Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LAMA4	3910	broad.mit.edu	37	6	112462655	112462655	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr6:112462655G>A	ENST00000230538.7	-	21	3115	c.2718C>T	c.(2716-2718)taC>taT	p.Y906Y	LAMA4_ENST00000424408.2_Silent_p.Y899Y|LAMA4_ENST00000522006.1_Silent_p.Y899Y|LAMA4_ENST00000389463.4_Silent_p.Y899Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	906	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATTATAGACGTATACCAGAT	0.368000													26	62					0	0	0.667858	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926609	22926609	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:22926609T>A	ENST00000261374.3	+	2	1264	c.830T>A	c.(829-831)cTc>cAc	p.L277H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	277						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.L277H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGCGAGCGACTCATCACTGAC	0.557000													8	218					0	0	0.335167	0	0
DNAH10	196385	broad.mit.edu	37	12	124408831	124408831	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:124408831T>C	ENST00000409039.3	+	66	11289	c.11264T>C	c.(11263-11265)aTt>aCt	p.I3755T	CCDC92_ENST00000544798.1_5'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3755					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAGGAAACATTTCCCTGGAG	0.413000													5	11					0	0	0.184627	0	0
CROCCP2	0	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													3	28					0	0	0.150653	0	0
AMOTL1	154810	broad.mit.edu	37	11	94592844	94592844	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:94592844T>G	ENST00000433060.2	+	9	2240	c.2099T>G	c.(2098-2100)tTt>tGt	p.F700C	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.F650C	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	700						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATCCGACACTTTGCCATGAAT	0.522000													3	21					0	0	0.150653	0	0
ATF6	22926	broad.mit.edu	37	1	161816351	161816351	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:161816351A>T	ENST00000367942.3	+	10	1367	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	434					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AGATGGTATTATCCAGAAAAA	0.413000													4	102					0	0	0.150653	0	0
MAT1A	4143	broad.mit.edu	37	10	82036179	82036179	+	Missense_Mutation	SNP	C	C	T	rs147356286		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr10:82036179C>T	ENST00000372213.3	-	6	981	c.721G>A	c.(721-723)Gtc>Atc	p.V241I		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	241					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGTGGTAGACGGTGTCTTCG	0.592000													7	131					0	0	0.278610	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													5	325					0	0	0.184627	0	0
ZRANB3	84083	broad.mit.edu	37	2	136026599	136026599	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:136026599A>G	ENST00000401392.1	-	11	1531	c.1319T>C	c.(1318-1320)gTg>gCg	p.V440A	ZRANB3_ENST00000536680.1_Missense_Mutation_p.V440A|ZRANB3_ENST00000264159.6_Missense_Mutation_p.V440A			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	440	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGAATATTCACAGAACTGCA	0.423000													8	194					0	0	0.335167	0	0
SLC25A24	29957	broad.mit.edu	37	1	108697672	108697672	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:108697672C>A	ENST00000565488.1	-	6	974	c.755G>T	c.(754-756)aGg>aTg	p.R252M	SLC25A24_ENST00000370041.4_Missense_Mutation_p.R233M	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	252					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ACCATTTCCCCTCCAAAGCGA	0.388000													4	123					0.150653	0.155513	0.150653	1	0
LPP	4026	broad.mit.edu	37	3	188584007	188584007	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr3:188584007A>G	ENST00000312675.4	+	9	1676	c.1430A>G	c.(1429-1431)aAt>aGt	p.N477S	LPP_ENST00000543006.1_Missense_Mutation_p.N477S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	477	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCAGTGCAATGTGTGTTCC	0.532000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								35	48					0	0	0.788014	0	0
BBS2	583	broad.mit.edu	37	16	56539933	56539933	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:56539933T>C	ENST00000245157.5	-	7	1153	c.733A>G	c.(733-735)Atg>Gtg	p.M245V	BBS2_ENST00000568104.1_Missense_Mutation_p.M245V|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	245					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGAATGCTCATGGCATGATTT	0.343000									Bardet-Biedl syndrome				4	76					0	0	0.150653	0	0
FBN2	2201	broad.mit.edu	37	5	127637170	127637170	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr5:127637170C>T	ENST00000508053.1	-	53	6924	c.5950G>A	c.(5950-5952)Gtg>Atg	p.V1984M	FBN2_ENST00000262464.4_Missense_Mutation_p.V1984M			P35556	FBN2_HUMAN	fibrillin 2	1984	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTCTGCACACCTGACCAAAA	0.368000													6	134					0	0	0.278610	0	0
SRPK2	6733	broad.mit.edu	37	7	104786953	104786953	+	Silent	SNP	A	A	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr7:104786953A>T	ENST00000357311.3	-	7	912	c.741T>A	c.(739-741)ccT>ccA	p.P247P	SRPK2_ENST00000393651.3_Silent_p.P258P|SRPK2_ENST00000489828.1_Silent_p.P247P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	247	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGACCCTGAAGGAGGAGGAG	0.498000													8	44					0	0	0.307466	0	0
HNF4A	3172	broad.mit.edu	37	20	43034729	43034729	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr20:43034729C>T	ENST00000316099.3	+	2	236	c.147C>T	c.(145-147)aaC>aaT	p.N49N	HNF4A_ENST00000457232.1_Silent_p.N27N|HNF4A_ENST00000443598.2_Silent_p.N49N|HNF4A_ENST00000415691.1_Silent_p.N49N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	49					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAACCTCAACGCGCCCAACA	0.627000													6	286					0	0	0.248553	0	0
DHX8	1659	broad.mit.edu	37	17	41570183	41570183	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr17:41570183G>T	ENST00000262415.3	+	6	710	c.638G>T	c.(637-639)cGg>cTg	p.R213L	DHX8_ENST00000540306.1_Missense_Mutation_p.R213L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	213	Arg/Ser-rich (RS domain).					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCCAGGACCCGGGAGAGGAAT	0.547000													55	161					8.13277e-46	8.97409e-46	0.870114	1	0
TBX5	6910	broad.mit.edu	37	12	114793765	114793765	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:114793765C>T	ENST00000310346.4	-	9	1795	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	TBX5_ENST00000349716.5_Missense_Mutation_p.A327T|TBX5_ENST00000405440.2_Missense_Mutation_p.A377T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	377					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TACATGCAAGCTTGCCGCTGT	0.602000													62	89					0	0	0.870114	0	0
MAPRE2	10982	broad.mit.edu	37	18	32677460	32677460	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:32677460T>C	ENST00000436190.2	+	4	539	c.265T>C	c.(265-267)Ttg>Ctg	p.L89L	MAPRE2_ENST00000413393.1_Silent_p.L58L|MAPRE2_ENST00000538170.2_Silent_p.L48L|MAPRE2_ENST00000588910.1_Silent_p.L101L|MAPRE2_ENST00000589699.1_Silent_p.L58L|MAPRE2_ENST00000300249.5_Silent_p.L101L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	101	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGCATTAGTTTGAAGAAAGT	0.403000													3	92					0	0	0.115264	0	0
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:66638642C>T	ENST00000393960.1	-	7	795	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393958.2_Missense_Mutation_p.A172T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622000													12	130					0	0	0.411799	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													3	21					0	0	0.150653	0	0
IGHG1	0	broad.mit.edu	37	14	106204055	106204055	+	RNA	SNP	T	T	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr14:106204055T>G	ENST00000390548.2	-	0	1243																											CCATGGCTGGTGTGTGGGGTC	0.667000													9	16					0	0	0.575678	0	0
PROC	5624	broad.mit.edu	37	2	128186036	128186036	+	Missense_Mutation	SNP	C	C	G	rs112356403		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:128186036C>G	ENST00000453608.2	+	8	1073	c.1065C>G	c.(1063-1065)atC>atG	p.I355M	PROC_ENST00000234071.3_Missense_Mutation_p.I300M|PROC_ENST00000422777.3_Missense_Mutation_p.I300M|PROC_ENST00000409048.1_Missense_Mutation_p.I334M			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	300	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAATGACATCGCACTGCTGC	0.632000													3	103					0	0	0.115264	0	0
DSC2	1824	broad.mit.edu	37	18	28662246	28662246	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:28662246T>C	ENST00000280904.6	-	9	1664	c.1221A>G	c.(1219-1221)gtA>gtG	p.V407V	DSC2_ENST00000251081.6_Silent_p.V407V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	407	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGCATCTGTTACAATTTTAA	0.308000													3	98					0	0	0.150653	0	0
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507000													6	372					0	0	0.248553	0	0
RP11-608O21.1	0	broad.mit.edu	37	4	19889191	19889191	+	RNA	DEL	C	C	-			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr4:19889191delC	ENST00000511431.1	+	0	408																											ggtgccaaaacccaggagggg	0.557													2	4	---	---	---	---					
CTD-2503O16.4	0	broad.mit.edu	37	5	74285945	74285946	+	RNA	INS	-	-	T	rs138935859		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr5:74285945_74285946insT	ENST00000505200.1	-	0	212																											taattgctttcttttttttttt	0.381													2	4	---	---	---	---					
RP11-1129I3.1	0	broad.mit.edu	37	15	56852469	56852469	+	RNA	DEL	T	T	-			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr15:56852469delT	ENST00000562300.1	-	0	439																											catttctttcttttttttttc	0.448													2	4	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													5	4	---	---	---	---					
NPIPB1P	0	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621																											CTCTTCCCCCGAAAAATGACAA	0.401													4	2	---	---	---	---