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
EPB41L1	2036	broad.mit.edu	37	20	34782245	34782245	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:34782245G>A	ENST00000338074.2	+	12	1573	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	471					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTGAGGAGGGAGAGGTCAGG	0.607000													4	11					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912697	170912697	+	Silent	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr4:170912697G>C	ENST00000361618.3	-	3	1369	c.1062C>G	c.(1060-1062)ccC>ccG	p.P354P	MFAP3L_ENST00000393704.3_Silent_p.P251P|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	354						integral to membrane|plasma membrane		p.P354P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTGCAGTTTCGGGGGAATGTT	0.512000													37	67					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	772599	772599	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:772599C>T	ENST00000305108.4	-	1	346	c.66G>A	c.(64-66)acG>acA	p.T22T	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CAGGCTCCGCCGTCTGAGTCT	0.612000													4	92					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540313	103540313	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:103540313A>T	ENST00000358392.2	-	4	829	c.512T>A	c.(511-513)gTg>gAg	p.V171E	COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000370096.3_Missense_Mutation_p.V171E|COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	171	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTTCTCCACGCTGATTGC	0.383000													25	40					0	0	1	0	0
PCDHB6	0	broad.mit.edu	37	5	140531920	140531920	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140531920G>A	ENST00000231136.1	+	1	2082	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	PCDHB6_ENST00000543635.1_Silent_p.S558S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		694					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.692000													77	123					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113639666	113639666	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:113639666G>C	ENST00000200135.3	-	2	273	c.129C>G	c.(127-129)agC>agG	p.S43R		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	43	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGTACTTCTTGCTAATCATAT	0.393000													35	59					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042107	100042107	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:100042107A>G	ENST00000324341.1	+	1	577	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	52										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GACTTTATCCAGATCAGCAAA	0.507000													31	64					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	24					0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119624850	119624850	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:119624850C>A	ENST00000281938.2	+	2	1059	c.388C>A	c.(388-390)Caa>Aaa	p.Q130K	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	130					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGAAACAGCAAGAAGGTGG	0.493000													4	50					0.00024832	0.000267422	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184522	130184522	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:130184522G>A	ENST00000422113.2	-	2	1127	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	267						integral to membrane		p.I267I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGATGCTCCCGATCCTCTGCA	0.572000													13	38					0	0	1	0	0
ORMDL1	94101	broad.mit.edu	37	2	190636618	190636618	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:190636618C>T	ENST00000325795.3	-	3	1123	c.337G>A	c.(337-339)Gca>Aca	p.A113T	ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	113					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			TAGAAACTTGCCAGAAAATAT	0.328000													3	39					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957899	57957899	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:57957899G>A	ENST00000455537.2	+	4	574	c.300G>A	c.(298-300)ctG>ctA	p.L100L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	100	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGGGAAAGCTGCACGACCCTC	0.498000													18	31					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	429					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235405	3235405	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:3235405G>C	ENST00000217939.6	-	6	6471	c.6317C>G	c.(6316-6318)aCg>aGg	p.T2106R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2106	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGTAGAGCGTCCCGTTGGG	0.677000													10	2					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196742335	196742335	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr3:196742335C>T	ENST00000296350.5	-	9	1247	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	378	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGTCTCCACACTTCTGGATCT	0.657000													6	6					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124576	76124576	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr6:76124576T>G	ENST00000393004.2	-	2	334	c.113A>C	c.(112-114)aAg>aCg	p.K38T	FILIP1_ENST00000237172.7_Missense_Mutation_p.K38T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	38	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCTTCTTCTTTTTTGCATC	0.428000													80	92					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104314097	104314097	+	Silent	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:104314097A>G	ENST00000389120.3	+	11	1494	c.1404A>G	c.(1402-1404)caA>caG	p.Q468Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	468					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAATGAACAAGCAGGTATAA	0.433000													31	44					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192080	152192080	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:152192080G>A	ENST00000368801.2	-	3	2100	c.2025C>T	c.(2023-2025)taC>taT	p.Y675Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	675					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGTAGCTGGAAG	0.592000													4	222					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	13					0.150653	0.153393	1	1	0
MGAM	8972	broad.mit.edu	37	7	141765590	141765590	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr7:141765590T>C	ENST00000475668.2	+	40	4783	c.4729T>C	c.(4729-4731)Ttt>Ctt	p.F1577L	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1577	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGGGGGCCTTTTACCCCTT	0.478000													3	24					0	0	1	0	0
PCDHB18	0	broad.mit.edu	37	5	140615769	140615769	+	RNA	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140615769G>A	ENST00000526308.1	+	0	1832					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTGCTGGTGCGCGTGCTGGTG	0.701000													10	106					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132571230	132571230	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:132571230C>T	ENST00000259339.2	+	4	748	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	230					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TGACTTTTGGCGGGCCGGAAG	0.448000													4	74					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763396	15763396	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr19:15763396G>A	ENST00000221307.7	+	8	984	c.936G>A	c.(934-936)aaG>aaA	p.K312K	CYP4F3_ENST00000586182.1_Silent_p.K312K|CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.K312K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	312					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ATGGGAAGAAGTTGTCCGATG	0.517000													5	119					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777632	152777632	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:152777632C>G	ENST00000368768.1	-	2	373	c.323G>C	c.(322-324)gGg>gCg	p.G108A	LCE1C_ENST00000607093.1_Missense_Mutation_p.G108A	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	108	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACTCCCCCCGCCACAGCA	0.662000													5	48					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242066448	242066448	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:242066448G>A	ENST00000403638.3	-	10	1973	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	PASK_ENST00000405260.1_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	628					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGGGCTGGGGGCCAAGTCC	0.637000													53	44					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592130	119592130	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:119592130C>A	ENST00000267260.4	+	12	1862	c.1474C>A	c.(1474-1476)Cct>Act	p.P492T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	492	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCCTACTCGCCTATGAGAAA	0.672000													6	16					1	1	1	1	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629259	1629259	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:1629259C>T	ENST00000399685.1	-	1	434	c.357G>A	c.(355-357)ggG>ggA	p.G119G		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	119	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AACCGCAGCCCCCCTTGGAGC	0.647000													6	171					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5264971	5264971	+	Splice_Site	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr17:5264971G>C	ENST00000262477.6	+	9	1787		c.e9+1		NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000546142.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000341923.6_Splice_Site	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GCAGAAAGAGGTGAGTTACCT	0.498000													6	9					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180327	90180327	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:90180327C>G	ENST00000370454.4	+	3	2453	c.2198C>G	c.(2197-2199)aCt>aGt	p.T733S	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	733						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAACTTAAAACTCTGAAGATT	0.338000													4	99					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29912007	29912007	+	Missense_Mutation	SNP	G	G	A	rs41553815		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr6:29912007G>A	ENST00000396634.1	+	6	1069	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	HLA-A_ENST00000376802.2_Missense_Mutation_p.R243Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.R243Q|HLA-A_ENST00000376806.5_Missense_Mutation_p.R243Q			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	243	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACCTGGCAGCGGGATGGGGAG	0.632000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	93					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134152276	134152276	+	Silent	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:134152276T>C	ENST00000452510.2	+	19	2751	c.2593T>C	c.(2593-2595)Ttg>Ctg	p.L865L	DDX46_ENST00000354283.4_Silent_p.L865L	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	865					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGAAGAATTTGGGCATCGA	0.373000													36	45					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104330852	104330852	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr8:104330852C>T	ENST00000358755.4	+	3	529	c.212C>T	c.(211-213)cCa>cTa	p.P71L	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	71	FZ.				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GAATGTTCACCAAACATTGAA	0.308000													43	50					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31382406	31382406	+	Splice_Site	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr16:31382406G>A	ENST00000268296.4	+	15	1833	c.1710_splice	c.e15-1	p.R571_splice	ITGAX_ENST00000562522.1_Splice_Site_p.R571_splice	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	571					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTGGCCAGCGGATCGCGGGC	0.562000													4	117					0	0	1	0	0
C9orf37	85026	broad.mit.edu	37	9	140510297	140510297	+	Missense_Mutation	SNP	C	C	T	rs111459138		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:140510297C>T	ENST00000371417.3	-	3	895	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	119										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCTGCCCACGTCTCCAAGG	0.657000													22	37					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132322841	132322841	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:132322841G>A	ENST00000360564.1	+	2	363	c.261G>A	c.(259-261)caG>caA	p.Q87Q	MMP17_ENST00000535291.1_Silent_p.Q3Q	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	87					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCATGCAGCAGTTTGGTGGCC	0.677000													8	14					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804625	21804625	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr10:21804625G>A	ENST00000449193.2	-	4	4379	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	SKIDA1_ENST00000444772.3_Silent_p.C630C	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		CATTGCACTCGCACTTTAGCT	0.393000													4	195					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671824	44671824	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:44671824G>A	ENST00000454036.1	+	9	1244	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.V367M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	390					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCAAGGGCGTGATTGTGGA	0.582000													77	105					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34144132	34144132	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:34144132G>A	ENST00000257829.3	+	9	1113	c.907G>A	c.(907-909)Gca>Aca	p.A303T	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.A231T	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	303						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGGGCGGTGGCATTTGGGTA	0.572000													3	58					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254287	155254287	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr4:155254287C>T	ENST00000357232.3	-	9	1575	c.1576G>A	c.(1576-1578)Gtc>Atc	p.V526I	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	526	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGCAAAGACGCCTGGCTGC	0.677000													17	29					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457165	20457165	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr22:20457165C>G	ENST00000426804.1	-	1	4621	c.4137G>C	c.(4135-4137)ttG>ttC	p.L1379F		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCTCCTCCTTCAAAACGTTAT	0.587000													4	50					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14883152	14883152	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:14883152C>A	ENST00000398334.1	-	3	748	c.481G>T	c.(481-483)Gtt>Ttt	p.V161F	FANCB_ENST00000324138.3_Missense_Mutation_p.V161F	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	161					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GACACACTAACAACTTTGCCA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	8					6.53348e-20	7.17401e-20	1	1	0
EXOSC10	5394	broad.mit.edu	37	1	11155880	11155881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:11155880_11155881insT	ENST00000544779.1	-	3	311_312	c.306_307insA	c.(304-309)aatgacfs	p.ND102fs	EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.ND102fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.ND102fs			Q01780	EXOSX_HUMAN	exosome component 10	102					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGCTCAGTCACTTTACTTCGAT	0.381													74	127	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTAGATTGTTATTTCGTTTTT	0.416													2	4	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr7:114271580_114271582delCAG	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													4	6	---	---	---	---					
OR4P4	81300	broad.mit.edu	37	11	55405837	55405838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:55405837_55405838insA	ENST00000314612.2	+	1	4_5	c.4_5insA	c.(4-6)aaafs	p.K2fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTGGACCATGGAAAAAAGCAAT	0.302													61	28	---	---	---	---					
FAM83C	128876	broad.mit.edu	37	20	33880057	33880058	+	Frame_Shift_Ins	INS	-	-	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:33880057_33880058insC	ENST00000374408.3	-	1	146_147	c.50_51insG	c.(49-51)gccfs	p.A17fs		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	17										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCGCAGGGGTCCCGCCATGCC	0.767													2	4	---	---	---	---