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
SLC22A9	114571	broad.mit.edu	37	11	63177310	63177310	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:63177310G>A	ENST00000279178.3	+	10	1887	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	546					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAGAGGATCCGAGAGTGGAAG	0.413000													10	25					0	0	0.000978159	0	0
CHERP	10523	broad.mit.edu	37	19	16630054	16630054	+	Silent	SNP	A	A	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:16630054A>T	ENST00000546361.2	-	17	2818	c.2667T>A	c.(2665-2667)gcT>gcA	p.A889A	CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000198939.6_Silent_p.A900A|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	889	G-patch.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGTCATCCAGAGCCACGCCCA	0.622000													26	27					0	0	0.00106085	0	0
KIAA2026	158358	broad.mit.edu	37	9	5922527	5922527	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:5922527G>T	ENST00000399933.3	-	8	3468	c.3469C>A	c.(3469-3471)Cca>Aca	p.P1157T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1127T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1157										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACAGTTCCTGGTGAGTTGACA	0.378000													18	61					3.32936e-07	2.74138e-06	0.00074312	1	0
SIDT1	54847	broad.mit.edu	37	3	113286510	113286510	+	Silent	SNP	T	T	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:113286510T>G	ENST00000264852.4	+	3	1194	c.468T>G	c.(466-468)ggT>ggG	p.G156G	SIDT1_ENST00000393830.3_Silent_p.G156G	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CACCCCTGGGTGCTCAGTACA	0.512000													33	95					0	0	0.000692331	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536174	38536174	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr22:38536174G>A	ENST00000332509.3	-	5	795	c.612C>T	c.(610-612)ctC>ctT	p.L204L	PLA2G6_ENST00000335539.3_Silent_p.L204L|PLA2G6_ENST00000402064.1_Silent_p.L204L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	204					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TCCTTCCAAGGAGCTGATGAA	0.572000													16	31					0	0	0.000958276	0	0
LCE1C	353133	broad.mit.edu	37	1	152777800	152777800	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:152777800C>T	ENST00000368768.1	-	2	205	c.155G>A	c.(154-156)tGt>tAt	p.C52Y	LCE1C_ENST00000607093.1_Missense_Mutation_p.C52Y	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	52	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)			GCTGGAGCCACAGCAGCCTCC	0.657000													20	50					0	0	0.00188189	0	0
GLIS1	148979	broad.mit.edu	37	1	54059973	54059973	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:54059973G>C	ENST00000312233.2	-	3	1169	c.603C>G	c.(601-603)gaC>gaG	p.D201E		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	201					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTGCACAGCAGTCCACCCAGC	0.682000													6	19					0	0	0.000157383	0	0
NRK	203447	broad.mit.edu	37	X	105142685	105142685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:105142685C>T	ENST00000428173.2	+	8	992	c.689C>T	c.(688-690)cCa>cTa	p.P230L	NRK_ENST00000243300.9_Missense_Mutation_p.P230L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	230	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GATGAGGACCCAAGACGCTCC	0.408000										HNSCC(51;0.14)			7	2					0	0	8.12818e-05	0	0
HCLS1	3059	broad.mit.edu	37	3	121363722	121363722	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:121363722C>T	ENST00000314583.3	-	5	433	c.342G>A	c.(340-342)acG>acA	p.T114T	HCLS1_ENST00000428394.2_Silent_p.T114T	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	114					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TGGCAGCATCCGTCTGAGAAG	0.517000													30	53					0	0	0.00058488	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140725	143140725	+	Silent	SNP	T	T	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:143140725T>G	ENST00000332690.1	+	1	180	c.180T>G	c.(178-180)gtT>gtG	p.V60V	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	60					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AGTTATTGGTTAGCCTAGGGG	0.507000													38	53					0	0	0.00170553	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284707	130284707	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:130284707G>A	ENST00000257359.6	-	5	1991	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	429	Peptidase M12B.			YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCCGCAGCAGGGGCATCCAGG	0.642000													7	16					0	0	0.000157383	0	0
KCNH5	27133	broad.mit.edu	37	14	63316439	63316439	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:63316439G>A	ENST00000322893.7	-	8	1769	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	KCNH5_ENST00000420622.2_Missense_Mutation_p.L501F|KCNH5_ENST00000394968.1_Missense_Mutation_p.L443F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	501					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCTCACTAAGGCCTTTTGGG	0.378000													24	52					0	0	0.00047179	0	0
ARID2	196528	broad.mit.edu	37	12	46123826	46123826	+	Splice_Site	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:46123826G>A	ENST00000334344.6	+	2	264		c.e2-1		ARID2_ENST00000422737.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTCTCCCGCAGGTCGCCTTTT	0.657000			"""N, S, F"""		hepatocellular carcinoma								10	6					0	0	0.000673444	0	0
CXorf22	170063	broad.mit.edu	37	X	35993478	35993478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:35993478G>A	ENST00000297866.5	+	14	2535	c.2469G>A	c.(2467-2469)tgG>tgA	p.W823*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	823										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAAAATTTTGGAAGTAGGGAT	0.294000													14	9					0	0	0.00185496	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450450	105450450	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:105450450G>A	ENST00000337685.2	+	5	1810	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.R342K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.R342K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	342										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATTTTCAGAGACTGGATTTT	0.413000													3	7					0	0	6.4e-05	0	0
NISCH	11188	broad.mit.edu	37	3	52526404	52526404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:52526404C>T	ENST00000345716.4	+	21	4555	c.4421C>T	c.(4420-4422)cCc>cTc	p.P1474L	NISCH_ENST00000479054.1_Missense_Mutation_p.P1474L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1474					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GTGTTTGTCCCCAGTGCTGAG	0.652000													33	68					0	0	0.000409698	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229045	8229045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:8229045C>T	ENST00000539824.1	+	12	1770	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.R542C			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	542							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGACTGGGCGCCTGGCACA	0.687000													4	9					0	0	0.00024832	0	0
CERCAM	51148	broad.mit.edu	37	9	131186760	131186760	+	Silent	SNP	C	C	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:131186760C>A	ENST00000372842.1	+	6	3543	c.399C>A	c.(397-399)ccC>ccA	p.P133P	CERCAM_ENST00000372838.4_Silent_p.P211P			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	211					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCCGTGTCCCCATGGTCCACT	0.617000													17	46					1.02788e-11	8.50254e-11	0.000566183	1	0
MMP27	64066	broad.mit.edu	37	11	102575479	102575479	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:102575479C>T	ENST00000260229.4	-	2	221	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	44					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCTTCTATTTCAAGAGAGTAG	0.373000													6	19					0	0	0.00116845	0	0
FAM50B	26240	broad.mit.edu	37	6	3850386	3850386	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:3850386A>G	ENST00000380274.1	+	1	767	c.341A>G	c.(340-342)aAg>aGg	p.K114R	FAM50B_ENST00000380272.3_Missense_Mutation_p.K114R			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	114						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)				cGCGAGCGCAAGCGTAAGATC	0.701000													3	23					0	0	0.00024832	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368473	18368473	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:18368473G>A	ENST00000392413.3	-	4	3836	c.3621C>T	c.(3619-3621)ttC>ttT	p.F1207F	KIAA1683_ENST00000600359.2_Silent_p.F974F|KIAA1683_ENST00000600328.2_Silent_p.F1020F	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCCATCCTGGAACCAGCTTC	0.667000													30	22					0	0	0.000409698	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301455	92301455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:92301455G>A	ENST00000276609.3	+	3	524	c.285G>A	c.(283-285)atG>atA	p.M95I	SLC26A7_ENST00000523719.1_Missense_Mutation_p.M95I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.M95I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	95						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTTGGAATGGGACATCATG	0.388000													43	107					0	0	0.000781405	0	0
COL6A2	1292	broad.mit.edu	37	21	47548826	47548826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:47548826G>A	ENST00000310645.5	+	28	2553	c.2471G>A	c.(2470-2472)gGa>gAa	p.G824E	COL6A2_ENST00000357838.4_Intron|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Intron|COL6A2_ENST00000409416.1_Missense_Mutation_p.G824E	NM_058175.2	NP_478055.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	824	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ggtttggacggagctgttttg	0.642000													29	52					0	0	0.00058488	0	0
ZNF233	353355	broad.mit.edu	37	19	44778746	44778746	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:44778746G>A	ENST00000391958.2	+	5	2060	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.E627K	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCATACTGGAGAGAAACCATA	0.428000													11	19					0	0	0.000978159	0	0
OR11A1	26531	broad.mit.edu	37	6	29395290	29395290	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:29395290C>T	ENST00000377149.1	-	5	601	c.129G>A	c.(127-129)ggG>ggA	p.G43G	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.G43G|OR11A1_ENST00000377147.2_Silent_p.G43G			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TCAGCATATTCCCTATGATGA	0.403000													16	39					0	0	0.000422831	0	0
PTK6	5753	broad.mit.edu	37	20	62161433	62161433	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr20:62161433G>A	ENST00000217185.2	-	7	1193	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	PTK6_ENST00000542869.1_Missense_Mutation_p.P288L	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	389	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GACAGTACCTGGGTAGGGCAC	0.637000													7	16					0	0	0.000274275	0	0
IGHE	3497	broad.mit.edu	37	14	106068010	106068010	+	RNA	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:106068010G>A	ENST00000390540.2	-	0	375																											GGCATTGGAGGGAATGTTTTT	0.627000													3	11					0	0	0.000602214	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072749	220072749	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:220072749C>T	ENST00000409594.1	+	4	618	c.423C>T	c.(421-423)acC>acT	p.T141T	ZFAND2B_ENST00000444522.2_Silent_p.T141T|ZFAND2B_ENST00000409097.1_Silent_p.T141T|ZFAND2B_ENST00000409412.1_Silent_p.T141T|ZFAND2B_ENST00000409206.1_Silent_p.T141T|ZFAND2B_ENST00000409319.1_Silent_p.T141T|ZFAND2B_ENST00000409217.1_Silent_p.T141T|ZFAND2B_ENST00000289528.5_Silent_p.T141T|ZFAND2B_ENST00000409336.1_Silent_p.T141T			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	141						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCACCCAACCAGCCGGGCAG	0.512000													25	63					0	0	0.00106085	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300629	103300629	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:103300629G>A	ENST00000233969.2	+	5	1401	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	420						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						AATAGGTTCCGGACCATTCCC	0.453000													25	59					0	0	0.000878237	0	0
GPR116	221395	broad.mit.edu	37	6	46826199	46826199	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:46826199C>T	ENST00000283296.7	-	17	3729	c.3441G>A	c.(3439-3441)ctG>ctA	p.L1147L	GPR116_ENST00000265417.7_Silent_p.L1147L|GPR116_ENST00000362015.4_Silent_p.L1147L|GPR116_ENST00000456426.2_Silent_p.L1005L|GPR116_ENST00000545669.1_Silent_p.L576L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1147					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGTGGCTCCCAGCGTGATGA	0.562000													17	27					0	0	0.000422831	0	0
PRMT1	3276	broad.mit.edu	37	19	50189399	50189399	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:50189399C>G	ENST00000532489.1	+	9	1177	c.671C>G	c.(670-672)cCg>cGg	p.P224R	PRMT1_ENST00000391851.4_Missense_Mutation_p.P252R|PRMT1_ENST00000454376.2_Missense_Mutation_p.P270R			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	251						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCACCTCCCCGTTCTGCCTG	0.592000													11	17					0	0	0.000219431	0	0
DACH1	1602	broad.mit.edu	37	13	72063185	72063185	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:72063185G>A	ENST00000305425.4	-	7	2094	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	DACH1_ENST00000313174.7_Missense_Mutation_p.P410S|DACH1_ENST00000354591.4_Missense_Mutation_p.P356S|DACH1_ENST00000359684.2_Missense_Mutation_p.P610S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	608					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AACAGAAAAGGAGATGGAAAA	0.478000													49	117					0	0	0.000781405	0	0
MMRN1	22915	broad.mit.edu	37	4	90856667	90856667	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:90856667G>A	ENST00000394980.1	+	7	2155	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.E612E|MMRN1_ENST00000508372.1_Silent_p.E354E			Q13201	MMRN1_HUMAN	multimerin 1	612					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACACAGAAGAGAATTTACATG	0.338000													28	49					0	0	0.000720815	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709918	70709918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:70709918C>T	ENST00000226444.3	-	7	845	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCATAATTTCGTCTGGCAGT	0.428000													35	89					0	0	0.00111076	0	0
KLK5	25818	broad.mit.edu	37	19	51451995	51451995	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:51451995G>A	ENST00000336334.3	-	5	979	c.627C>T	c.(625-627)atC>atT	p.I209I	KLK5_ENST00000593428.1_Silent_p.I209I|KLK5_ENST00000391809.2_Silent_p.I209I	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	209	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGCACGCTGATATTCAAGC	0.512000													15	15					0	0	0.000308642	0	0
TKTL2	84076	broad.mit.edu	37	4	164394478	164394478	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:164394478C>T	ENST00000280605.3	-	1	569	c.409G>A	c.(409-411)Gct>Act	p.A137T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	137						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGTATAAGCCATTCCACAT	0.537000													22	63					0	0	0.00047179	0	0
MEF2D	4209	broad.mit.edu	37	1	156444933	156444933	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:156444933G>A	ENST00000348159.4	-	9	1453	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	MEF2D_ENST00000360595.3_Missense_Mutation_p.P318S|MEF2D_ENST00000340875.5_Missense_Mutation_p.P324S|MEF2D_ENST00000353795.3_Missense_Mutation_p.P279S|MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000368240.2_Missense_Mutation_p.P318S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	325					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGAGAAGGGGAGGCCCTGG	0.562000													29	54					0	0	0.001512	0	0
EPHA7	2045	broad.mit.edu	37	6	94124440	94124440	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:94124440A>G	ENST00000369303.4	-	2	327	c.143T>C	c.(142-144)aTt>aCt	p.I48T	EPHA7_ENST00000369297.1_Missense_Mutation_p.I48T	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	48						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGGAGAGGAAATCCACTCCAA	0.353000													20	41					0	0	0.000295444	0	0
C6orf118	168090	broad.mit.edu	37	6	165715219	165715219	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:165715219G>A	ENST00000543069.1	-	2	861	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	C6orf118_ENST00000230301.8_Missense_Mutation_p.R198W			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	198										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TAGTGGTGCCGGTCCCTGGTG	0.632000													5	55					0	0	8.12818e-05	0	0
BPTF	2186	broad.mit.edu	37	17	65916199	65916199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:65916199C>T	ENST00000321892.4	+	15	5936	c.5875C>T	c.(5875-5877)Cga>Tga	p.R1959*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1959*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1820*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1833*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1959					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATGGCATTCGATCTGAATA	0.318000													37	89					0	0	0.00111076	0	0
VCAM1	7412	broad.mit.edu	37	1	101190273	101190273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:101190273C>T	ENST00000294728.2	+	4	856	c.755C>T	c.(754-756)cCa>cTa	p.P252L	VCAM1_ENST00000370115.1_Missense_Mutation_p.P252L|VCAM1_ENST00000347652.2_Missense_Mutation_p.P252L|VCAM1_ENST00000370119.4_Missense_Mutation_p.P190L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	252	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGGGTCTACCAGCTCCAGAG	0.433000													19	24					0	0	0.00074312	0	0
CFHR1	3078	broad.mit.edu	37	1	196801077	196801077	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:196801077G>A	ENST00000320493.5	+	6	1029	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	CFHR1_ENST00000367424.3_Missense_Mutation_p.R255Q|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	314	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACACATTGCGAACAACATGT	0.383000													14	41					0	0	0.000422831	0	0
OR5B3	441608	broad.mit.edu	37	11	58170715	58170715	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:58170715G>A	ENST00000309403.2	-	1	167	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAGTACATGGGATTGTGGA	0.413000													21	39					0	0	0.00188189	0	0
SYK	6850	broad.mit.edu	37	9	93650807	93650807	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:93650807G>A	ENST00000375754.4	+	13	1881	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	SYK_ENST00000375751.4_Missense_Mutation_p.G555E|SYK_ENST00000375747.1_Missense_Mutation_p.G555E|SYK_ENST00000375746.1_Missense_Mutation_p.G578E	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	578	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGGATGAAAGGAAGTGAAGTC	0.433000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	11					0	0	8.12818e-05	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838420	31838420	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:31838420G>A	ENST00000544672.1	-	11	1065	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	SLC44A4_ENST00000229729.6_Missense_Mutation_p.R333W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.R291W	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	333						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ATACGAATCCGCTGCCGCAGG	0.622000													19	95					0	0	0.00152264	0	0
RASSF3	283349	broad.mit.edu	37	12	65088621	65088621	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:65088621C>T	ENST00000542104.1	+	5	766	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	RASSF3_ENST00000336061.2_Silent_p.L216L	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	216	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCTGCAGAACCTGAAGAGGCG	0.542000													18	15					0	0	0.000566183	0	0
SREK1	140890	broad.mit.edu	37	5	65473474	65473474	+	Silent	SNP	T	T	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:65473474T>C	ENST00000334121.6	+	11	1872	c.1713T>C	c.(1711-1713)agT>agC	p.S571S	SREK1_ENST00000380918.3_Silent_p.S455S|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	455					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGAAGAACAGTACTTCACTTA	0.408000													34	51					0	0	0.00128727	0	0
PCLO	27445	broad.mit.edu	37	7	82546012	82546012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:82546012G>A	ENST00000423517.2	-	7	11627	c.11290C>T	c.(11290-11292)Cag>Tag	p.Q3764*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3764*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q484*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3695					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTATGTCCTGGAGAATCTTG	0.453000													28	40					0	0	0.00127121	0	0
TTN	7273	broad.mit.edu	37	2	179597628	179597628	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:179597628C>T	ENST00000589042.1	-	55	16499	c.16275G>A	c.(16273-16275)ggG>ggA	p.G5425G	TTN_ENST00000591111.1_Silent_p.G5108G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G4181G|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5108	Ig-like 35.						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)			AAGTGAAATTCCCTGCATCAT	0.453000													7	23					0	0	0.000157383	0	0
LIPI	149998	broad.mit.edu	37	21	15561499	15561499	+	Silent	SNP	G	G	A	rs148528170	byFrequency	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:15561499G>A	ENST00000344577.2	-	2	376	c.351C>T	c.(349-351)ttC>ttT	p.F117F	LIPI_ENST00000536861.1_Silent_p.F96F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	96					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F117F(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAATCCTTACGAAGTTCTGAA	0.368000													22	31					0	0	0.000375601	0	0
FBXO10	26267	broad.mit.edu	37	9	37541670	37541670	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:37541670G>A	ENST00000432825.2	-	2	144	c.96C>T	c.(94-96)gcC>gcT	p.A32A	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	32	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTTCATACCAGGCCCTGCATA	0.627000													8	26					0	0	0.000274275	0	0
IGKV1-12	28940	broad.mit.edu	37	2	89339775	89339775	+	RNA	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:89339775G>A	ENST00000480492.1	-	0	343																											CAGGCTGCAGGCTGCTGATGG	0.502000													56	107					0	0	0.000781405	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:52603882C>T	ENST00000395489.2	-	6	475	c.78_splice	c.e6-1	p.E27_splice	A1CF_ENST00000373995.3_Splice_Site_p.E42_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice|A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000													28	45					0	0	0.000339439	0	0
KCNU1	157855	broad.mit.edu	37	8	36673164	36673164	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:36673164G>A	ENST00000399881.3	+	9	991	c.954G>A	c.(952-954)aaG>aaA	p.K318K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	318						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGCTAACAAGAGGAAATACA	0.299000													24	22					0	0	0.000878237	0	0
NFE2	4778	broad.mit.edu	37	12	54686799	54686799	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:54686799C>T	ENST00000540264.2	-	2	990	c.481G>A	c.(481-483)Gag>Aag	p.E161K	NFE2_ENST00000312156.4_Missense_Mutation_p.E161K|NFE2_ENST00000553070.1_Missense_Mutation_p.E161K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.E161K			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	161	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCTGTCCCCTCCAGCTCAAGA	0.562000													31	38					0	0	0.00178596	0	0
RP1	6101	broad.mit.edu	37	8	55538676	55538676	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:55538676C>T	ENST00000220676.1	+	4	2382	c.2234C>T	c.(2233-2235)tCc>tTc	p.S745F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	745					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTTTTGTTCCAAAAGTAAT	0.323000													15	35					0	0	0.000308642	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			39	97					0	0	0.00128727	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929254	45929254	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:45929254C>T	ENST00000323084.4	-	10	1647	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.D460N	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	528					cell adhesion	extracellular region	structural molecule activity	p.D528N(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACCTCCCAGTCTGCAGCACCG	0.602000													6	13					0	0	0.000157383	0	0
CLVS1	157807	broad.mit.edu	37	8	62289219	62289219	+	Missense_Mutation	SNP	G	G	A	rs143211270	by1000genomes	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:62289219G>A	ENST00000519846.1	+	4	983	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.E171K			Q8IUQ0	CLVS1_HUMAN	clavesin 1	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E171K(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTCCTAATCGAAGATCCGGA	0.438000													42	55					0	0	0.000781405	0	0
C2CD3	26005	broad.mit.edu	37	11	73814461	73814461	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:73814461G>A	ENST00000334126.7	-	14	2521	c.2295C>T	c.(2293-2295)ctC>ctT	p.L765L	C2CD3_ENST00000313663.7_Silent_p.L765L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	765						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTCGGTTGGGGAGCACCAAGT	0.438000													12	39					0	0	0.00185496	0	0
HCLS1	3059	broad.mit.edu	37	3	121363721	121363721	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:121363721C>G	ENST00000314583.3	-	5	434	c.343G>C	c.(343-345)Gat>Cat	p.D115H	HCLS1_ENST00000428394.2_Missense_Mutation_p.D115H	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	115					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTGGCAGCATCCGTCTGAGAA	0.517000													31	55					0	0	0.000814825	0	0
KIAA2026	158358	broad.mit.edu	37	9	5922526	5922526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:5922526G>A	ENST00000399933.3	-	8	3469	c.3470C>T	c.(3469-3471)cCa>cTa	p.P1157L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1127L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1157										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACAGTTCCTGGTGAGTTGAC	0.378000													18	61					0	0	0.00074312	0	0
PRSS16	10279	broad.mit.edu	37	6	27216928	27216928	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:27216928G>A	ENST00000230582.3	+	4	402	c.387G>A	c.(385-387)ctG>ctA	p.L129L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	129					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGATAAGCCTGGAACACAGAT	0.597000													27	50					0	0	0.00106085	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670356	7670356	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:7670356C>T	ENST00000446248.2	+	2	494	c.393C>T	c.(391-393)ccC>ccT	p.P131P	CAMSAP3_ENST00000160298.4_Silent_p.P131P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	131					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGCACCAGCCCATTCTCATGG	0.687000													12	7					0	0	0.000978159	0	0
ALOX5	240	broad.mit.edu	37	10	45878120	45878120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:45878120G>A	ENST00000374391.2	+	2	393	c.340G>A	c.(340-342)Gat>Aat	p.D114N	ALOX5_ENST00000542434.1_Missense_Mutation_p.D114N	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	114	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGTCCTGAGGGATGGACGCGG	0.582000													4	13					0	0	0.00024832	0	0
CSMD2	114784	broad.mit.edu	37	1	34180213	34180213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:34180213C>T	ENST00000373381.4	-	21	3556	c.3380G>A	c.(3379-3381)tGg>tAg	p.W1127*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1087	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCGAGCTCCACAGGCGCCG	0.592000													54	139					0	0	0.000781405	0	0
PCDH18	54510	broad.mit.edu	37	4	138442323	138442323	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:138442323C>T	ENST00000344876.4	-	4	3654	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	PCDH18_ENST00000507846.1_Missense_Mutation_p.E869K|PCDH18_ENST00000511115.1_Missense_Mutation_p.E270K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E1089K|PCDH18_ENST00000510305.1_Missense_Mutation_p.E301K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1090	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGGATCTCCTCCATGGCTGGC	0.502000													15	24					0	0	0.000219431	0	0
COL14A1	7373	broad.mit.edu	37	8	121357691	121357691	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:121357691C>T	ENST00000297848.3	+	45	5236	c.4966C>T	c.(4966-4968)Cct>Tct	p.P1656S	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1561S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1656S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1656	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAAGGGCCTCCTGGGGAGCC	0.622000													19	57					0	0	0.00121646	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518841	106518841	+	RNA	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:106518841G>A	ENST00000390598.2	-	0	91																											ACCCAGCTCAGCCCCAATTCC	0.488000													59	123					0	0	0.000781405	0	0
NRG1	3084	broad.mit.edu	37	8	32453417	32453417	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:32453417G>A	ENST00000341377.5	+	2	689	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	NRG1_ENST00000521670.1_Missense_Mutation_p.E58K|NRG1_ENST00000287840.5_Missense_Mutation_p.E58K|NRG1_ENST00000338921.4_Missense_Mutation_p.E58K|NRG1_ENST00000405005.2_Missense_Mutation_p.E58K|NRG1_ENST00000519301.1_Missense_Mutation_p.E37K|NRG1_ENST00000520407.1_Missense_Mutation_p.E273K|NRG1_ENST00000356819.4_Missense_Mutation_p.E58K|NRG1_ENST00000523079.1_Missense_Mutation_p.E58K|NRG1_ENST00000287845.5_Missense_Mutation_p.E58K|NRG1_ENST00000287842.3_Missense_Mutation_p.E58K			Q02297	NRG1_HUMAN	neuregulin 1	58	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTTCGGTGTGAAACCAGTTC	0.383000													51	41					0	0	0.000781405	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284706	130284706	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:130284706G>A	ENST00000257359.6	-	5	1992	c.1286C>T	c.(1285-1287)cCt>cTt	p.P429L		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	429	Peptidase M12B.			YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGCCGCAGCAGGGGCATCCAG	0.642000													8	16					0	0	0.000274275	0	0
RPTOR	57521	broad.mit.edu	37	17	78599568	78599568	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:78599568C>T	ENST00000306801.3	+	2	602	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RPTOR_ENST00000570891.1_Silent_p.P80P|RPTOR_ENST00000544334.2_Silent_p.P80P|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	80					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGACCACGCCCTGTGCACGCT	0.567000													39	48					0	0	0.000589545	0	0
TULP4	56995	broad.mit.edu	37	6	158923932	158923932	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:158923932C>T	ENST00000367097.3	+	13	4594	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1079					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCGCCCGCGACCGCACCGACT	0.687000													15	49					0	0	0.00074312	0	0
DNAH9	1770	broad.mit.edu	37	17	11790183	11790183	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:11790183C>T	ENST00000262442.3	+	57	11081	c.11013C>T	c.(11011-11013)gcC>gcT	p.A3671A	DNAH9_ENST00000454412.2_Silent_p.A3671A|DNAH9_ENST00000396001.2_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3671					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAACGAGGCCCGAGAGCACT	0.522000													15	20					0	0	0.000422831	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962005	1962005	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:1962005G>A	ENST00000454677.2	-	2	731	c.666C>T	c.(664-666)cgC>cgT	p.R222R	HS3ST6_ENST00000293937.3_Silent_p.R205R|HS3ST6_ENST00000443547.1_Silent_p.R174R			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	174										endometrium(2)|lung(2)	4						AGGCCAGGGCGCGGAAGCTGG	0.711000													8	4					0	0	0.000274275	0	0
RPRD2	23248	broad.mit.edu	37	1	150429989	150429989	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:150429989C>T	ENST00000401000.4	+	7	1083	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	RPRD2_ENST00000369068.4_Missense_Mutation_p.R366C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.R340C			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	366							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GACAGATAATCGTGATGTGGA	0.428000													59	148					0	0	0.000781405	0	0
ARID2	196528	broad.mit.edu	37	12	46123827	46123827	+	Splice_Site	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:46123827G>A	ENST00000334344.6	+	2	265	c.92_splice	c.e2-1	p.G31_splice	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	31	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCCCGCAGGTCGCCTTTTA	0.657000			"""N, S, F"""		hepatocellular carcinoma								10	6					0	0	0.000673444	0	0
ATP11A	23250	broad.mit.edu	37	13	113485797	113485797	+	Missense_Mutation	SNP	G	G	A	rs141227366	byFrequency	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:113485797G>A	ENST00000487903.1	+	13	1418	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	ATP11A_ENST00000375645.3_Missense_Mutation_p.G444R|ATP11A_ENST00000283558.8_Missense_Mutation_p.G444R|ATP11A_ENST00000375630.2_Missense_Mutation_p.G444R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	444					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CATCTGCAACGGGCAGGTCCT	0.587000													16	23					0	0	0.000958276	0	0
ZNF384	171017	broad.mit.edu	37	12	6781567	6781567	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:6781567G>A	ENST00000396801.3	-	8	1250	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	ZNF384_ENST00000361959.3_Missense_Mutation_p.S348F|ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000319770.3_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CTGGCAGTAGGAACAGTTGTA	0.652000			T	"""EWSR1, TAF15 """	ALL								15	32					0	0	0.000308642	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558309	113558309	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:113558309G>A	ENST00000284601.3	-	1	811	c.743C>T	c.(742-744)cCt>cTt	p.P248L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	248					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTCTGTTAGGAACTTCTTT	0.303000													80	122					0	0	0.000781405	0	0
PARP4	143	broad.mit.edu	37	13	25008631	25008631	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:25008631G>A	ENST00000381989.3	-	31	4753	c.4648C>T	c.(4648-4650)Ctg>Ttg	p.L1550L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1550				L -> P (in Ref. 1; AAD47250, 2; AAC62491 and 3; BAA11494).	cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGAAAGCACAGGATACTGTCA	0.403000													17	45					0	0	0.000422831	0	0
ACP2	53	broad.mit.edu	37	11	47264422	47264422	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:47264422C>T	ENST00000256997.3	-	10	1106	c.990G>A	c.(988-990)cgG>cgA	p.R330R	ACP2_ENST00000533929.1_Silent_p.R302R|ACP2_ENST00000537863.1_Silent_p.R143R|ACP2_ENST00000529444.1_Silent_p.R267R|ACP2_ENST00000527256.1_Silent_p.R298R|ACP2_ENST00000525230.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	330						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CACTCTCGTTCCGAAAGTACA	0.642000													9	19					0	0	0.000673444	0	0
BRD1	23774	broad.mit.edu	37	22	50187931	50187931	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr22:50187931G>A	ENST00000216267.8	-	6	2596	c.2110C>T	c.(2110-2112)Ctg>Ttg	p.L704L	BRD1_ENST00000404034.1_Silent_p.L704L|BRD1_ENST00000542442.1_Silent_p.L392L|BRD1_ENST00000457780.2_Silent_p.L704L|BRD1_ENST00000404760.1_Silent_p.L704L|BRD1_ENST00000342989.5_Silent_p.L299L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	704					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGGGGTCCAGCAACCTGTCC	0.602000													37	51					0	0	0.000680045	0	0
ZNF208	7757	broad.mit.edu	37	19	22155201	22155201	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:22155201G>A	ENST00000397126.4	-	4	2783	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGATAACTAAGG	0.363000													30	25					0	0	0.00178596	0	0
BPGM	669	broad.mit.edu	37	7	134363713	134363713	+	Missense_Mutation	SNP	A	A	G	rs11769006		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:134363713A>G	ENST00000393132.2	+	4	1199	c.710A>G	c.(709-711)gAc>gGc	p.D237G	BPGM_ENST00000418040.1_Missense_Mutation_p.D237G|BPGM_ENST00000344924.3_Missense_Mutation_p.D237G	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	237					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						TTCCTGGGTGACCAAGAGGCG	0.428000													71	175					0	0	0.000781405	0	0
POLI	11201	broad.mit.edu	37	18	51810329	51810329	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:51810329C>T	ENST00000579534.1	+	7	1156	c.1013C>T	c.(1012-1014)tCt>tTt	p.S338F	POLI_ENST00000406285.3_Missense_Mutation_p.S259F|POLI_ENST00000579434.1_Missense_Mutation_p.S235F|POLI_ENST00000217800.5_Missense_Mutation_p.S212F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	338					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAATGTTCATCTGAAGTTGAA	0.284000								DNA polymerases (catalytic subunits)					7	15					0	0	0.000157383	0	0
CCDC172	374355	broad.mit.edu	37	10	118084575	118084575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:118084575G>A	ENST00000333254.3	+	2	303	c.52G>A	c.(52-54)Gag>Aag	p.E18K	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		GCATCAGGCGGAGGAGAGTCG	0.517000													12	33					0	0	0.000422831	0	0
P2RY10	27334	broad.mit.edu	37	X	78216875	78216875	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:78216875C>T	ENST00000171757.2	+	4	1138	c.858C>T	c.(856-858)ttC>ttT	p.F286F	P2RY10_ENST00000544091.1_Silent_p.F286F	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	286						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CACTGTATTTCCACCCTTTTT	0.423000													83	39					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179467243	179467243	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:179467243G>A	ENST00000589042.1	-	283	55110	c.54886C>T	c.(54886-54888)Cca>Tca	p.P18296S	TTN_ENST00000591111.1_Missense_Mutation_p.P16655S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9423S|TTN_ENST00000342992.6_Missense_Mutation_p.P15728S|TTN_ENST00000460472.2_Missense_Mutation_p.P9231S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9356S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16655	Fibronectin type-III 32.						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)			TCTTTGGCTGGAGGTTTCCAT	0.403000													6	13					0	0	8.12818e-05	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443553	5443553	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:5443553C>T	ENST00000300778.4	+	1	213	c.123C>T	c.(121-123)atC>atT	p.I41I	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCTCCATCATGGGCAATA	0.547000													37	110					0	0	0.00111076	0	0
XDH	7498	broad.mit.edu	37	2	31606641	31606641	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:31606641G>A	ENST00000379416.3	-	10	914	c.866C>T	c.(865-867)tCg>tTg	p.S289L	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	289	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATGTTCTACCGAATTCAGCTC	0.502000													14	23					0	0	0.000308642	0	0
FAM214A	56204	broad.mit.edu	37	15	52970206	52970206	+	Silent	SNP	G	G	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:52970206G>T	ENST00000261844.7	-	2	165	c.13C>A	c.(13-15)Cga>Aga	p.R5R	FAM214A_ENST00000562351.1_5'UTR	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	5																	CATTTACCTCGGTCTGGCTTC	0.453000													25	51					6.38683e-12	5.30758e-11	0.001512	1	0
DNAH9	1770	broad.mit.edu	37	17	11711084	11711084	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:11711084G>A	ENST00000262442.3	+	44	8524	c.8456G>A	c.(8455-8457)gGa>gAa	p.G2819E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2819E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2819	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCGCGGGGAAATGCTCTG	0.522000													5	57					0	0	8.12818e-05	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54596844	54596844	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:54596844G>A	ENST00000474759.1	+	6	610	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G188R|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G188R|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G94R	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	188						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AATTGTCAATGGGGTTTATTG	0.408000													8	17					0	0	0.000157383	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215763	20215763	+	Silent	SNP	T	T	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:20215763T>G	ENST00000331723.1	+	1	177	c.177T>G	c.(175-177)ccT>ccG	p.P59P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCAATCTCCTATGTATTATT	0.413000													31	183					0	0	0.000491102	0	0
POLI	11201	broad.mit.edu	37	18	51810326	51810326	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:51810326C>T	ENST00000579534.1	+	7	1153	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	POLI_ENST00000406285.3_Missense_Mutation_p.S258L|POLI_ENST00000579434.1_Missense_Mutation_p.S234L|POLI_ENST00000217800.5_Missense_Mutation_p.S211L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	337				S -> T (in Ref. 4; CAB66605).	DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAAAAATGTTCATCTGAAGTT	0.284000								DNA polymerases (catalytic subunits)					6	17					0	0	8.12818e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141356370	141356370	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:141356370G>A	ENST00000389484.3	-	43	7995	c.7024C>T	c.(7024-7026)Cca>Tca	p.P2342S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2342					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGATACTTGGATGTTGTTCA	0.338000										TSP Lung(27;0.18)			17	26					0	0	0.000295444	0	0
ITGAE	3682	broad.mit.edu	37	17	3656589	3656589	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:3656589C>T	ENST00000263087.4	-	14	1761	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	555					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCACCTGCTCGCTGAGACGG	0.572000													4	12					0	0	0.00024832	0	0
PDE1C	5137	broad.mit.edu	37	7	31887623	31887623	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:31887623C>A	ENST00000396184.3	-	10	1143	c.939G>T	c.(937-939)gaG>gaT	p.E313D	PDE1C_ENST00000396191.1_Missense_Mutation_p.E313D|PDE1C_ENST00000321453.7_Missense_Mutation_p.E313D|PDE1C_ENST00000396182.2_Missense_Mutation_p.E313D|PDE1C_ENST00000396193.1_Missense_Mutation_p.E373D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	313	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TATTCATTTCCTCGTCATCTT	0.413000													35	64					3.11337e-16	2.61145e-15	0.000491102	1	0
NOMO1	23420	broad.mit.edu	37	16	14973914	14973914	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:14973914C>T	ENST00000287667.7	+	24	2971	c.2800C>T	c.(2800-2802)Cgg>Tgg	p.R934W		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	934						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GAAGGAGTTCCGGTTTGAGCC	0.522000													29	114					0	0	0.00111076	0	0
ABCG1	9619	broad.mit.edu	37	21	43693533	43693533	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:43693533G>A	ENST00000398437.1	+	5	1111	c.963G>A	c.(961-963)caG>caA	p.Q321Q	ABCG1_ENST00000398449.3_Silent_p.Q175Q|ABCG1_ENST00000361802.2_Silent_p.Q175Q|ABCG1_ENST00000340588.4_Silent_p.Q283Q|ABCG1_ENST00000343687.3_Silent_p.Q186Q|ABCG1_ENST00000398457.2_Silent_p.Q177Q|ABCG1_ENST00000347800.2_Silent_p.Q172Q|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	175					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCACTGTGCAGGAGGCCATGA	0.667000													8	17					0	0	0.000157383	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591818	100591818	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:100591818G>A	ENST00000268070.4	-	17	2519	c.2414C>T	c.(2413-2415)aCc>aTc	p.T805I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	805	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCCGCTGTGGGTCCAGATGAA	0.517000													47	110					0	0	0.000781405	0	0
HNF4G	3174	broad.mit.edu	37	8	76452231	76452231	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:76452231G>A	ENST00000396423.2	+	1	128	c.4G>A	c.(4-6)Gac>Aac	p.D2N	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D2Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTGGACATGGACATGGCAAA	0.393000													51	50					0	0	0.000781405	0	0
WDHD1	11169	broad.mit.edu	37	14	55475343	55475343	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:55475343G>A	ENST00000360586.3	-	5	501	c.436C>T	c.(436-438)Cct>Tct	p.P146S	WDHD1_ENST00000421192.1_Missense_Mutation_p.P23S|WDHD1_ENST00000420358.2_Missense_Mutation_p.P23S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	146						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATGTCCTTAGGATCAAAGGAA	0.318000													35	76					0	0	0.00170553	0	0
LPA	4018	broad.mit.edu	37	6	161026196	161026196	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:161026196C>T	ENST00000447678.1	-	19	2947	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	LPA_ENST00000316300.5_Missense_Mutation_p.G943R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3451	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTCCATTTCCGTGGTAGCAC	0.463000													105	250					0	0	0.000781405	0	0
CARD11	84433	broad.mit.edu	37	7	2979560	2979560	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:2979560G>A	ENST00000396946.4	-	6	1090	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	229					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTAGCTGATCGATCTGAAATA	0.498000			Mis		DLBCL								51	54					0	0	0.000781405	0	0
DIP2C	22982	broad.mit.edu	37	10	409183	409183	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:409183T>C	ENST00000280886.6	-	21	2633	c.2546A>G	c.(2545-2547)gAc>gGc	p.D849G	DIP2C_ENST00000540204.1_Missense_Mutation_p.D170G|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	849						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCCGTGGAGTCAGGCCTCTG	0.627000													7	19					0	0	0.000157383	0	0
AHR	196	broad.mit.edu	37	7	17379647	17379647	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:17379647C>T	ENST00000242057.4	+	10	2841	c.2198C>T	c.(2197-2199)tCt>tTt	p.S733F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	733					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCCACTACTTCTAGTTTAGAA	0.393000													35	62					0	0	0.000491102	0	0
C12orf77	196415	broad.mit.edu	37	12	25149189	25149189	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:25149189G>A	ENST00000549828.1	-	2	292	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	30										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGTGGATCCAGAATTTGAATA	0.438000													20	73					0	0	0.00188189	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481317	142481317	+	RNA	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:142481317G>A	ENST00000603901.1	+	0	391					NR_001296.3																						TCTGCCCACTGCCCCTCCAGC	0.547000													11	69					0	0	0.000295444	0	0
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:140972591G>A	ENST00000277549.5	+	36	5126	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1658K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1659K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1659K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1660K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1657K|CACNA1B_ENST00000371365.2_Missense_Mutation_p.E23K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1659					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.E1659*(2)|p.E23*(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCTGGCACGAGATCATGCT	0.607000													10	16					0	0	0.000673444	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449578	85449578	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:85449578G>A	ENST00000393217.2	+	8	1068	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	336	Glu-rich.							p.R336Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		gaagaaaatcgaaaaagatta	0.328000													11	6					0	0	0.000673444	0	0
NLRP1	22861	broad.mit.edu	37	17	5433872	5433872	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:5433872G>A	ENST00000345221.3	-	12	4003	c.3449C>T	c.(3448-3450)cCt>cTt	p.P1150L	NLRP1_ENST00000577119.1_Missense_Mutation_p.P1120L|NLRP1_ENST00000354411.3_Missense_Mutation_p.P1120L|NLRP1_ENST00000572272.1_Missense_Mutation_p.P1150L|NLRP1_ENST00000262467.5_Missense_Mutation_p.P1154L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1150L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1150					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCCAGCAGAGGCCCTGCCAC	0.547000													6	51					0	0	0.00116845	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713242	142713242	+	RNA	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:142713242C>T	ENST00000369381.2	-	0	1363																											TCTGCATTTTCATACATCTCT	0.383000													30	49					0	0	0.001512	0	0
DCLK1	9201	broad.mit.edu	37	13	36396997	36396997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:36396997C>T	ENST00000255448.4	-	11	1634	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	DCLK1_ENST00000379893.1_Missense_Mutation_p.D168N|DCLK1_ENST00000360631.3_Missense_Mutation_p.D475N	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	475	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTAATGGCATCAAAAAGGTCT	0.522000													19	45					0	0	0.00188189	0	0
AKAP11	11215	broad.mit.edu	37	13	42875110	42875110	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:42875110C>T	ENST00000025301.2	+	8	2403	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	743					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTCACGTTTTCCCCTTCTTTT	0.418000													11	40					0	0	0.00185496	0	0
TBCEL	219899	broad.mit.edu	37	11	120957608	120957608	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:120957608C>T	ENST00000422003.2	+	8	1266	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	TBCEL_ENST00000529397.1_Missense_Mutation_p.R360C	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	360	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATGAGCATTCGTCTGGACCA	0.433000													5	16					0	0	0.00116845	0	0
NMBR	4829	broad.mit.edu	37	6	142397026	142397026	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:142397026A>G	ENST00000258042.1	-	3	1072	c.932T>C	c.(931-933)gTt>gCt	p.V311A	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	311					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAAACTGAGAACCCGGGCAAC	0.443000													12	25					0	0	0.00136819	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637000													4	15					0.00024832	0.00203532	0.00024832	1	0
SCAMP5	192683	broad.mit.edu	37	15	75309008	75309008	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:75309008T>G	ENST00000361900.6	+	5	418	c.211T>G	c.(211-213)Ttt>Gtt	p.F71V	SCAMP5_ENST00000425597.3_Missense_Mutation_p.F71V|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000562212.1_Missense_Mutation_p.F71V|SCAMP5_ENST00000545456.1_Intron	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	71					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AGCCACCAACTTTGGCCTCGC	0.597000													19	57					0	0	0.000958276	0	0
DPPA2	151871	broad.mit.edu	37	3	109027921	109027921	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:109027921G>A	ENST00000478945.1	-	5	594	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP.					nucleus	nucleic acid binding	p.I116I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408000													47	98					0	0	0.000781405	0	0
EFHC2	80258	broad.mit.edu	37	X	44109653	44109653	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:44109653G>A	ENST00000420999.1	-	5	728	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	215							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GGGTGTCGAGGGATTCGTAGG	0.438000													18	7					0	0	0.00152264	0	0
RASSF3	283349	broad.mit.edu	37	12	65088620	65088620	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:65088620C>T	ENST00000542104.1	+	5	765	c.645C>T	c.(643-645)aaC>aaT	p.N215N	RASSF3_ENST00000336061.2_Silent_p.N215N	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	215	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AGCTGCAGAACCTGAAGAGGC	0.542000													18	15					0	0	0.000566183	0	0
DNAH7	56171	broad.mit.edu	37	2	196664189	196664189	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:196664189G>A	ENST00000312428.6	-	55	10284	c.10184C>T	c.(10183-10185)cCa>cTa	p.P3395L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3395					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCAACATTGGAATAACCTA	0.353000													32	65					0	0	0.00058488	0	0
USP31	57478	broad.mit.edu	37	16	23080670	23080670	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:23080670G>A	ENST00000219689.7	-	16	2755	c.2756C>T	c.(2755-2757)tCt>tTt	p.S919F	USP31_ENST00000567975.1_Missense_Mutation_p.S212F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	919	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTAACTGCTAGAAAGGTTCCG	0.547000													17	44					0	0	0.00074312	0	0
CFHR4	10877	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:196887394G>A	ENST00000367416.2	+	10	1729	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	CFHR4_ENST00000367418.1_Missense_Mutation_p.G285E|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G285E	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.G285E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTTAAAAGGAAAAAGTGAC	0.279000													21	35					0	0	0.00188189	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													6	78					0	0	0.000157383	0	0
ATAD2	29028	broad.mit.edu	37	8	124349897	124349897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:124349897G>A	ENST00000287394.5	-	21	3126	c.3019C>T	c.(3019-3021)Cga>Tga	p.R1007*	ATAD2_ENST00000521903.1_Nonsense_Mutation_p.R325*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1007	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAAACACTCGGAATCGCTTG	0.358000													19	55					0	0	0.00047179	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143495	143495	+	Splice_Site	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:143495G>A	ENST00000283426.6	+	3	670	c.619_splice	c.e3-1	p.G207_splice		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	207					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCTCCGCAGGGACCCGAGAC	0.632000													34	48					0	0	0.000953801	0	0
DUSP16	80824	broad.mit.edu	37	12	12629826	12629826	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:12629826C>T	ENST00000228862.2	-	7	2570	c.1939G>A	c.(1939-1941)Ggg>Agg	p.G647R	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	647					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCCACTTTCCCCAGCTCTTCC	0.453000													48	134					0	0	0.000781405	0	0
FBXO40	51725	broad.mit.edu	37	3	121340500	121340500	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:121340500C>T	ENST00000338040.4	+	3	638	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	75					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGCCCTCTGTCCATGTCCCGC	0.597000													11	42					0	0	0.000978159	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163623	12163623	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:12163623G>A	ENST00000379388.2	+	9	7418	c.7086G>A	c.(7084-7086)aaG>aaA	p.K2362K	HIVEP1_ENST00000541134.1_Silent_p.K227K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2362					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGAACAGAAGCAGCAAATAA	0.547000													39	84					0	0	0.00111076	0	0
PHKA1	5255	broad.mit.edu	37	X	71870282	71870282	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:71870282G>A	ENST00000373545.3	-	13	1720	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	PHKA1_ENST00000373542.4_Missense_Mutation_p.R428C|PHKA1_ENST00000541944.1_Missense_Mutation_p.R428C|PHKA1_ENST00000373539.3_Missense_Mutation_p.R428C|PHKA1_ENST00000339490.3_Missense_Mutation_p.R428C			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	428					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAAAACCTGCGATTCAGGGGA	0.383000													13	10					0	0	0.000422831	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													6	102					0	0	0.000274275	0	0
CNOT6	57472	broad.mit.edu	37	5	179994990	179994990	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:179994990G>A	ENST00000393356.1	+	11	1438	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	CNOT6_ENST00000261951.4_Silent_p.S338S			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	338					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GGAAGGAATCGATTGAAATGC	0.413000													19	41					0	0	0.000586117	0	0
TEX13A	56157	broad.mit.edu	37	X	104464200	104464200	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:104464200G>A	ENST00000413579.1	-	5	787	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TEX13A_ENST00000372575.1_Silent_p.S226S|TEX13A_ENST00000372578.3_Silent_p.S226S|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	226						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCACGTGGGGGAACTGGGTC	0.612000													12	8					0	0	0.000978159	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680226	67680226	+	Missense_Mutation	SNP	C	C	T	rs138237676		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:67680226C>T	ENST00000433211.1	-	18	2724	c.2550G>A	c.(2548-2550)atG>atA	p.M850I	CTNNA3_ENST00000373735.1_Missense_Mutation_p.M189I|CTNNA3_ENST00000373744.4_Missense_Mutation_p.M850I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	850					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGGAGCCTTCATTCTCCACA	0.478000													44	73					0	0	0.000781405	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													4	19					0	0	0.000602214	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17191054	17191054	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:17191054G>A	ENST00000265970.7	-	1	234	c.235C>T	c.(235-237)Cct>Tct	p.P79S	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	79	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TCTGATTCAGGAAACACCATG	0.393000													37	95					0	0	0.000692331	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209756	30209756	+	RNA	SNP	C	C	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:30209756C>G	ENST00000518096.1	+	0	368																											TCTGTTCGCTCAGGTCCTTTT	0.527000													40	37					0	0	0.00148497	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566726	45566726	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:45566726G>A	ENST00000588982.1	-	3	1254	c.753C>T	c.(751-753)ttC>ttT	p.F251F	ZBTB7C_ENST00000590800.1_Silent_p.F251F|ZBTB7C_ENST00000586438.1_Silent_p.F251F|ZBTB7C_ENST00000535628.2_Silent_p.F251F|ZBTB7C_ENST00000332053.2_Silent_p.F251F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	251						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTCCGGGGCGAATGGAGACA	0.597000													13	20					0	0	0.00185496	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481316	142481316	+	RNA	SNP	T	T	C	rs140068138	by1000genomes	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:142481316T>C	ENST00000603901.1	+	0	390					NR_001296.3																						CTCTGCCCACTGCCCCTCCAG	0.547000													11	69					0	0	0.000295444	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565258	48565258	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:48565258G>C	ENST00000354276.3	-	14	1581	c.1254C>G	c.(1252-1254)ttC>ttG	p.F418L	CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.F418L|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.F428L|CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.F418L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	418	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CGATTACCTCGAAAGGATCTC	0.627000													52	43					0	0	0.000781405	0	0
DNAH6	1768	broad.mit.edu	37	2	84806744	84806744	+	Missense_Mutation	SNP	C	C	T	rs142042706		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:84806744C>T	ENST00000389394.3	+	14	2307	c.2170C>T	c.(2170-2172)Cca>Tca	p.P724S	DNAH6_ENST00000237449.6_Missense_Mutation_p.P724S|DNAH6_ENST00000398278.2_Missense_Mutation_p.P724S	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	724	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGAGTTTGTTCCAACTACTAC	0.343000													15	33					0	0	0.000219431	0	0
SLC2A7	155184	broad.mit.edu	37	1	9074860	9074860	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:9074860C>T	ENST00000400906.1	-	7	782	c.783G>A	c.(781-783)cgG>cgA	p.R261R		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	261			R -> Q (in dbSNP:rs12402973).			integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CGCGCTCGGCCCGGGCCTCCG	0.697000													6	6					0	0	0.000157383	0	0
VAV3	10451	broad.mit.edu	37	1	108315413	108315413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:108315413C>T	ENST00000370056.4	-	5	773	c.499G>A	c.(499-501)Gat>Aat	p.D167N	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.D167N|VAV3_ENST00000371846.4_Missense_Mutation_p.D102N	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	167					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCACCTTCATCTTCCCCATAA	0.358000													30	49					0	0	0.000692331	0	0
IFNAR2	3455	broad.mit.edu	37	21	34617374	34617374	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:34617374C>T	ENST00000404220.3	+	4	545	c.216C>T	c.(214-216)atC>atT	p.I72I	IFNAR2_ENST00000382264.3_Silent_p.I72I|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000342101.3_Silent_p.I72I|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000382241.3_Silent_p.I72I|IFNAR2_ENST00000342136.4_Silent_p.I72I			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	72					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGTATACAATCATGAGGTTGG	0.373000													25	49					0	0	0.001512	0	0
PLXNA4	91584	broad.mit.edu	37	7	131817824	131817824	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:131817824C>T	ENST00000359827.3	-	31	6535	c.5573G>A	c.(5572-5574)gGc>gAc	p.G1858D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1858D			Q9HCM2	PLXA4_HUMAN	plexin A4	1858						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTGTATTTGCCCACATAGGA	0.522000													29	69					0	0	0.000339439	0	0
GRM6	2916	broad.mit.edu	37	5	178409926	178409926	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:178409926G>A	ENST00000231188.5	-	9	2599	c.2421C>T	c.(2419-2421)gcC>gcT	p.A807A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.A807A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	807			A -> V (in dbSNP:rs17078874).		detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGCTGACTGGGCAGTGCCAA	0.547000													17	34					0	0	0.00188189	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488779	20488779	+	RNA	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:20488779G>A	ENST00000555186.1	+	0	262					NR_038836.1																						CAAGATTTTGGGAGAGACCTC	0.413000													10	123					0	0	0.00136819	0	0
MLANA	2315	broad.mit.edu	37	9	5897597	5897597	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:5897597T>G	ENST00000381477.3	+	3	278	c.118T>G	c.(118-120)Tta>Gta	p.L40V	MLANA_ENST00000381476.1_Missense_Mutation_p.L40V|MLANA_ENST00000490518.1_3'UTR|MLANA_ENST00000381471.1_Missense_Mutation_p.L40V	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	40						endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		CCTGGGAGTCTTACTGCTCAT	0.483000													4	113					0	0	0.00116845	0	0
SNAP91	9892	broad.mit.edu	37	6	84269854	84269854	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:84269854G>A	ENST00000428679.2	-	28	3193	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L	SNAP91_ENST00000195649.6_Missense_Mutation_p.P862L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P867L|SNAP91_ENST00000520302.1_Missense_Mutation_p.P837L|SNAP91_ENST00000437520.1_Missense_Mutation_p.P560L|SNAP91_ENST00000439399.2_Missense_Mutation_p.P867L|SNAP91_ENST00000520213.1_Missense_Mutation_p.P560L|SNAP91_ENST00000369694.2_Missense_Mutation_p.P867L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P862L			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	867	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGCTCCAAAGGGGGGCCTCAT	0.517000													20	49					0	0	0.000295444	0	0
PRDM5	11107	broad.mit.edu	37	4	121742401	121742401	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:121742401C>T	ENST00000264808.3	-	4	640	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	PRDM5_ENST00000428209.2_Missense_Mutation_p.E134K|PRDM5_ENST00000515109.1_Missense_Mutation_p.E134K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	134					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTTGCTGTTCTTCCTCCTCA	0.408000													33	91					0	0	0.000491102	0	0
EDIL3	10085	broad.mit.edu	37	5	83362376	83362376	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:83362376G>A	ENST00000296591.5	-	7	1119	c.701C>T	c.(700-702)gCc>gTc	p.A234V	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.A224V	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	234	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AATCCTCTTGGCTCCTTGGGT	0.373000													24	42					0	0	0.000586117	0	0
CSPG4	1464	broad.mit.edu	37	15	75981813	75981813	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:75981813G>A	ENST00000308508.5	-	3	1685	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	531	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGGCATGAGGGCATGGGCA	0.617000													13	16					0	0	0.00136819	0	0
HERC2	8924	broad.mit.edu	37	15	28408339	28408339	+	Silent	SNP	C	C	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:28408339C>A	ENST00000261609.7	-	69	10755	c.10647G>T	c.(10645-10647)gtG>gtT	p.V3549V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3549					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGGTCTACCACCACACGAG	0.597000													23	47					3.5997e-14	3.00533e-13	0.000295444	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	66					0	0	0.000602214	0	0
ARID2	196528	broad.mit.edu	37	12	46215264	46215264	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:46215264C>T	ENST00000334344.6	+	6	871	c.699C>T	c.(697-699)ttC>ttT	p.F233F	ARID2_ENST00000422737.1_Silent_p.F84F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	233					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATAGAGACTTCGTTAAGGTAA	0.284000			"""N, S, F"""		hepatocellular carcinoma								41	36					0	0	0.000781405	0	0
KLHL20	27252	broad.mit.edu	37	1	173703100	173703100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:173703100C>T	ENST00000209884.4	+	3	408	c.272C>T	c.(271-273)cCc>cTc	p.P91L	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCCTGTAGTCCCTACTTCCGA	0.478000													24	48					0	0	0.00047179	0	0
PLAA	9373	broad.mit.edu	37	9	26919485	26919485	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:26919485G>C	ENST00000397292.3	-	9	1657	c.1240C>G	c.(1240-1242)Cca>Gca	p.P414A	PLAA_ENST00000520884.1_Missense_Mutation_p.P414A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	414	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTATATGATGGTCCACCTTCA	0.313000													7	227					0	0	0.000274275	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545930	138545930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:138545930C>T	ENST00000440172.1	-	16	5250	c.5202G>A	c.(5200-5202)tgG>tgA	p.W1734*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.W1684*|KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.W1734*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1734						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAAGGACCCCCACTGGGTGG	0.617000			O	BRAF	pilocytic astrocytoma								34	37					0	0	0.00170553	0	0
TRIML1	339976	broad.mit.edu	37	4	189065256	189065256	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:189065256G>A	ENST00000332517.3	+	5	965	c.825G>A	c.(823-825)acG>acA	p.T275T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	275	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.T275T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCGCATCACGGGAATGAAGG	0.527000													11	20					0	0	0.00185496	0	0
DNAH5	1767	broad.mit.edu	37	5	13871029	13871029	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:13871029A>C	ENST00000265104.4	-	24	3785	c.3681T>G	c.(3679-3681)agT>agG	p.S1227R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1227	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCCATCTCACTCCGGTATT	0.408000									Kartagener syndrome				21	69					0	0	0.00188189	0	0
DMBT1	1755	broad.mit.edu	37	10	124395534	124395534	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:124395534T>A	ENST00000368909.3	+	50	6295	c.6189T>A	c.(6187-6189)taT>taA	p.Y2063*	DMBT1_ENST00000368956.2_Nonsense_Mutation_p.Y1435*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.Y2063*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.Y2053*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.Y2053*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.Y783*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.Y1435*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2063	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTATGATTATATTGAAGTTT	0.512000													19	42					0	0	0.00188189	0	0
SORCS3	22986	broad.mit.edu	37	10	107007001	107007001	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:107007001C>T	ENST00000369701.3	+	22	3244	c.3017C>T	c.(3016-3018)tCa>tTa	p.S1006L	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1006						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGCTTTTATCATTCTCTCCT	0.458000													15	22					0	0	0.000566183	0	0
LOC644669	644669	broad.mit.edu	37	18	15316743	15316743	+	RNA	SNP	A	A	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:15316743A>G	ENST00000455308.2	-	0	680					NR_027417.1																						AGCCTCATCAAGTGTTCCTTC	0.428000													3	10					0	0	0.00116845	0	0
DTNA	1837	broad.mit.edu	37	18	32398137	32398137	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:32398137C>T	ENST00000283365.9	+	9	1070	c.719C>T	c.(718-720)cCg>cTg	p.P240L	DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000315456.6_Missense_Mutation_p.P240L|DTNA_ENST00000269190.7_Missense_Mutation_p.P240L|DTNA_ENST00000399121.5_Missense_Mutation_p.P240L|DTNA_ENST00000269191.6_Missense_Mutation_p.P240L|DTNA_ENST00000598774.1_Missense_Mutation_p.P240L|DTNA_ENST00000554864.3_Missense_Mutation_p.P240L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598142.1_Missense_Mutation_p.P240L|DTNA_ENST00000597599.1_Missense_Mutation_p.P240L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000595022.1_Missense_Mutation_p.P240L|DTNA_ENST00000399113.3_Missense_Mutation_p.P240L|DTNA_ENST00000598334.1_Missense_Mutation_p.P240L|DTNA_ENST00000348997.5_Missense_Mutation_p.P240L|DTNA_ENST00000444659.1_Missense_Mutation_p.P240L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	240	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTCTTCCATCCGGTTGAGTGT	0.448000													24	64					0	0	0.000878237	0	0
OR1A1	8383	broad.mit.edu	37	17	3119823	3119823	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:3119823C>T	ENST00000304094.1	+	1	909	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGAAACTCTTCAACAAGAGAA	0.458000													19	46					0	0	0.00121646	0	0
DCTN1	1639	broad.mit.edu	37	2	74594835	74594835	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:74594835G>A	ENST00000361874.3	-	18	2489	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	DCTN1_ENST00000409438.1_Silent_p.I590I|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Silent_p.I707I|DCTN1_ENST00000394003.3_Silent_p.I717I|DCTN1_ENST00000407639.2_Silent_p.I590I|DCTN1_ENST00000409567.3_Silent_p.I704I|DCTN1_ENST00000409240.1_Silent_p.I687I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	724					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GATAGTACTTGATGGCCTTGG	0.498000													13	23					0	0	0.000308642	0	0
GRIP2	80852	broad.mit.edu	37	3	14564565	14564565	+	RNA	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:14564565C>T	ENST00000273083.3	-	0	573							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GACTTGTGCCCATCTTCATGG	0.622000													28	45					0	0	0.000491102	0	0
NUP188	23511	broad.mit.edu	37	9	131761586	131761586	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:131761586G>A	ENST00000372577.2	+	33	3672	c.3651G>A	c.(3649-3651)aaG>aaA	p.K1217K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1217					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCAAATGAAGGAGATGAAAG	0.582000											OREG0003925	type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	32					0	0	0.000602214	0	0
LRRC19	64922	broad.mit.edu	37	9	26995832	26995832	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:26995832C>T	ENST00000380055.5	-	5	910	c.800G>A	c.(799-801)gGa>gAa	p.G267E	IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	267						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CCAACTTTTTCCAAGAGGTTC	0.338000													11	26					0	0	0.000978159	0	0
TLN1	7094	broad.mit.edu	37	9	35714009	35714009	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:35714009G>A	ENST00000314888.9	-	25	3543	c.3190C>T	c.(3190-3192)Cta>Tta	p.L1064L	TLN1_ENST00000540444.1_Silent_p.L1064L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1064					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTTCCTGTAGATCTTTCTCT	0.443000													16	31					0	0	0.00121646	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:66083654C>T	ENST00000349533.6	+	16	2405	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.I740I|LEPR_ENST00000344610.8_Silent_p.I740I|LEPR_ENST00000371059.3_Silent_p.I740I|LEPR_ENST00000371060.3_Silent_p.I740I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000													17	24					0	0	0.000422831	0	0
FASLG	356	broad.mit.edu	37	1	172628641	172628641	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:172628641G>A	ENST00000367721.2	+	1	484	c.300G>A	c.(298-300)ggG>ggA	p.G100G	FASLG_ENST00000340030.3_Silent_p.G100G	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	100					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TGGGCCTGGGGATGTTTCAGC	0.572000													7	21					0	0	0.000274275	0	0
F5	2153	broad.mit.edu	37	1	169511711	169511711	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:169511711C>T	ENST00000367796.3	-	13	2833	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N	F5_ENST00000367797.3_Missense_Mutation_p.D873N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	873	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTGCTTGATCTCTTTCTACC	0.463000													55	111					0	0	0.000781405	0	0
SOX17	64321	broad.mit.edu	37	8	55370930	55370930	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:55370930T>C	ENST00000297316.4	+	1	436	c.232T>C	c.(232-234)Tgg>Cgg	p.W78R		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	78					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TTTCATGGTGTGGGCTAAGGA	0.687000													9	46					0	0	0.000673444	0	0
NOMO1	23420	broad.mit.edu	37	16	14973913	14973913	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:14973913C>T	ENST00000287667.7	+	24	2970	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	933						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGAAGGAGTTCCGGTTTGAGC	0.522000													31	115					0	0	0.00148497	0	0
DIEXF	27042	broad.mit.edu	37	1	210001462	210001462	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:210001462A>T	ENST00000491415.2	+	1	111	c.54A>T	c.(52-54)aaA>aaT	p.K18N		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	18					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCCTAACTAAAAAGCAGAAGA	0.547000											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	47					0	0	0.000878237	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439748	145439748	+	Silent	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:145439748C>T	ENST00000511217.1	+	8	1927	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	SH3RF2_ENST00000359120.4_Silent_p.I625I|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	625							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCATCCATCCTGGTGAAAC	0.522000													22	69					0	0	0.000878237	0	0
ZNF439	90594	broad.mit.edu	37	19	11977098	11977098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:11977098C>T	ENST00000304030.2	+	1	327	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CCAGAAGAATCTCTACAGGGA	0.448000													69	61					0	0	0.000781405	0	0
PHF21B	112885	broad.mit.edu	37	22	45312300	45312300	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr22:45312300G>A	ENST00000313237.5	-	4	574	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	PHF21B_ENST00000396103.3_Missense_Mutation_p.P142S|PHF21B_ENST00000447824.3_Missense_Mutation_p.P130S|PHF21B_ENST00000404079.2_Missense_Mutation_p.P130S|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	142							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGCTCAGCGGAGAGGCGAGG	0.726000													16	19					0	0	0.000422831	0	0
OR1F1	4992	broad.mit.edu	37	16	3254944	3254944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:3254944G>A	ENST00000304646.2	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TCCACAAAGGGAAGGTGGAAA	0.512000													55	128					0	0	0.000781405	0	0
KCNC2	3747	broad.mit.edu	37	12	75445031	75445031	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:75445031C>T	ENST00000549446.1	-	3	1434	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	KCNC2_ENST00000540018.1_Missense_Mutation_p.E252K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E252K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E252K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E252K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E252K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E252K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E252K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	252					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TTGAAAGCTTCATGTGTTTCC	0.343000													13	13					0	0	0.00136819	0	0
CDAN1	146059	broad.mit.edu	37	15	43028535	43028535	+	Silent	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:43028535G>A	ENST00000356231.3	-	2	557	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	178						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTACGGGAGGGAACTCCTCCA	0.667000													11	14					0	0	0.000978159	0	0
C8orf74	203076	broad.mit.edu	37	8	10555406	10555406	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:10555406C>T	ENST00000304519.5	+	3	568	c.539C>T	c.(538-540)gCc>gTc	p.A180V	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	180										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CAGAAGCGCGCCGACGTGCTG	0.706000													6	5					0	0	0.00116845	0	0
GDA	9615	broad.mit.edu	37	9	74856202	74856202	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:74856202G>A	ENST00000358399.3	+	11	1216	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	GDA_ENST00000545168.1_Missense_Mutation_p.G301R|GDA_ENST00000376986.1_Missense_Mutation_p.G297R|GDA_ENST00000238018.4_Missense_Mutation_p.G375R|GDA_ENST00000376989.3_Missense_Mutation_p.G314R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	375					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGCTACTCTTGGAGGAAGCCA	0.383000													12	25					0	0	0.00185496	0	0
EPHB2	2048	broad.mit.edu	37	1	23233280	23233281	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:23233280_23233281delAA	ENST00000400191.3	+	11	1984_1985	c.1966_1967delAA	c.(1966-1968)gfs	p.K656fs	EPHB2_ENST00000374627.1_Frame_Shift_Del_p.K651fs|EPHB2_ENST00000374630.3_Frame_Shift_Del_p.K656fs|EPHB2_ENST00000374632.3_Frame_Shift_Del_p.K657fs	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	656	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGACGCTCAAGTCGGGCTAC	0.589													12	38	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27874264	27874264	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:27874264delG	ENST00000374011.2	-	6	5331	c.4363delC	c.(4363-4365)acfs	p.H1455fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Del_p.H1455fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1455							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAATCGTAGTGGGGCTGGCCC	0.692													2	4	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													7	157	---	---	---	---					
MRPL33	9553	broad.mit.edu	37	2	27997313	27997313	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:27997313delA	ENST00000296102.3	+	3	125	c.64delA	c.(64-66)gcfs	p.S22fs	MRPL33_ENST00000483992.1_Intron|MRPL33_ENST00000379666.3_Intron	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	22					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					GAGAATGGTGAGCGAAGCTGG	0.438													39	129	---	---	---	---					
PTPRG	5793	broad.mit.edu	37	3	62063933	62063934	+	Splice_Site	INS	-	-	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:62063933_62063934insA	ENST00000474889.1	+	5	992		c.e5+1		PTPRG_ENST00000295874.10_Splice_Site	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATTTTTTCAAGTAAGTTAACAG	0.337													9	33	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118506200	118506202	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:118506200_118506202delCTC	ENST00000311085.8	+	24	5794_5796	c.5714_5716delCTC	c.(5713-5718)tct>t	p.SP1905del	DMXL1_ENST00000539542.1_In_Frame_Del_p.SP1905del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1905										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGACTGTTCTCCTTCTTCTCC	0.379													28	69	---	---	---	---					
CTC-436K13.1	0	broad.mit.edu	37	5	157616107	157616107	+	RNA	DEL	G	G	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:157616107delG	ENST00000522975.1	+	0	141																											TGAGACGTTTGCAGTACATGG	0.507													5	6	---	---	---	---					
PRUNE2	158471	broad.mit.edu	37	9	79244208	79244208	+	Splice_Site	DEL	T	T	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:79244208delT	ENST00000428286.1	-	16	9177		c.e16-2		PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Splice_Site|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000376718.3_Splice_Site			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATTTTGAACTAAAAAAAAAA	0.333													4	9	---	---	---	---					
PCDH17	27253	broad.mit.edu	37	13	58240609	58240610	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:58240609_58240610insT	ENST00000377918.3	+	2	2599_2600	c.2573_2574insT	c.(2572-2574)attfs	p.I858fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	858					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGACAGACAATTTTCCCGCAG	0.401													16	43	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1220396	1220403	+	Frame_Shift_Del	DEL	CCTGGAGT	CCTGGAGT	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:1220396_1220403delCCTGGAGT	ENST00000326873.7	+	4	1662_1669	c.489_496delCCTGGAGT	c.(487-498)ggacfs	p.GLEY163fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	163	Protein kinase.		DGL -> NDM (in PJS).|G -> D (in testicular tumors; a tumor with seminoma and teratoma components; associated with severely impaired but detectable kinase activity; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.E165*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATTGACGGCCTGGAGTACCTGCATAG	0.649		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	1	---	---	---	---