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
HSPG2	3339	broad.mit.edu	37	1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	rs143523507		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:22186712C>T	uc009vqd.3	-	39	5015	c.4975G>A	c.(4975-4977)Gtg>Atg	p.V1659M	HSPG2_uc001bfj.3_Missense_Mutation_p.V1658M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1658	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637												
C1orf130	400746	broad.mit.edu	37	1	24927454	24927454	+	Missense_Mutation	SNP	G	G	A	rs142867139	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:24927454G>A	uc001bjk.2	+	2	207	c.106G>A	c.(106-108)Gtt>Att	p.V36I		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	36	Poly-Val.					integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		TGTTGCTGCCGTTGTGGTGGT	0.552												
TTC39A	22996	broad.mit.edu	37	1	51768762	51768762	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:51768762C>T	uc001csl.3	-	8	970	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TTC39A_uc001csk.3_Missense_Mutation_p.V254M|TTC39A_uc010ond.2_Missense_Mutation_p.V226M|TTC39A_uc010one.2_Missense_Mutation_p.V253M|TTC39A_uc010onf.2_Missense_Mutation_p.V257M|TTC39A_uc001csn.3_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	289							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CTACCGAGCACGAAGGTGAGG	0.627												
DMRTB1	63948	broad.mit.edu	37	1	53932300	53932300	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:53932300C>G	uc001cvq.1	+	3	1049	c.994C>G	c.(994-996)Ccc>Gcc	p.P332A		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	332					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GTCGGGTGAGCCCAGCCAGCC	0.552												
SRSF11	9295	broad.mit.edu	37	1	70703140	70703140	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:70703140C>G	uc001des.3	+	6	747	c.623C>G	c.(622-624)cCa>cGa	p.P208R	SRSF11_uc001det.3_Missense_Mutation_p.P208R|SRSF11_uc001deu.2_Missense_Mutation_p.P208R|SRSF11_uc001dev.3_Missense_Mutation_p.P18R|SRSF11_uc001dew.3_Missense_Mutation_p.P148R	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	208					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CTCGTTTCACCAAGTCTGAAA	0.378												
S100A7A	338324	broad.mit.edu	37	1	153391728	153391728	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:153391728C>T	uc001fbt.1	+	2	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	83	EF-hand 2.					cytoplasm	calcium ion binding	p.A83A(4)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACATAGCCGCAGACTACC	0.522												
FDPS	2224	broad.mit.edu	37	1	155287783	155287783	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:155287783C>T	uc001fkc.2	+	4	751	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	FDPS_uc021paw.1_Missense_Mutation_p.R112C|FDPS_uc001fkd.2_Missense_Mutation_p.R112C|FDPS_uc021pax.1_Missense_Mutation_p.R7C|FDPS_uc001fke.2_Missense_Mutation_p.R178C|RUSC1-AS1_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	178					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ATCCCTTACCCGCCGGGGACA	0.512												
ADCY10	55811	broad.mit.edu	37	1	167806486	167806486	+	Splice_Site	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:167806486C>T	uc001ger.3	-	22	3375	c.3077_splice	c.e22+1	p.S1026_splice	ADCY10_uc010plj.2_Splice_Site_p.S873_splice|ADCY10_uc009wvk.3_Splice_Site_p.S934_splice	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1026					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TATGCCTCTACCTGCGATTTT	0.348												
TMEM63A	9725	broad.mit.edu	37	1	226040425	226040425	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:226040425G>A	uc001hpm.2	-	19	2465	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	615						integral to membrane|lysosomal membrane	nucleotide binding			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)					AAGACACACAGCATCCATGCA	0.552												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
OR52M1	119772	broad.mit.edu	37	11	4566682	4566682	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:4566682T>C	uc010qyf.2	+	0	262	c.262T>C	c.(262-264)Tgg>Cgg	p.W88R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W88*(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAATCTTCTGGTTCGGTGC	0.517												
OR56A3	390083	broad.mit.edu	37	11	5968802	5968802	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:5968802G>A	uc010qzt.2	+	0	226	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGACATCGTGCTCTGCCT	0.587												
OR8H2	390151	broad.mit.edu	37	11	55872670	55872670	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:55872670G>A	uc010riy.2	+	0	152	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428										HNSCC(53;0.14)		
SF3B2	10992	broad.mit.edu	37	11	65830517	65830517	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:65830517A>G	uc001ogy.1	+	16	2055	c.2015A>G	c.(2014-2016)aAa>aGa	p.K672R		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	672					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCTGGGGCAAACCTCCAGTG	0.498												
MMP12	4321	broad.mit.edu	37	11	102743841	102743841	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:102743841C>G	uc001phk.3	-	2	200	c.103_splice	c.e2-1	p.R35_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	35					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTCTAAGTATCTCTGGAAAAA	0.328												
LPAR5	57121	broad.mit.edu	37	12	6729589	6729589	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:6729589G>A	uc009zer.2	-	1	1107	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	LPAR5_uc001qps.2_Missense_Mutation_p.R276C|LPAR5_uc010sff.1_Missense_Mutation_p.R276C|LPAR5_uc021qub.1_Missense_Mutation_p.R276C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	276						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGCACCCCGCGCACGCGATCG	0.682												
PDE3A	5139	broad.mit.edu	37	12	20807040	20807040	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:20807040G>A	uc001reh.2	+	14	3125	c.3085G>A	c.(3085-3087)Gac>Aac	p.D1029N	PDE3A_uc021qwa.1_Missense_Mutation_p.D707N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1029	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATGGGTGGAAGACAGCGATGA	0.478												
KRT81	3887	broad.mit.edu	37	12	52685111	52685112	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:52685111_52685112insG	uc001sab.3	-	0	188_189	c.138_139insC	c.(136-141)ggcagcfs	p.G46fs	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	46	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACGCTGTGGCTGCCGAAGCCCC	0.748												
NOC4L	79050	broad.mit.edu	37	12	132635897	132635897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:132635897C>T	uc001ujz.1	+	10	1098	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	353					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTGGCTGACCTCTTCCTGTC	0.652												
PCCA	5095	broad.mit.edu	37	13	100809554	100809554	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr13:100809554A>G	uc001voo.3	+	5	534	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	PCCA_uc010aga.3_Missense_Mutation_p.Y117C|PCCA_uc010tiz.2_Missense_Mutation_p.Y143C	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.G142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CATCCAGGTTATGGATTCCTT	0.318												
NPAS3	64067	broad.mit.edu	37	14	34270129	34270129	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr14:34270129C>T	uc001wru.3	+	11	2680	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	NPAS3_uc001wrs.3_Silent_p.L859L|NPAS3_uc001wrv.3_Silent_p.L842L|NPAS3_uc001wrt.3_Silent_p.L840L	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAGATGCTCTACCACCACG	0.637												
GOLGA6L10	647042	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr15:83014132C>G	uc021ssz.1	-	5	551	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript			A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	151								p.E151Q(4)		endometrium(1)|kidney(4)	5						GCTGGGGGCTCTGGGGCCAGG	0.522												
CACNG3	10368	broad.mit.edu	37	16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr16:24366270G>A	uc002dmf.3	+	2	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	138					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A138T(2)|p.A138V(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572												
OR3A4P	390756	broad.mit.edu	37	17	3214528	3214528	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:3214528C>T	uc002fvi.2	+	0	990	c.924C>T	c.(922-924)tcC>tcT	p.S308S						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		ACTGTTCCTCCGATGCTGGCG	0.582												
GJC1	10052	broad.mit.edu	37	17	42882694	42882694	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:42882694G>A	uc002ihj.3	-	1	1003	c.492C>T	c.(490-492)ggC>ggT	p.G164G	GJC1_uc002ihk.3_Silent_p.G164G|GJC1_uc002ihl.3_Silent_p.G164G|GJC1_uc021tyf.1_Silent_p.G164G	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	164					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCCGTCGTCGGCCATCATGCT	0.468												
DLX3	1747	broad.mit.edu	37	17	48072315	48072315	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:48072315G>A	uc002ipy.3	-	0	274	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGGAGCTGGAGATGTCGGTGA	0.642												
ABCA6	23460	broad.mit.edu	37	17	67111007	67111007	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:67111007C>T	uc002jhw.1	-	12	1853	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	560	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G559D(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGAGGACAGACGCCAGTTATC	0.348												
MC2R	4158	broad.mit.edu	37	18	13885215	13885216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr18:13885215_13885216insG	uc002ksp.1	-	1	479_480	c.302_303insC	c.(301-303)acafs	p.T101fs	MC2R_uc021uhs.1_Frame_Shift_Ins_p.T101fs	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	101					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTCATCGGCTGTGGTTTCAAA	0.480												
MAP1S	55201	broad.mit.edu	37	19	17837113	17837113	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:17837113G>A	uc002nhe.1	+	4	929	c.920G>A	c.(919-921)cGc>cAc	p.R307H	MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.R281H	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	307	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTGCTGCGGCGCAAACTGGCG	0.687												
TMEM161A	54929	broad.mit.edu	37	19	19243312	19243312	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:19243312G>A	uc002nlg.3	-	4	322	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	TMEM161A_uc002nli.3_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	98					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		p.R98L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGGAAGAAGCGCAGGACTGTG	0.582												
ZNF229	7772	broad.mit.edu	37	19	44934110	44934110	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:44934110C>T	uc002oze.1	-	5	1280	c.846G>A	c.(844-846)ccG>ccA	p.P282P	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.P276P	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGATGCGGGGGAAGGT	0.443												
JOSD2	126119	broad.mit.edu	37	19	51009714	51009714	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:51009714G>A	uc002psn.1	-	3	419	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	130	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TCCACCTGGCGCAGGGCCACC	0.701												
VIT	5212	broad.mit.edu	37	2	37035618	37035618	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:37035618G>A	uc002rpl.3	+	14	1695	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	VIT_uc002rpm.3_Missense_Mutation_p.V450M|VIT_uc010ezv.3_Missense_Mutation_p.V428M|VIT_uc010ezw.3_Missense_Mutation_p.V429M	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	450	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTTCTAGGCCGTGTGCAGAAC	0.602												
NCKAP5	344148	broad.mit.edu	37	2	133541700	133541700	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:133541700G>A	uc002ttp.3	-	13	3058	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	895							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTTGACCGTGACCCTGGAGT	0.607												
NEB	4703	broad.mit.edu	37	2	152477436	152477436	+	Silent	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:152477436A>G	uc021vrb.1	-	66	9857	c.9828T>C	c.(9826-9828)agT>agC	p.S3276S	NEB_uc002txu.3_Silent_p.S3519S|NEB_uc021vrc.1_Silent_p.S3519S|NEB_uc010fnx.3_Silent_p.S3264S|NEB_uc021vrd.1_Silent_p.S3276S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3276					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTACATCACTGGCAATAT	0.473												
GAD1	2571	broad.mit.edu	37	2	171705817	171705817	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:171705817C>T	uc002ugi.3	+	11	1563	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	GAD1_uc010fqc.3_5'UTR	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	381					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGGTGGGCTGCTCATGTCCAG	0.532												
CELSR1	9620	broad.mit.edu	37	22	46793605	46793605	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr22:46793605G>A	uc003bhw.1	-	11	5667	c.5667C>T	c.(5665-5667)gaC>gaT	p.D1889D	CELSR1_uc011arc.1_Silent_p.D210D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1889	EGF-like 5; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCCAGGCGTCGTGGCAGC	0.617												
DNAH1	25981	broad.mit.edu	37	3	52409985	52409986	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:52409985_52409986insA	uc011bef.2	+	45	7435_7436	c.7174_7175insA	c.(7174-7176)gaafs	p.E2392fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2392	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTCCTTGGAGAAAAAAGCTAC	0.609												
CASR	846	broad.mit.edu	37	3	121980782	121980782	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:121980782C>T	uc003eew.4	+	3	1338	c.900C>T	c.(898-900)gcC>gcT	p.A300A	CASR_uc003eev.4_Silent_p.A300A	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	300					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGCCTGGGCCAGCTCCTCCC	0.602												
FRYL	285527	broad.mit.edu	37	4	48559631	48559631	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:48559631T>G	uc003gyh.1	-	33	4569	c.3964A>C	c.(3964-3966)Aaa>Caa	p.K1322Q	FRYL_uc003gyk.3_Missense_Mutation_p.K1322Q|FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGAGAGGTTTTAAGTCCACC	0.512												
KIT	3815	broad.mit.edu	37	4	55592080	55592080	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:55592080G>A	uc010igr.3	+	8	1491	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	KIT_uc010igs.3_Silent_p.P468P|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.2_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	468	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.(449_514)?(42)|p.P468P(2)|p.P468L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCACCGTTTGGAAAGC	0.453		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors			
GPR98	84059	broad.mit.edu	37	5	90136528	90136528	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:90136528C>T	uc003kju.3	+	77	16841	c.16745C>T	c.(16744-16746)aCg>aTg	p.T5582M	GPR98_uc003kjt.3_Missense_Mutation_p.T3288M|GPR98_uc003kjw.3_Missense_Mutation_p.T1243M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5582					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCATCCTAACGCCAGAGACA	0.423												
OR2V2	285659	broad.mit.edu	37	5	180582407	180582407	+	Silent	SNP	C	C	T	rs149585637	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:180582407C>T	uc011dhj.2	+	0	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGGATAATCGATGGCTTGA	0.493												
TNXB	7148	broad.mit.edu	37	6	32013041	32013041	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:32013041G>T	uc003nzl.2	-	31	10865	c.10663C>A	c.(10663-10665)Ccc>Acc	p.P3555T	TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Missense_Mutation_p.P24T	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3602	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTAGGCGGGGCTCTTCAGGA	0.642												
UTRN	7402	broad.mit.edu	37	6	145115044	145115044	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:145115044A>G	uc003qkt.3	+	61	9087	c.8995A>G	c.(8995-8997)Atc>Gtc	p.I2999V		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2999	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCATGATGCCATCCAGATCCC	0.498												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PHTF2	57157	broad.mit.edu	37	7	77552026	77552026	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:77552026G>A	uc003ugs.4	+	9	1176	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	PHTF2_uc003ugo.4_Silent_p.V312V|PHTF2_uc003ugp.3_Silent_p.V312V|PHTF2_uc010ldv.3_Silent_p.V312V|PHTF2_uc003ugq.4_Silent_p.V312V|PHTF2_uc003ugr.4_Silent_p.V316V|PHTF2_uc003ugt.4_Silent_p.V316V|PHTF2_uc003ugu.4_Silent_p.V312V|PHTF2_uc022agp.1_Silent_p.V350V|PHTF2_uc003ugv.3_Silent_p.V175V|PHTF2_uc010ldw.2_Silent_p.V175V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTCGTCATGTGGACAGGACTT	0.398												
TRRAP	8295	broad.mit.edu	37	7	98522846	98522846	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:98522846G>C	uc003upp.3	+	21	3144	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H	TRRAP_uc011kis.2_Missense_Mutation_p.D979H|TRRAP_uc003upr.3_Missense_Mutation_p.D671H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	979					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCCTGGAGGACAACAAGCA	0.567												
PMPCB	9512	broad.mit.edu	37	7	102949403	102949403	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:102949403G>A	uc003vbk.1	+	7	888	c.854G>A	c.(853-855)cGt>cAt	p.R285H	PMPCB_uc010liu.1_Missense_Mutation_p.R285H|PMPCB_uc003vbl.3_Missense_Mutation_p.R285H|PMPCB_uc011kll.1_Missense_Mutation_p.R180H|PMPCB_uc011klm.1_Missense_Mutation_p.R160H	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	285					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACTAGATTCGTGTGAGGGAT	0.408												
FLNC	2318	broad.mit.edu	37	7	128494166	128494166	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:128494166A>G	uc003vnz.4	+	39	6832	c.6623A>G	c.(6622-6624)gAg>gGg	p.E2208G	FLNC_uc003voa.4_Missense_Mutation_p.E2175G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2208	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCGGGTGGAGGAGTCCACC	0.687												
FRMD3	257019	broad.mit.edu	37	9	85958187	85958187	+	Silent	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:85958187A>G	uc004ams.2	-	4	592	c.390T>C	c.(388-390)ctT>ctC	p.L130L	FRMD3_uc004amr.1_Silent_p.L130L|FRMD3_uc022bja.1_Silent_p.L86L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	130	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTTTAATCTGAAGGTATAAAA	0.448												
LAMC3	10319	broad.mit.edu	37	9	133942520	133942520	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:133942520G>A	uc004caa.1	+	13	2619	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	841	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACCACGGGTGACCACTGTGA	0.642												
SURF4	6836	broad.mit.edu	37	9	136230531	136230531	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:136230531G>A	uc004cdj.3	-	5	778	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SURF4_uc011mda.2_Silent_p.N207N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N173N|SURF4_uc011mdc.2_Silent_p.N173N	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	216						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAATATACGTTGATGGCAA	0.478												
USP11	8237	broad.mit.edu	37	X	47104414	47104414	+	Splice_Site	SNP	G	G	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:47104414G>C	uc004dhp.3	+	16	2216	c.2216_splice	c.e16-1	p.A739_splice	USP11_uc004dhq.3_Splice_Site_p.A465_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567												
HUWE1	10075	broad.mit.edu	37	X	53576344	53576344	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:53576344C>T	uc004dsp.3	-	66	10013	c.9611G>A	c.(9610-9612)cGt>cAt	p.R3204H	HUWE1_uc004dsn.3_Missense_Mutation_p.R2012H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3204					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCGGTGTAGACGGCTAGTATT	0.557												
DCAF12L1	139170	broad.mit.edu	37	X	125686329	125686329	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:125686329G>A	uc022cds.1	-	0	263	c.263C>T	c.(262-264)aCg>aTg	p.T88M	DCAF12L1_uc004eul.3_Missense_Mutation_p.T88M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	88										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGGCGCTCCGTCAGCAGCTC	0.657												
MAGEC1	9947	broad.mit.edu	37	X	140995245	140995245	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:140995245G>A	uc004fbt.3	+	3	2379	c.2055G>A	c.(2053-2055)ggG>ggA	p.G685G	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.G344G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	685							protein binding	p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGAGGGGGAGGATTCCC	0.577										HNSCC(15;0.026)		
HAUS7	55559	broad.mit.edu	37	X	152735936	152735936	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:152735936G>A	uc004fhn.2	-	0	668	c.110C>T	c.(109-111)gCg>gTg	p.A37V	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.A37V|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	37					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CTCCACAGCCGCCCTGGACAC	0.726