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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
KANSL1	284058	broad.mit.edu	37	17	44117226	44117239	+	Frame_Shift_Del	DEL	TGGAAATGCAGGCT	TGGAAATGCAGGCT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	TGGAAATGCAGGCT	TGGAAATGCAGGCT	-	-	TGGAAATGCAGGCT	TGGAAATGCAGGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:44117226_44117239delTGGAAATGCAGGCT	ENST00000575318.1	-	7	2065_2078	c.2032_2045delAGCCTGCATTTCCA	c.(2032-2046)agcctgcatttccagfs	p.SLHFQ678fs	KANSL1_ENST00000574590.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.SLHFQ35fs|KANSL1_ENST00000262419.6_Frame_Shift_Del_p.SLHFQ678fs			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	678						MLL1 complex	protein binding				NA						CAGCATGCTCTGGAAATGCAGGCTTGTGGGAACA	0.463		NA											False	1	False	17:44117226	0
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616		NA											False	2	True	X:107979510	0
GORASP2	26003	broad.mit.edu	37	2	171822424	171822424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:171822424delA	ENST00000234160.4	+	10	1958	c.1143delA	c.(1141-1143)ggafs	p.G381fs	GORASP2_ENST00000452526.2_Frame_Shift_Del_p.G393fs	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	381						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAAGCTCAGGAGAGCTGCTGT	0.602		NA											False	1	False	2:171822424	0
PLXNA4	91584	broad.mit.edu	37	7	131844259	131844259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:131844259G>A	ENST00000359827.3	-	25	5595	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W			Q9HCM2	PLXA4_HUMAN	plexin A4	1545						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						GCTTTGGGCCGGTGGGAGCAA	0.557		NA											False	0	False	7:131844259	0
NUP107	57122	broad.mit.edu	37	12	69082833	69082833	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:69082833C>T	ENST00000229179.4	+	2	432	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	34					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGAGTTTTACGTATCCTTTG	0.378		NA											False	0	False	12:69082833	0
MAN2A2	4122	broad.mit.edu	37	15	91454724	91454724	+	Missense_Mutation	SNP	G	G	A	rs146632780	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:91454724G>A	ENST00000360468.3	+	13	2071	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	MAN2A2_ENST00000431652.2_Missense_Mutation_p.V193M|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V685M	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	685					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCCCTGGCCGTGCAGATCAG	0.647		NA											False	0	False	15:91454724	0
PI16	221476	broad.mit.edu	37	6	36930968	36930968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:36930968G>A	ENST00000373674.3	+	5	1178	c.850G>A	c.(850-852)Gta>Ata	p.V284I	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	284						extracellular region|integral to membrane	peptidase inhibitor activity	p.V284I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCACCTTGCGTAACAACTGA	0.567		NA											False	0	False	6:36930968	0
SUCLG1	8802	broad.mit.edu	37	2	84652654	84652654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:84652654G>A	ENST00000393868.2	-	8	1109	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	300					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AATTGCCCCGGCATGACCCAT	0.473		NA											False	0	False	2:84652654	0
HERC2	8924	broad.mit.edu	37	15	28518096	28518096	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:28518096G>C	ENST00000261609.7	-	8	963	c.855C>G	c.(853-855)gaC>gaG	p.D285E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	285					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)		CCAAGTGCTGGTCCTGCAGGG	0.612		NA											False	0	False	15:28518096	0
OR10H3	26532	broad.mit.edu	37	19	15852910	15852910	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:15852910G>A	ENST00000305892.1	+	1	708	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGAGGGCCGGCACAAGACTT	0.502		NA											False	0	False	19:15852910	0
KEL	3792	broad.mit.edu	37	7	142641797	142641797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:142641797G>A	ENST00000355265.2	-	12	1820	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	449					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTGATGAGGGCATCCCGGAT	0.617		NA											False	0	True	7:142641797	0
PIGQ	9091	broad.mit.edu	37	16	633162	633162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:633162G>A	ENST00000026218.5	+	10	1899	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	604					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTGAACACGGCAGGCCCTGC	0.642		NA											False	0	False	16:633162	0
RB1CC1	9821	broad.mit.edu	37	8	53555118	53555118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:53555118C>T	ENST00000025008.5	-	18	4653	c.4130G>A	c.(4129-4131)cGt>cAt	p.R1377H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1377					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCAAGCAAACGAGCTCGATC	0.358		NA											False	0	True	8:53555118	0
GRIK4	2900	broad.mit.edu	37	11	120769305	120769305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:120769305C>T	ENST00000527524.2	+	12	1516	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	410					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCAACATCTCGGACACTCTC	0.612		NA											False	0	False	11:120769305	0
PVALB	5816	broad.mit.edu	37	22	37209707	37209707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:37209707C>T	ENST00000216200.5	-	4	342	c.287G>A	c.(286-288)gGc>gAc	p.G96D	PVALB_ENST00000417718.2_Missense_Mutation_p.G96D|PVALB_ENST00000404171.1_Missense_Mutation_p.G64D	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	96	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CCCAATTTTGCCGTCCCCATC	0.512		NA											False	0	False	22:37209707	0
LPHN2	23266	broad.mit.edu	37	1	82421570	82421570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:82421570G>A	ENST00000370728.1	+	13	2476	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N			O95490	LPHN2_HUMAN	latrophilin 2	611					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCAATTGTTGACACAGTGGA	0.358		NA											False	0	False	1:82421570	0
HMGXB4	10042	broad.mit.edu	37	22	35660888	35660888	+	Silent	SNP	G	G	A	rs148445726		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:35660888G>A	ENST00000216106.5	+	5	635	c.507G>A	c.(505-507)tcG>tcA	p.S169S	HMGXB4_ENST00000444518.2_Silent_p.S60S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	169					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCACAAATCGAAAAAAATGA	0.463		NA											False	0	True	22:35660888	0
TSHZ1	10194	broad.mit.edu	37	18	72998573	72998573	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:72998573A>G	ENST00000322038.5	+	2	1660	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Y404C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	404						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCGCCAGCTACACCTGGCAG	0.612		NA											False	0	False	18:72998573	0
KRI1	65095	broad.mit.edu	37	19	10671101	10671101	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:10671101G>A	ENST00000312962.6	-	9	724	c.705C>T	c.(703-705)aaC>aaT	p.N235N	KRI1_ENST00000361821.5_Silent_p.N231N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	235	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTCAGGGTCGTTCCAGTATT	0.552		NA											False	0	False	19:10671101	0
CNTN6	27255	broad.mit.edu	37	3	1415695	1415695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:1415695G>A	ENST00000446702.2	+	16	2660	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D	CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D|CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D			Q9UQ52	CNTN6_HUMAN	contactin 6	678	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G678D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTGTTGCCGGCAACAGCATT	0.383		NA											False	0	False	3:1415695	0
ITFG1	81533	broad.mit.edu	37	16	47195677	47195677	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:47195677G>A	ENST00000320640.6	-	16	1873	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	549						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GGGACATTGTGAGGGTATGGA	0.373		NA											False	0	False	16:47195677	0
ADAMTS4	9507	broad.mit.edu	37	1	161166318	161166318	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:161166318A>T	ENST00000367995.3	-	2	1411	c.986T>A	c.(985-987)aTg>aAg	p.M329K	ADAMTS4_ENST00000367996.5_Intron			O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			tgtgcagtgcatggcctgcGG	0.562		NA											False	0	True	1:161166318	0
DOLK	22845	broad.mit.edu	37	9	131708515	131708515	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:131708515C>T	ENST00000372586.3	-	1	1383	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	356					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						AGAGCAGTGGCCGGTCAAAGA	0.547		NA											False	0	False	9:131708515	0
ZNF781	163115	broad.mit.edu	37	19	38160168	38160168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:38160168C>A	ENST00000358582.4	-	4	1630	c.882G>T	c.(880-882)ttG>ttT	p.L294F	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.L294F	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GGACAGGAGACAAAAACCTTC	0.383		NA											False	0	True	19:38160168	0
AQP9	366	broad.mit.edu	37	15	58471472	58471472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:58471472C>T	ENST00000219919.4	+	5	1011	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.A149V|AQP9_ENST00000536493.1_Missense_Mutation_p.A214V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	214					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGTGGCTGTGCCATGAACCCA	0.557		NA											False	0	False	15:58471472	0
IZUMO1	284359	broad.mit.edu	37	19	49248495	49248495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49248495G>A	ENST00000332955.2	-	3	833	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	96					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTGTGATGCGTTTCAGATCC	0.507		NA											False	0	True	19:49248495	0
TP53I13	90313	broad.mit.edu	37	17	27898646	27898646	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:27898646A>T	ENST00000301057.7	+	4	336	c.221A>T	c.(220-222)cAt>cTt	p.H74L	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	74						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CCCTGTGCCCATCCCTGGCTG	0.577		NA											False	0	True	17:27898646	0
ZAP70	7535	broad.mit.edu	37	2	98349783	98349783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:98349783G>A	ENST00000264972.5	+	7	1029	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	272	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CACACTCCCAGCCCACCCATC	0.706		NA											False	0	True	2:98349783	0
LDB1	8861	broad.mit.edu	37	10	103868035	103868035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:103868035C>T	ENST00000361198.5	-	11	1566	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	LDB1_ENST00000425280.1_Missense_Mutation_p.G351R	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCCTCGTCCCCGAACTCCCCG	0.632		NA											False	0	True	10:103868035	0
CXXC4	80319	broad.mit.edu	37	4	105412405	105412405	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:105412405C>T	ENST00000394767.2	-	2	1005	c.555G>A	c.(553-555)ccG>ccA	p.P185P	CXXC4_ENST00000426831.1_Silent_p.P16P|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	16					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ACGGCTCTGGCGGGCAGCCAG	0.627		NA											False	0	True	4:105412405	0
RPP40	10799	broad.mit.edu	37	6	5004223	5004223	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:5004223C>G	ENST00000380051.2	-	1	58	c.14G>C	c.(13-15)cGc>cCc	p.R5P	RPP40_ENST00000319533.5_Missense_Mutation_p.R5P	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	5					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCGAAGCCGGCGCAGCGTGGC	0.697		NA									OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:5004223	0
SNRPE	6635	broad.mit.edu	37	1	203831342	203831342	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:203831342T>A	ENST00000414487.2	+	2	118	c.73T>A	c.(73-75)Tta>Ata	p.L25I	SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	25					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGATACTTACAAAATGT	0.403		NA											False	0	False	1:203831342	0
DSCAML1	57453	broad.mit.edu	37	11	117307881	117307881	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:117307881G>A	ENST00000321322.6	-	26	4858	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	DSCAML1_ENST00000527706.1_Silent_p.C1349C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1559					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.C1619C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTCATTGCCGCAGCCCGCAC	0.632		NA											False	0	False	11:117307881	0
AZGP1	563	broad.mit.edu	37	7	99565782	99565782	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:99565782C>T	ENST00000411734.1	-	3	605	c.600G>A	c.(598-600)cgG>cgA	p.R200R	AZGP1_ENST00000292401.4_Silent_p.R203R			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	203					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAGTACCTTGCCGGTCCAGGA	0.532		NA											False	0	False	7:99565782	0
ADCY9	115	broad.mit.edu	37	16	4163864	4163864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:4163864C>T	ENST00000294016.3	-	2	2118	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	527					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAACTTTGCCGGCCACTCC	0.522		NA											False	0	False	16:4163864	0
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473		NA											False	0	False	3:112324383	0
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552		NA											False	0	False	8:135614834	0
IRF2	3660	broad.mit.edu	37	4	185329365	185329365	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:185329365G>A	ENST00000393593.3	-	6	683	c.476C>T	c.(475-477)gCg>gTg	p.A159V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	159					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AGTCAGGACCGCATACTCAGG	0.393		NA											False	0	False	4:185329365	0
RHOT1	55288	broad.mit.edu	37	17	30521098	30521098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:30521098G>A	ENST00000358365.3	+	11	1068	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N|RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000333942.6_Missense_Mutation_p.D281N|RHOT1_ENST00000580976.1_3'UTR	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	281					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGATGACCTGGATTTGACACC	0.363		NA											False	0	False	17:30521098	0
KCNB2	9312	broad.mit.edu	37	8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCCAGGACGCGCCTGGGGAA	0.542		NA											False	0	False	8:73480147	0
MPDZ	8777	broad.mit.edu	37	9	13140072	13140072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:13140072G>A	ENST00000319217.7	-	28	4164	c.3917C>T	c.(3916-3918)gCc>gTc	p.A1306V	MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1306					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCCATTTCGGCAAAGGCTGA	0.493		NA											False	0	False	9:13140072	0
MYL3	4634	broad.mit.edu	37	3	46904790	46904790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:46904790G>A	ENST00000395869.1	-	1	142	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYL3_ENST00000292327.4_Missense_Mutation_p.R31C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	31					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCCTTAGGGCGCTCAGGCTCA	0.602		NA											False	0	False	3:46904790	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097										NA								p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463		NA											False	0	True	15:20644850	0
CDON	50937	broad.mit.edu	37	11	125871630	125871630	+	Silent	SNP	G	G	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:125871630G>C	ENST00000392693.3	-	11	2269	c.2142C>G	c.(2140-2142)tcC>tcG	p.S714S	CDON_ENST00000263577.7_Silent_p.S714S|CDON_ENST00000531738.1_Silent_p.S91S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	714					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTGCCTAGAGGAATCTGTAA	0.433		NA											False	0	False	11:125871630	0
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418		NA											False	0	False	3:52940182	0
PDE1C	5137	broad.mit.edu	37	7	31793127	31793127	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:31793127G>A	ENST00000396193.1	-	19	2774	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PDE1C_ENST00000321453.7_Silent_p.Y667Y|PDE1C_ENST00000396191.1_Silent_p.Y667Y	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	667					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)			AGCTAGATGCGTAAGCAGGGC	0.478		NA											False	0	False	7:31793127	0
FLG	2312	broad.mit.edu	37	1	152282688	152282688	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:152282688C>T	ENST00000368799.1	-	3	4709	c.4674G>A	c.(4672-4674)ggG>ggA	p.G1558G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1558	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGACGTGACCCTGAGTGCC	0.592		NA							Ichthyosis				False	0	True	1:152282688	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
CCNG1	900	broad.mit.edu	37	5	162868135	162868135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:162868135G>A	ENST00000340828.2	+	3	540	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.V106I	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	106					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TTATTTGGCTGTAAAATCAAT	0.393		NA											False	0	False	5:162868135	0
KLHL25	64410	broad.mit.edu	37	15	86311613	86311613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:86311613C>T	ENST00000337975.5	-	2	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	477						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGGGGGCACTCGGCCTTGATC	0.612		NA											False	0	False	15:86311613	0
JAM2	58494	broad.mit.edu	37	21	27066110	27066110	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr21:27066110G>T	ENST00000480456.1	+	4	834	c.284G>T	c.(283-285)cGg>cTg	p.R95L	JAM2_ENST00000312957.5_Missense_Mutation_p.R95L|JAM2_ENST00000400532.1_Missense_Mutation_p.R95L|JAM2_ENST00000425221.2_Missense_Mutation_p.R59L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	95	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAATATCCGGATCAAAAAT	0.378		NA											False	0	False	21:27066110	0
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:32909720C>T	ENST00000304056.4	-	4	1808	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370								p.R370H(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428		NA											False	0	False	7:32909720	0
SMAD4	4089	broad.mit.edu	37	18	48604703	48604703	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:48604703T>G	ENST00000342988.3	+	12	2063	c.1525T>G	c.(1525-1527)Tgg>Ggg	p.W509G	SMAD4_ENST00000588745.1_Missense_Mutation_p.W413G|SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	509	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTGAAAGGCTGGGGACCGGA	0.473		NA											False	0	True	18:48604703	0
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627		NA											False	0	False	19:40395919	0
AMPD1	270	broad.mit.edu	37	1	115217379	115217379	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:115217379T>A	ENST00000369538.3	-	12	1928	c.1881A>T	c.(1879-1881)ttA>ttT	p.L627F	AMPD1_ENST00000520113.2_Missense_Mutation_p.L631F|AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	598					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L598F(2)|p.L631F(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	TCACCTTTTTTAAATTTAGGC	0.418		NA											False	0	True	1:115217379	0
NBPF3	84224	broad.mit.edu	37	1	21795227	21795227	+	Silent	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:21795227T>A	ENST00000318220.6	+	6	1060	c.12T>A	c.(10-12)tcT>tcA	p.S4S	NBPF3_ENST00000342104.5_Silent_p.S60S|NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318249.5_Silent_p.S60S			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	60						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTGGTATCTGCCGGCCCTT	0.512		NA									OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:21795227	0
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:39227663C>T	ENST00000340369.3	-	2	3502	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602		NA											False	0	False	3:39227663	0
ZNF544	27300	broad.mit.edu	37	19	58773981	58773981	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:58773981C>G	ENST00000269829.4	+	7	2483	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	ZNF544_ENST00000596652.1_Nonsense_Mutation_p.S670*|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642*|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAAGCCTTTTCAGGGAGCTCT	0.453		NA											False	0	True	19:58773981	0
DVL2	1856	broad.mit.edu	37	17	7137472	7137472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:7137472C>T	ENST00000005340.5	-	1	392	c.110G>A	c.(109-111)cGc>cAc	p.R37H	DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	37	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GAGGGTGATGCGCTCGGCGGG	0.602		NA											False	0	False	17:7137472	0
