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
ADCYAP1R1	117	broad.mit.edu	37	7	31126609	31126609	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:31126609T>G	ENST00000304166.4	+	11	1165	c.876T>G	c.(874-876)gaT>gaG	p.D292E	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.D271E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	292					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCTACTTTGATGACACAGGGT	0.512000													20	135					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5576482	5576482	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr4:5576482T>C	ENST00000310917.2	-	19	3781	c.3050A>G	c.(3049-3051)cAg>cGg	p.Q1017R	EVC2_ENST00000344938.1_Missense_Mutation_p.Q1097R|EVC2_ENST00000344408.5_Missense_Mutation_p.Q1097R	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1097						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GACACTGTTCTGTTGTTCCTC	0.408000													16	76					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170553	113170553	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr9:113170553G>T	ENST00000401783.2	-	38	7663	c.7327C>A	c.(7327-7329)Cct>Act	p.P2443T	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2420T|SVEP1_ENST00000297826.5_Missense_Mutation_p.P369T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2443	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTTCCTCAGGTTGGGGACAT	0.498000													4	61					0.00024832	0.00026638	1	1	0
RAD18	56852	broad.mit.edu	37	3	8944154	8944154	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:8944154C>T	ENST00000264926.2	-	10	1194	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	360					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTGTATCCTTTTCTAGCC	0.343000								Rad6 pathway					5	55					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683986	100683986	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:100683986A>T	ENST00000306151.4	+	3	9353	c.9289A>T	c.(9289-9291)Atc>Ttc	p.I3097F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3097	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATGCCAATCTCAACTTA	0.488000													6	701					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850337	3850337	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:3850337C>T	ENST00000380274.1	+	1	718	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	FAM50B_ENST00000380272.3_Missense_Mutation_p.R98W			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	98						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGAGGagcagcggctgcagca	0.687000													3	32					0	0	1	0	0
FAM5B	0	broad.mit.edu	37	1	177247905	177247905	+	Missense_Mutation	SNP	C	C	T	rs146557924		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:177247905C>T	ENST00000361539.4	+	7	1531	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		407						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCCTCGCTTCCGCCTGCCCAA	0.612000													4	125					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209992	100209992	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:100209992C>A	ENST00000317233.4	-	14	2366	c.2131G>T	c.(2131-2133)Gcc>Tcc	p.A711S	AFF3_ENST00000409236.1_Missense_Mutation_p.A711S|AFF3_ENST00000356421.2_Missense_Mutation_p.A736S|AFF3_ENST00000409579.1_Missense_Mutation_p.A736S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	711					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGGCAGCGGCCTCCTTCAGC	0.632000													14	142					4.14922e-12	4.70777e-12	1	1	0
PRKX	5613	broad.mit.edu	37	X	3573441	3573441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:3573441C>T	ENST00000262848.5	-	3	702	c.348G>A	c.(346-348)tgG>tgA	p.W116*	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	116	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCTCGTCATGCCACGTCCAGA	0.662000													3	27					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	87					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146125919	146125919	+	Silent	SNP	A	A	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:146125919A>C	ENST00000237281.4	-	2	1789	c.1623T>G	c.(1621-1623)ggT>ggG	p.G541G		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	541							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CATGAATGTCACCATGCACAT	0.423000													14	116					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					cell communication|protein transport		phosphatidylinositol binding	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632000											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	273					0	0	1	0	0
SLC9A7P1	0	broad.mit.edu	37	12	98849035	98849035	+	RNA	SNP	C	C	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:98849035C>A	ENST00000554295.1	-	0	1888					NR_033801.1																						CGCTGTGTCTCCACCAGGCGG	0.597000													4	8					1	1	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	81					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817087	43817087	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:43817087G>C	ENST00000382031.1	+	5	4161	c.4130G>C	c.(4129-4131)aGa>aCa	p.R1377T	MAP1A_ENST00000300231.5_Missense_Mutation_p.R1139T|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1139T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1139						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGGTGCTCAGATATCCTGAC	0.567000													12	118					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													6	100					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42833111	42833111	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:42833111C>T	ENST00000314073.5	+	13	3343	c.3167C>T	c.(3166-3168)cCg>cTg	p.P1056L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P1056L					GLTSCR1-like																		AAGTTCATCCCGGACCACAGT	0.498000													4	170					0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81154106	81154106	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:81154106T>C	ENST00000372336.3	-	3	724	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.D120G|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	180							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTCCCGCTCATCCATTTTCTC	0.592000													9	151					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	128					0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82746933	82746933	+	Silent	SNP	A	A	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:82746933A>G	ENST00000256151.7	-	4	1134	c.723T>C	c.(721-723)tgT>tgC	p.C241C	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						AAAATGTTTAACATTTTTCTT	0.343000													7	51					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235647823	235647823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:235647823G>A	ENST00000366600.3	-	4	598	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.Q165*|B3GALNT2_ENST00000478199.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	124					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TCAATTTCCTGATTCAAAACT	0.413000													8	188					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													6	285					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39911629	39911629	+	Silent	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:39911629C>T	ENST00000342274.4	-	15	5261	c.4899G>A	c.(4897-4899)tcG>tcA	p.S1633S	BCOR_ENST00000378455.4_Silent_p.S1615S|BCOR_ENST00000397354.3_Silent_p.S1633S|BCOR_ENST00000378463.1_Silent_p.S510S|BCOR_ENST00000378444.4_Silent_p.S1667S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1667					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAAGGACATCCGAAAGCAGTA	0.403000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						3	37					0	0	1	0	0
NEURL	0	broad.mit.edu	37	10	105330664	105330664	+	Silent	SNP	C	C	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:105330664C>A	ENST00000369780.4	+	2	530	c.121C>A	c.(121-123)Cga>Aga	p.R41R	NEURL_ENST00000369777.2_Silent_p.R24R	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		41					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CACTTCTCACCGATGCCACCA	0.647000													5	339					0.217242	0.220988	1	1	0
TTN	7273	broad.mit.edu	37	2	179428058	179428058	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:179428058G>T	ENST00000589042.1	-	326	83025	c.82801C>A	c.(82801-82803)Cct>Act	p.P27601T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25960T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18661T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25033T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18536T|TTN_ENST00000342175.6_Missense_Mutation_p.P18728T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25960	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTAACAGGTGCGCCACCA	0.493000													9	70					1.12685e-05	1.25442e-05	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128599549	128599549	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:128599549C>G	ENST00000371122.4	-	23	3107	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R981P|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R981P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	993	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGGAGCATTTCGTACACACTG	0.338000													21	48					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787								p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612000													4	45					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37035090	37035090	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37035090C>T	ENST00000231790.2	+	1	268	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	18			R -> C (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGTGGTGAACCGCATCGCGGC	0.567000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	120					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187960	70187960	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:70187960A>T	ENST00000320256.4	-	1	1437	c.861T>A	c.(859-861)gaT>gaA	p.D287E		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	287	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTGGAGCACATCAGTGCCAA	0.567000													27	147					0	0	1	0	0
ANXA2	302	broad.mit.edu	37	15	60656720	60656720	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:60656720C>T	ENST00000396024.3	-	5	310	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ANXA2_ENST00000332680.4_Missense_Mutation_p.V69M|ANXA2_ENST00000451270.2_Missense_Mutation_p.V51M|ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000421017.2_Missense_Mutation_p.V51M	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	51					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ACCTCATCCACACCTATGGAA	0.408000													6	54					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78314067	78314067	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:78314067A>G	ENST00000582970.1	+	26	6043	c.5900A>G	c.(5899-5901)tAc>tGc	p.Y1967C	RNF213_ENST00000336301.6_Missense_Mutation_p.Y40C|RNF213_ENST00000508628.2_Missense_Mutation_p.Y2016C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGTCACTACCGGGTCCCG	0.642000													4	60					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	81					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	94										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542000													5	184					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57966837	57966837	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966837T>C	ENST00000321039.3	-	1	1017	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	340					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TTCCTTGTCCTGCAGGCAAAA	0.428000													7	96					0	0	1	0	0
AJ271736.10	0	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:155254735C>G	ENST00000285718.7	+	0	1180				WASH6P_ENST00000461007.1_RNA														p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587000													4	12					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	rs139085046	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502000													7	98					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	43					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68689274	68689274	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:68689274G>T	ENST00000509734.1	+	14	2080	c.1402G>T	c.(1402-1404)Gtg>Ttg	p.V468L	RAD17_ENST00000305138.4_Missense_Mutation_p.V457L|RAD17_ENST00000282891.6_Missense_Mutation_p.V371L|RAD17_ENST00000358030.2_Missense_Mutation_p.V292L|RAD17_ENST00000345306.6_Missense_Mutation_p.V457L|RAD17_ENST00000380774.3_Missense_Mutation_p.V468L|RAD17_ENST00000354312.3_Missense_Mutation_p.V457L|RAD17_ENST00000521422.1_Missense_Mutation_p.V292L|RAD17_ENST00000361732.2_Missense_Mutation_p.V457L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.V457L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	468	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGATGATATTGTGAGAGCCAG	0.328000								Other conserved DNA damage response genes					5	54					3.59834e-05	3.93152e-05	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22941275	22941275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:22941275T>C	ENST00000397104.3	-	5	1162	c.1163A>G	c.(1162-1164)aAa>aGa	p.K388R	ZNF99_ENST00000596209.1_Missense_Mutation_p.K479R					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)				TTTGTAGGGTTTCTCTCCAGT	0.353000													5	35					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	104					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40689228	40689228	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:40689228G>A	ENST00000298910.7	+	23	2936		c.e23-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGACAAAAGGGTCATCAAA	0.343000													11	43					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	35					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46798996	46798996	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:46798996T>C	ENST00000529230.1	-	23	2901	c.2855A>G	c.(2854-2856)gAc>gGc	p.D952G	CKAP5_ENST00000415402.1_Missense_Mutation_p.D952G|CKAP5_ENST00000312055.5_Missense_Mutation_p.D952G|CKAP5_ENST00000354558.3_Missense_Mutation_p.D952G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	952					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACCTTGCTGTCTCCAAGGAC	0.403000													3	26					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135606	55135606	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:55135606C>G	ENST00000314706.3	+	1	247	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGCCAGTCCCTGGGTTCCCC	0.423000													28	142					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335164	42335164	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:42335164G>A	ENST00000262418.6	-	12	1449	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	432	Membrane (anion exchange).		R -> W (in ELO antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ATCTGGTTCCGGGTCTTTTCT	0.587000													8	83					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39379731	39379731	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:39379731G>A	ENST00000249396.7	-	8	798	c.497C>T	c.(496-498)aCg>aTg	p.T166M	SIRT2_ENST00000392081.2_Missense_Mutation_p.T129M|SIRT2_ENST00000358931.5_Missense_Mutation_p.T166M	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	166	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCCTACCTGCGTGTAGCAGCG	0.622000													6	108					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648265	130648265	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:130648265G>A	ENST00000539839.1	+	1	1262	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	FZD10_ENST00000229030.4_Missense_Mutation_p.E260K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCTACCCCGAGCGCCCCAT	0.662000													12	174					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45527196	45527196	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:45527196C>T	ENST00000415258.1	+	10	1172	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P344L|LARS2_ENST00000414984.1_Missense_Mutation_p.P301L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	344					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGCCTCACGCCTGTAATGGCT	0.453000													12	198					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70221156	70221156	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:70221156G>T	ENST00000253925.7	+	24	3487	c.3272G>T	c.(3271-3273)aGt>aTt	p.S1091I	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S1091I|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1091	SAM 3.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCGACTTCAGTGCACTGGCA	0.483000													4	26					0.00909568	0.00958295	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637000													3	44					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89206770	89206770	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:89206770G>A	ENST00000370521.3	+	2	507	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PKN2_ENST00000370513.5_Missense_Mutation_p.D50N|PKN2_ENST00000370505.3_Intron|PKN2_ENST00000316005.7_Missense_Mutation_p.D50N	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	50					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGATATCAAGGATCGAATTAA	0.368000													9	60					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57966864	57966864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966864G>A	ENST00000321039.3	-	1	990	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	331					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAGATATGAGTATCACTC	0.458000													6	117					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140475929	140475929	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:140475929C>A	ENST00000194155.4	+	1	1703	c.1555C>A	c.(1555-1557)Cag>Aag	p.Q519K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		519	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGCTCTCCAGTCGCTGGA	0.716000													5	285					0.184627	0.191105	1	1	0
ABCC6	368	broad.mit.edu	37	16	16256866	16256866	+	Nonsense_Mutation	SNP	G	G	A	rs72653744		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:16256866G>A	ENST00000205557.7	-	24	3519	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1164	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1164*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCCACCAGTCGCGGGAAACTG	0.547000													33	239					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24019112	24019112	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:24019112delA	ENST00000374550.3	+	2	65	c.20delA	c.(19-21)gafs	p.E7fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	7					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GATCAAGGTGAAAAGGAGAAC	0.502													20	123	---	---	---	---					
GOLGA4	2803	broad.mit.edu	37	3	37369279	37369281	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37369279_37369281delAAG	ENST00000361924.2	+	14	6276_6278	c.5902_5904delAAG	c.(5902-5904)del	p.K1969del	GOLGA4_ENST00000356847.4_In_Frame_Del_p.K1991del|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1969	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGAAATACTAAAGAAAGAATATG	0.355													9	103	---	---	---	---					
PCDH8	5100	broad.mit.edu	37	13	53421430	53421430	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr13:53421430delC	ENST00000377942.3	-	1	1345	c.1142delG	c.(1141-1143)gafs	p.G381fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G381fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	381					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGCGTCCGCTCCCCCGAGTGC	0.766													2	4	---	---	---	---					
BCAR1	9564	broad.mit.edu	37	16	75271144	75271144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:75271144delC	ENST00000546196.1	-	3	2297	c.645delG	c.(643-645)ggfs	p.G215fs	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.G242fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.G96fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.G290fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.G244fs			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	244	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGTGGCCCCGGGGCCA	0.697													2	4	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226652	88226657	+	RNA	DEL	TGATGA	TGATGA	-	rs145340383		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:88226652_88226657delTGATGA	ENST00000568587.1	-	0	91																											atggtggtggtgatgatggtgatggt	0.553													2	4	---	---	---	---					
TBC1D3P5	0	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1																						GACGCTGTTCTTttttttttt	0.453													2	4	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	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	161	---	---	---	---