delT	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NR_073179.1																						gcgaattctgttttttttttt	0.488													3	4	---	---	---	---					
FAM182A	284800	broad.mit.edu	37	20	26054990	26054992	+	RNA	DEL	CAC	CAC	-	rs111574025		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:26054990_26054992delCAC	ENST00000376398.2	+	0	819					NR_026713.1															breast(1)|endometrium(2)|kidney(1)	4						acttcattatcaccacctCcacc	0.458													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29588147	29588148	+	RNA	INS	-	-	T	rs73621635		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:29588147_29588148insT	ENST00000432067.1	-	0	152																											attttgatgccttttttttctc	0.356													10	7	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29588351	29588352	+	RNA	DEL	GA	GA	-	rs111658283		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:29588351_29588352delGA	ENST00000432067.1	-	0	152																											ttattttgttgagagttttatc	0.267													7	18	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29591671	29591673	+	RNA	DEL	AGA	AGA	-	rs73620377		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:29591671_29591673delAGA	ENST00000432067.1	-	0	152																											CAAAAGCAGCAGAAGTTAGCTTT	0.424													15	9	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29593345	29593346	+	RNA	DEL	AG	AG	-	rs113305967		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr20:29593345_29593346delAG	ENST00000432067.1	-	0	74																											aaattgactaagacaATTGGTG	0.347													6	5	---	---	---	---					
TEKT4P2	100132288	broad.mit.edu	37	21	9926786	9926788	+	RNA	DEL	AGT	AGT	-	rs71294828		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr21:9926786_9926788delAGT	ENST00000416067.1	-	0	129					NR_037872.1|NR_038327.1																						CGGACTGTGGAGTAGATCACAGA	0.621													3	4	---	---	---	---					
TEKT4P2	100132288	broad.mit.edu	37	21	9963668	9963669	+	RNA	INS	-	-	G	rs28400380		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr21:9963668_9963669insG	ENST00000416067.1	-	0	129					NR_037872.1|NR_038327.1																						ggaggatttttttttttctgag	0.495													4	7	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11040375	11040385	+	RNA	DEL	CTGATACCAAA	CTGATACCAAA	-	rs113804557		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr21:11040375_11040385delCTGATACCAAA	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATACATGTTctgataccaaactgataccaa	0.389													5	9	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11088897	11088898	+	RNA	INS	-	-	G	rs145017981		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr21:11088897_11088898insG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACAAAAAAAGTTTCCAGTGA	0.287													6	8	---	---	---	---					
LL22NC03-86D4.1	0	broad.mit.edu	37	22	34531561	34531562	+	RNA	DEL	TT	TT	-	rs143306650		TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr22:34531561_34531562delTT	ENST00000412218.1	+	0	198																											GTACAGACTCTTTTCCCAACAC	0.416													3	3	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EB-A5VU-01A-21D-A32N-08	TCGA-EB-A5VU-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f6382eb-14ec-45a5-9dd7-4cccb8328d7b	9cf54713-0f42-4733-ab7a-7da522344c59	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					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						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	246	---	---	---	---					
