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
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGGTGGTCAAAGAGCTTCCA	0.647000													4	23					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	154003524	154003524	+	Silent	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:154003524T>A	ENST00000369550.5	+	13	1524	c.1314T>A	c.(1312-1314)gtT>gtA	p.V438V	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	438					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCAGGTAGTTGCCGAAGCAG	0.468000									Congenital Dyskeratosis				39	49					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								5	109					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135715913	135715913	+	Splice_Site	SNP	C	C	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr6:135715913C>G	ENST00000367800.4	-	21	3326		c.e21+1		AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000417892.2_Splice_Site|AHI1_ENST00000457866.2_Splice_Site	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1							adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AAGGGGCTCACCGGTCTGAGT	0.388000													3	6					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													3	34					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74390223	74390223	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr14:74390223G>C	ENST00000555044.1	+	11	1590	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	ZNF410_ENST00000334521.4_Missense_Mutation_p.E413Q|ZNF410_ENST00000540593.1_Missense_Mutation_p.E393Q|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.E483Q|ZNF410_ENST00000324593.6_Missense_Mutation_p.E419Q	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AAATCCACAAGAGGTAAAGTG	0.443000													40	54					0	0	1	0	0
HERC2P2	0	broad.mit.edu	37	15	23300080	23300080	+	RNA	SNP	T	T	C	rs28482434	by1000genomes	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:23300080T>C	ENST00000560464.1	-	0	4207																											TGCTGCACGTTGACAGGCGTG	0.612000													3	39					0	0	1	0	0
HERC2P2	0	broad.mit.edu	37	15	23300079	23300079	+	RNA	SNP	T	T	G	rs417713	by1000genomes	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:23300079T>G	ENST00000560464.1	-	0	4208																											GTGCTGCACGTTGACAGGCGT	0.607000													3	39					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704689	37704689	+	Silent	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:37704689G>A	ENST00000220659.6	-	3	339	c.219C>T	c.(217-219)ctC>ctT	p.L73L	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Silent_p.L73L	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	73					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCACTCGCCGGAGACCTAGGA	0.498000													18	25					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43898562	43898562	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr22:43898562G>A	ENST00000417669.1	+	6	1231	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	MPPED1_ENST00000414469.2_Missense_Mutation_p.G157S|MPPED1_ENST00000538182.1_Missense_Mutation_p.G296S|MPPED1_ENST00000439548.1_Missense_Mutation_p.G105S|MPPED1_ENST00000443721.1_Missense_Mutation_p.G263S|MPPED1_ENST00000542779.1_Missense_Mutation_p.G263S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	263							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCAGCGGGTGGGCTGTGTGGA	0.632000													20	139					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346615	71346615	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr4:71346615C>T	ENST00000413702.1	+	4	442	c.154C>T	c.(154-156)Cta>Tta	p.L52L	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.L52L|MUC7_ENST00000304887.5_Silent_p.L52L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	52						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCTGGACTGCTAGCTCACCA	0.458000													4	98					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	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)		CCATCATGCCAGGGGGGTATG	0.622000													4	87					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15149	15149	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrM:15149T>C	ENST00000361789.2	+	1	403	c.403T>C	c.(403-405)Tga>Cga	p.135_135insR						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						ATGTCCTCCCGTGAGGCCAAA	0.453000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	11	0					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731482	45731482	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr19:45731482C>T	ENST00000413988.1	-	3	173	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E45K	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	45										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGTGCTCTTCGTCCTCCTGC	0.642000													5	229					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241447070	241447070	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:241447070G>T	ENST00000391987.1	-	13	2532	c.2166C>A	c.(2164-2166)aaC>aaA	p.N722K	ANKMY1_ENST00000272972.3_Missense_Mutation_p.N722K|ANKMY1_ENST00000403283.1_Missense_Mutation_p.N624K|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N811K|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Missense_Mutation_p.N492K|ANKMY1_ENST00000361678.4_Missense_Mutation_p.N498K|ANKMY1_ENST00000406958.1_Missense_Mutation_p.N483K			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	722							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGGGCAGGTTGGGGTCAG	0.592000													20	20					5.45024e-15	5.69798e-15	1	1	0
NUP35	129401	broad.mit.edu	37	2	183998333	183998333	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:183998333A>G	ENST00000295119.4	+	4	482	c.379A>G	c.(379-381)Aca>Gca	p.T127A	NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.T110A	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	127					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TGTTGGAGTTACATCTACTCC	0.373000													2	6					0	0	1	0	0
SNHG1	0	broad.mit.edu	37	11	62621150	62621150	+	RNA	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr11:62621150G>C	ENST00000384693.1	-	0	54					NR_002561.1																						TCAGATTTCAGAGTCTCAACA	0.448000													3	98					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20430680	20430680	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:20430680A>C	ENST00000331849.4	+	4	693	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ACSM5_ENST00000575584.1_Missense_Mutation_p.E182D	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	182			E -> K (in dbSNP:rs7192210).		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCAGTGCCGAATGCCCCTCCC	0.587000													25	37					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947659	165947659	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:165947659G>C	ENST00000360093.3	-	28	5495	c.5004C>G	c.(5002-5004)atC>atG	p.I1668M	SCN3A_ENST00000283254.7_Missense_Mutation_p.I1668M|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1619M|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.I151M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1668						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGATGGCATAGATAAACATGA	0.458000													31	39					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5353712	5353712	+	Silent	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:5353712G>A	ENST00000225296.3	-	10	1739	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	DHX33_ENST00000433302.3_Silent_p.S289S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	513						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGAATTTGGGGGACATGAGGA	0.473000													3	94					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													5	34					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153042366	153042366	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153042366C>T	ENST00000538966.1	+	30	5198	c.4927C>T	c.(4927-4929)Ctc>Ttc	p.L1643F	PLXNB3_ENST00000361971.5_Missense_Mutation_p.L1620F|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1273F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1620					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAGTGGGGCTCGTCCCTCA	0.682000													11	10					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130506914	130506914	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr9:130506914T>A	ENST00000314830.8	-	7	1842	c.1729A>T	c.(1729-1731)Aag>Tag	p.K577*	SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.K223*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.K417*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.K509*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.K420*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.K419*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	577					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTTGACCTTGCGCAGAAGG	0.622000													18	115					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69171306	69171306	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr3:69171306C>T	ENST00000420581.2	-	1	411	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	LMOD3_ENST00000489031.1_Missense_Mutation_p.E78K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E78K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	78						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GATGCCTTTTCCCAATACATA	0.463000													3	2					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48788300	48788300	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:48788300C>T	ENST00000316623.5	-	20	2871	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	806	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTACCTTCACATGTTTTT	0.358000													12	13					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118797459	118797459	+	Silent	SNP	G	G	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:118797459G>T	ENST00000394610.1	-	3	591	c.327C>A	c.(325-327)atC>atA	p.I109I	SEPT6_ENST00000489216.1_Silent_p.I109I|SEPT6_ENST00000394616.4_Silent_p.I51I|SEPT6_ENST00000394617.2_Silent_p.I139I|SEPT6_ENST00000343984.5_Silent_p.I109I|SEPT6_ENST00000360156.7_Silent_p.I109I|SEPT6_ENST00000354416.3_Silent_p.I109I|SEPT6_ENST00000354228.4_Silent_p.I109I	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	109					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCTCTTTGTTGATCTGGTCCC	0.557000			T	MLL	AML								19	282					9.95505e-16	1.06496e-15	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44055183	44055183	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:44055183C>T	ENST00000405322.1	-	4	1226	c.330G>A	c.(328-330)ggG>ggA	p.G110G	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Silent_p.G191G			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	191	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGAAATGCCCCCCAAGCTGT	0.592000													10	54					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218818	71218818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:71218818G>A	ENST00000393567.2	-	3	361	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R88*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R98*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R71*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R71*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R88*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	71										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCTGTGGTCGGCACATCAAA	0.463000													3	73					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74476216	74476216	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:74476216C>G	ENST00000323940.5	-	14	1526	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	STRA6_ENST00000563965.1_Missense_Mutation_p.Q466H|STRA6_ENST00000574278.1_Missense_Mutation_p.Q442H|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000535552.1_Missense_Mutation_p.Q464H|STRA6_ENST00000449139.2_Missense_Mutation_p.Q427H|STRA6_ENST00000423167.2_Missense_Mutation_p.Q418H|STRA6_ENST00000395105.4_Missense_Mutation_p.Q427H|STRA6_ENST00000416286.3_Missense_Mutation_p.Q419H	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	427					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAAAGGCTGTCTGGTAGGCAC	0.612000													84	107					0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40725136	40725136	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:40725136T>G	ENST00000393795.3	-	7	694	c.586A>C	c.(586-588)Aag>Cag	p.K196Q	PSMC3IP_ENST00000587209.1_Missense_Mutation_p.K133Q|MLX_ENST00000435881.2_3'UTR|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.K184Q|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.K71Q|MLX_ENST00000246912.4_3'UTR|MLX_ENST00000346833.4_3'UTR	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	196					DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AAGAACTGCTTCTTGCTCTTG	0.488000													17	13					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296554	39296554	+	Silent	SNP	A	A	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:39296554A>G	ENST00000345847.4	-	1	185	c.186T>C	c.(184-186)cgT>cgC	p.R62R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						agcagctgggacggcagcAGG	0.672000													6	219					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409913	1409913	+	Silent	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:1409913G>A	ENST00000270349.9	-	10	1448	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	SLC6A3_ENST00000453492.2_Silent_p.L441L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	441					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGTCTGTGCAGCAGCTGGAAC	0.617000													4	145					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895223	145895223	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:145895223A>C	ENST00000311104.2	-	1	530	c.454T>G	c.(454-456)Tac>Gac	p.Y152D		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	152						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATGGTGTAGTTGTGGATA	0.527000													52	82					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6691343	6691343	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr12:6691343A>C	ENST00000309577.6	-	29	4722	c.4559T>G	c.(4558-4560)gTc>gGc	p.V1520G	CHD4_ENST00000544040.1_Missense_Mutation_p.V1485G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1517G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1492G|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTAGTAAGGACATGCTGGCG	0.542000													4	53					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89732216	89732216	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:89732216G>C	ENST00000343435.5	-	7	1217	c.681C>G	c.(679-681)ttC>ttG	p.F227L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.F227L	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	227						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTTTTGGAAAGAACTTCTGTA	0.368000													15	16					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57015114	57015114	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:57015114C>T	ENST00000200676.3	+	12	1321	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	CETP_ENST00000379780.2_Silent_p.L337L|CETP_ENST00000566128.1_Silent_p.L332L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	397					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGAAAAAGCTCTTCTTAAGCC	0.547000													13	28					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153668409	153668409	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153668409C>T	ENST00000447750.2	+	5	845	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	170					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATGCGTGACGTCTACCGGA	0.572000													8	468					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324773	103324773	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:103324773A>G	ENST00000233969.2	+	12	2406	c.2264A>G	c.(2263-2265)aAg>aGg	p.K755R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	755						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCAGAGAAAAGGGCACCCAG	0.532000													3	107					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7800502	7800502	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:7800502G>C	ENST00000380358.4	+	11	1987	c.1986G>C	c.(1984-1986)aaG>aaC	p.K662N	CHD3_ENST00000358181.4_Missense_Mutation_p.K603N|CHD3_ENST00000330494.7_Missense_Mutation_p.K603N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	603	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGATGGGAAGAGCGACAAGC	0.512000													36	53					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381186	147381186	+	Frame_Shift_Del	DEL	G	G	-	rs145146702	byFrequency	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:147381186delG	ENST00000240986.4	+	2	1157	c.1104delG	c.(1102-1104)gafs	p.E368fs	GJA8_ENST00000369235.1_Frame_Shift_Del_p.E368fs	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	368					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E368D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGTGCCAGAGGGGGAGAAAG	0.612													2	4	---	---	---	---					
STAB1	23166	broad.mit.edu	37	3	52547907	52547908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr3:52547907_52547908insC	ENST00000321725.6	+	32	3433_3434	c.3357_3358insC	c.(3355-3360)ctccccfs	p.LP1119fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1119					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTCTTACTGCCCCCCCGAGG	0.624													7	517	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	90087090	90087090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:90087090delA	ENST00000405460.2	+	70	14540	c.14444delA	c.(14443-14445)gafs	p.E4815fs	GPR98_ENST00000425867.2_Frame_Shift_Del_p.E476fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4815					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTTACCGAAAATGCAGAG	0.448													2	4	---	---	---	---					
CALD1	800	broad.mit.edu	37	7	134618624	134618625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr7:134618624_134618625insC	ENST00000361675.2	+	5	1333_1334	c.1104_1105insC	c.(1102-1107)gaagagfs	p.EE368fs	CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	368	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gggcagcagaggagaggCAAAG	0.505													2	4	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133978928	133978929	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:133978928_133978929insA	ENST00000220616.4	+	30	5712_5713	c.5672_5673insA	c.(5671-5673)ctgfs	p.L1891fs	TG_ENST00000542445.1_Frame_Shift_Ins_p.L261fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.L1834fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.L45fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1891					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGCAAACCTATGGTGCCTTT	0.480													26	34	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	RNA	DEL	TCC	TCC	-			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr11:63533335_63533337delTCC	ENST00000433688.1	-	0	597_599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										ctcctcttcttcctcctcctcct	0.670													3	5	---	---	---	---					
NR2E3	10002	broad.mit.edu	37	15	72103780	72103795	+	RNA	DEL	GGCCCAGCCCTGCCCT	GGCCCAGCCCTGCCCT	-	rs11271584	by1000genomes	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:72103780_72103795delGGCCCAGCCCTGCCCT	ENST00000398840.2	+	0	308							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						gccctgccccggcccagccctgccctggcccagccc	0.690													3	4	---	---	---	---					
