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
NOC2L	26155	broad.mit.edu	37	1	892322	892322	+	Silent	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:892322A>C	uc001abz.3	-	4	497	c.438T>G	c.(436-438)TCT>TCG	p.S146S	NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Silent_p.S146S	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	146						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCACAGGAACAGAATTCTTCT	0.597												
ATAD3C	219293	broad.mit.edu	37	1	1390849	1390849	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:1390849C>T	uc001aft.2	+	5	1383	c.388C>T	c.(388-390)CGG>TGG	p.R130W		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	130							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCAGGTCAGCCGGCGGCTCCT	0.652												
SKI	6497	broad.mit.edu	37	1	2235472	2235472	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:2235472G>A	uc001aja.3	+	4	1477	c.1405G>A	c.(1405-1407)GCG>ACG	p.A469T		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	469					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGAGACGCTGGCGCCCGTGGC	0.672												
CAMTA1	23261	broad.mit.edu	37	1	7792623	7792623	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:7792623C>T	uc001aoi.2	+	12	3237	c.3030C>T	c.(3028-3030)GGC>GGT	p.G1010G	CAMTA1_uc010nzv.1_Silent_p.G97G|CAMTA1_uc001aok.3_Silent_p.G53G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGTGGAGGCGGCAGCGGGA	0.627												
TMEM201	199953	broad.mit.edu	37	1	9661216	9661216	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:9661216C>T	uc001apz.2	+	5	672	c.660C>T	c.(658-660)CTC>CTT	p.L220L	TMEM201_uc001apy.2_Silent_p.L220L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	220	Helical; (Potential).					integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCCGTGCCCTCGCCTTCCTGG	0.662												
CLSTN1	22883	broad.mit.edu	37	1	9793524	9793524	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:9793524G>A	uc001aqh.2	-	16	3121	c.2362C>T	c.(2362-2364)CGG>TGG	p.R788W	CLSTN1_uc001aqi.2_Missense_Mutation_p.R778W|CLSTN1_uc010oag.1_Missense_Mutation_p.R769W|CLSTN1_uc001aqf.2_Missense_Mutation_p.R24W	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	788	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTAAACTTCCGGTCAAGCAAG	0.562												
UBE4B	10277	broad.mit.edu	37	1	10132092	10132092	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:10132092C>T	uc001aqs.3	+	2	744	c.31C>T	c.(31-33)CGG>TGG	p.R11W	UBE4B_uc001aqr.3_Missense_Mutation_p.R11W|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Translation_Start_Site	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	11					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTAGATTCGACGGAGGCGCCT	0.522												
PRAMEF12	390999	broad.mit.edu	37	1	12835720	12835720	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:12835720G>A	uc001aui.2	+	2	349	c.322G>A	c.(322-324)GTG>ATG	p.V108M		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	108										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCGGAATGTGGATGAGAA	0.522												
KLHDC7A	127707	broad.mit.edu	37	1	18809705	18809705	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:18809705A>G	uc001bax.2	+	1	2282	c.2230A>G	c.(2230-2232)AGG>GGG	p.R744G	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R526G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	744						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTCACCCAGGTTTGTGCC	0.652												
NBL1	4681	broad.mit.edu	37	1	19981835	19981835	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:19981835C>T	uc001bck.1	+	3	341	c.186C>T	c.(184-186)TGC>TGT	p.C62C	NBL1_uc009vpl.1_Silent_p.C63C|NBL1_uc001bcj.1_Silent_p.C98C|NBL1_uc009vpm.1_Silent_p.C63C	NM_005380	NP_005371	P41271	NBL1_HUMAN	neuroblastoma, suppression of tumorigenicity 1 2	62	CTCK.					extracellular region				ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGACAGTGCTTCAGCTACA	0.602												
USP48	84196	broad.mit.edu	37	1	22016488	22016488	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:22016488A>G	uc001bfb.2	-	24	3226	c.2988T>C	c.(2986-2988)CCT>CCC	p.P996P	USP48_uc001bfa.2_Silent_p.P482P|USP48_uc010odq.1_Silent_p.P1008P|USP48_uc009vqc.2_Silent_p.P930P|USP48_uc001bfc.2_Silent_p.P944P|USP48_uc001bfd.1_Silent_p.P121P	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	996	Ubiquitin-like.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGACAGATTCAGGAATGACGC	0.393												
EPHA8	2046	broad.mit.edu	37	1	22923860	22923860	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:22923860C>T	uc001bfx.1	+	10	1946	c.1821C>T	c.(1819-1821)CCC>CCT	p.P607P		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	607	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCCAGAGCCCCAGTTCTATG	0.642												
EPHB2	2048	broad.mit.edu	37	1	23240030	23240030	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:23240030G>A	uc009vqj.1	+	16	3073	c.2928G>A	c.(2926-2928)GCG>GCA	p.A976A	EPHB2_uc001bge.2_Silent_p.A977A|EPHB2_uc001bgf.2_Silent_p.A976A|EPHB2_uc010odu.1_Silent_p.A918A	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	976	Cytoplasmic (Potential).|SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGATGCGGGCGCAGATGAACC	0.582									Hereditary_Prostate_Cancer			
C1orf201	90529	broad.mit.edu	37	1	24685105	24685105	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:24685105C>T	uc001bjc.2	-	9	1068	c.933G>A	c.(931-933)ACG>ACA	p.T311T	C1orf201_uc010oej.1_Missense_Mutation_p.V98I|C1orf201_uc001bja.2_Silent_p.T264T|C1orf201_uc001bjb.2_Silent_p.T219T|C1orf201_uc001bjd.2_Silent_p.T311T			Q5TH74	CA201_HUMAN	RecName: Full=UPF0490 protein C1orf201;	311										ovary(1)|breast(1)	2		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		CTGGCTTGTACGTAGCTGTGA	0.458												
ZDHHC18	84243	broad.mit.edu	37	1	27179250	27179250	+	Missense_Mutation	SNP	G	G	T	rs35264488		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27179250G>T	uc001bnb.2	+	7	1038	c.943G>T	c.(943-945)GGC>TGC	p.G315C		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	315						integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GCAGATCAAAGGCTCGTGGTC	0.547											OREG0013274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NUDC	10726	broad.mit.edu	37	1	27269429	27269429	+	Missense_Mutation	SNP	G	G	A	rs148845287	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27269429G>A	uc001bng.1	+	6	730	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	NUDC_uc001bnh.1_Missense_Mutation_p.R262Q|NUDC_uc009vsq.1_Missense_Mutation_p.R179Q	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	nuclear distribution gene C homolog	205	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		ATCCAGCGGCGGCACCTCCGG	0.607												
SLC9A1	6548	broad.mit.edu	37	1	27426886	27426886	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27426886C>A	uc001bnm.2	-	12	2986	c.2360G>T	c.(2359-2361)AGC>ATC	p.S787I	SLC9A1_uc001bnl.2_Missense_Mutation_p.S291I|SLC9A1_uc010ofk.1_Missense_Mutation_p.S448I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	787	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCTCTGGGAGCTGGGGCTGTC	0.647												
EPB41	2035	broad.mit.edu	37	1	29379779	29379779	+	Silent	SNP	C	C	T	rs139530083		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:29379779C>T	uc001brm.1	+	11	1807	c.1800C>T	c.(1798-1800)GAC>GAT	p.D600D	EPB41_uc001brg.1_Silent_p.D391D|EPB41_uc001brh.1_Silent_p.D391D|EPB41_uc001bri.1_Silent_p.D565D|EPB41_uc001brj.1_Silent_p.D391D|EPB41_uc009vtk.1_Silent_p.D564D|EPB41_uc001brk.2_Silent_p.D600D|EPB41_uc001brl.1_Silent_p.D600D|EPB41_uc009vtl.1_Silent_p.D391D|EPB41_uc009vtm.1_Silent_p.D233D	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	600	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAAAGGAAGACGAGCCACCTG	0.478												
PTPRU	10076	broad.mit.edu	37	1	29585071	29585071	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:29585071T>C	uc001bru.2	+	3	370	c.260T>C	c.(259-261)GTC>GCC	p.V87A	PTPRU_uc001brv.2_Missense_Mutation_p.V87A|PTPRU_uc001brw.2_Missense_Mutation_p.V87A|PTPRU_uc009vtq.2_Missense_Mutation_p.V87A|PTPRU_uc009vtr.2_Missense_Mutation_p.V87A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	87	Extracellular (Potential).|MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGAGCCCATGTCATCTTCCAG	0.602												
HPCA	3208	broad.mit.edu	37	1	33354832	33354832	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:33354832C>T	uc001bwh.2	+	2	373	c.333C>T	c.(331-333)GAC>GAT	p.D111D		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	111	EF-hand 3.|2 (Potential).						actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATGACCTGGACGGCAACGGCT	0.602												
CSMD2	114784	broad.mit.edu	37	1	33998768	33998768	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:33998768G>T	uc001bxn.1	-	63	9650	c.9621C>A	c.(9619-9621)CCC>CCA	p.P3207P	CSMD2_uc001bxm.1_Silent_p.P3351P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3207	Sushi 26.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCCATGGAGGGCAAATCCA	0.627												
EIF2C1	26523	broad.mit.edu	37	1	36381048	36381048	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:36381048C>T	uc001bzl.2	+	15	2146	c.1933C>T	c.(1933-1935)CGT>TGT	p.R645C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R570C|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	645	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACATGGTGCGTGAGCTCCT	0.562												
EIF2C1	26523	broad.mit.edu	37	1	36384702	36384702	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:36384702G>A	uc001bzl.2	+	18	2525	c.2312G>A	c.(2311-2313)CGT>CAT	p.R771H	EIF2C1_uc001bzk.2_Missense_Mutation_p.R696H|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	771	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGACAACCGTTTCACAGCA	0.547												
EPHA10	284656	broad.mit.edu	37	1	38185131	38185131	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:38185131A>G	uc009vvi.2	-	15	2797	c.2711T>C	c.(2710-2712)GTG>GCG	p.V904A	EPHA10_uc001cbt.2_Intron|EPHA10_uc009vvh.1_Intron|EPHA10_uc001cbu.2_Intron|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	904	Cytoplasmic (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGGTCCTGCACCATCTTGCT	0.617												
EPHA10	284656	broad.mit.edu	37	1	38197252	38197252	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:38197252A>G	uc009vvi.2	-	7	1580	c.1494T>C	c.(1492-1494)GGT>GGC	p.G498G	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	498	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCACTCTGACCCTGGAGAG	0.582												
PPT1	5538	broad.mit.edu	37	1	40557020	40557020	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40557020C>T	uc001cfb.2	-	4	646	c.414G>A	c.(412-414)TCG>TCA	p.S138S	PPT1_uc010ojf.1_Silent_p.S88S|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	138					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCCCCCAACCGAGATCAGAT	0.423												
PPT1	5538	broad.mit.edu	37	1	40557753	40557753	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40557753T>C	uc001cfb.2	-	3	558	c.326A>G	c.(325-327)TAC>TGC	p.Y109C	PPT1_uc010ojf.1_Missense_Mutation_p.Y59C|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	109			Y -> D (in CLN1).		brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATAGCATTGTAGCCTTGCTG	0.388												
RLF	6018	broad.mit.edu	37	1	40702683	40702683	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40702683G>A	uc001cfc.3	+	8	2340	c.2309G>A	c.(2308-2310)CGT>CAT	p.R770H	RLF_uc001cfd.3_Missense_Mutation_p.R461H	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	770					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GACGATCTGCGTTACAAATGT	0.388												
TMCO2	127391	broad.mit.edu	37	1	40717165	40717165	+	Nonsense_Mutation	SNP	C	C	T	rs79139067		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40717165C>T	uc001cfe.2	+	2	541	c.448C>T	c.(448-450)CAA>TAA	p.Q150*		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	150	Potential.					integral to membrane				ovary(1)	1	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AATCGTTGCTCAAAAACCTGC	0.443												
PPCS	79717	broad.mit.edu	37	1	42922652	42922652	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:42922652C>T	uc001chl.2	+	1	480	c.416C>T	c.(415-417)GCG>GTG	p.A139V	ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	139					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGGAGGCTGCGGCTGCAGGC	0.627												
PTPRF	5792	broad.mit.edu	37	1	44035429	44035429	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:44035429G>A	uc001cjr.2	+	6	888	c.548G>A	c.(547-549)CGC>CAC	p.R183H	PTPRF_uc001cjq.3_Missense_Mutation_p.R183H|PTPRF_uc001cjs.2_Missense_Mutation_p.R183H|PTPRF_uc001cjt.3_Missense_Mutation_p.R183H	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	183	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCAACGGCCGCATCAAGCAG	0.587												
NRD1	4898	broad.mit.edu	37	1	52293532	52293532	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:52293532C>T	uc001ctc.3	-	7	1402	c.1080G>A	c.(1078-1080)CAG>CAA	p.Q360Q	NRD1_uc009vzb.2_Silent_p.Q55Q|NRD1_uc001ctd.3_Silent_p.Q292Q|NRD1_uc001cte.2_Silent_p.Q228Q|NRD1_uc001ctf.2_Silent_p.Q292Q|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.Q160Q	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	291					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						GGATGAAGAACTGCGCCCATC	0.353												
ORC1L	4998	broad.mit.edu	37	1	52862005	52862005	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:52862005G>A	uc001ctt.2	-	5	653	c.434C>T	c.(433-435)CCG>CTG	p.P145L	ORC1L_uc010oni.1_Missense_Mutation_p.P145L|ORC1L_uc001ctu.2_Missense_Mutation_p.P145L|ORC1L_uc009vzd.2_5'UTR	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	145	BAH.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						CAGATTCGTCGGTACCACATC	0.413												
LRP8	7804	broad.mit.edu	37	1	53729922	53729922	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:53729922G>A	uc001cvi.1	-	10	1716	c.1574C>T	c.(1573-1575)ACA>ATA	p.T525I	LRP8_uc001cvh.1_Missense_Mutation_p.T78I|LRP8_uc001cvk.1_Missense_Mutation_p.T355I|LRP8_uc001cvj.1_Missense_Mutation_p.T525I|LRP8_uc001cvl.1_Missense_Mutation_p.T396I|LRP8_uc001cvm.1_Missense_Mutation_p.T110I	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	525	LDL-receptor class B 2.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						ACCATCAACTGTGGCCACTGA	0.592												
CYB5RL	606495	broad.mit.edu	37	1	54649860	54649860	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:54649860C>T	uc009vzo.2	-	6	834	c.514G>A	c.(514-516)GGA>AGA	p.G172R	CYB5RL_uc001cww.2_5'UTR|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Missense_Mutation_p.G24R	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	172	FAD (By similarity).|FAD-binding FR-type.						cytochrome-b5 reductase activity				0						AAGAAATCTCCGAAAGGTCCT	0.502												
C1orf175	374977	broad.mit.edu	37	1	55151960	55151960	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:55151960C>T	uc010ooe.1	+	15	2874	c.2550C>T	c.(2548-2550)TCC>TCT	p.S850S	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.S418S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.S368S|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Silent_p.S850S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.S52S|C1orf175_uc001cxu.2_5'UTR	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	850						integral to membrane	binding				0						AGCTCCTGTCCGTCAACAGCT	0.652												
C1orf177	163747	broad.mit.edu	37	1	55272709	55272709	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:55272709A>G	uc001cyb.3	+	2	199	c.145A>G	c.(145-147)AGC>GGC	p.S49G	C1orf177_uc001cya.3_Missense_Mutation_p.S49G	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	49											0						GAAGAAGTTCAGCACCTTCAC	0.597												
RAVER2	55225	broad.mit.edu	37	1	65272888	65272888	+	Splice_Site	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:65272888G>A	uc001dbs.1	+	9	1451	c.1373_splice	c.e9-1	p.T458_splice	RAVER2_uc001dbt.1_Splice_Site_p.T350_splice|RAVER2_uc010opb.1_Intron	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2							cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						GTTTGCTACAGCATCTAGCCT	0.383												
JAK1	3716	broad.mit.edu	37	1	65309880	65309880	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:65309880G>A	uc001dbu.1	-	17	2519	c.2270C>T	c.(2269-2271)CCA>CTA	p.P757L	JAK1_uc009wam.1_Missense_Mutation_p.P745L|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	757	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGCAATCCATGGGATTCGTTC	0.498			Mis		ALL							
LEPR	3953	broad.mit.edu	37	1	66102113	66102113	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:66102113G>T	uc001dci.2	+	20	3115	c.2913G>T	c.(2911-2913)GAG>GAT	p.E971D	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	971	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGGTACTGAGGTAACCTATG	0.438												
IL23R	149233	broad.mit.edu	37	1	67685299	67685299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:67685299G>T	uc001ddo.2	+	7	926	c.841G>T	c.(841-843)GAA>TAA	p.E281*	IL23R_uc009waz.2_Nonsense_Mutation_p.E78*|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_Intron|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Nonsense_Mutation_p.E238*|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Nonsense_Mutation_p.E27*|IL23R_uc010opn.1_Nonsense_Mutation_p.E126*|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Nonsense_Mutation_p.E140*|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Nonsense_Mutation_p.E140*|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Nonsense_Mutation_p.E78*|IL23R_uc010opt.1_Intron|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Intron|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Nonsense_Mutation_p.E78*|IL23R_uc010opz.1_5'UTR|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Nonsense_Mutation_p.E140*|IL23R_uc010oqc.1_Nonsense_Mutation_p.E27*|IL23R_uc010oqd.1_5'UTR|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_5'UTR|IL23R_uc001dds.2_Nonsense_Mutation_p.E26*|IL23R_uc001ddt.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	281	Extracellular (Potential).|Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						GCAACAGTCAGAATTCTACTT	0.333												
DEPDC1	55635	broad.mit.edu	37	1	68947138	68947138	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:68947138C>A	uc001dem.3	-	9	2037	c.1920G>T	c.(1918-1920)ATG>ATT	p.M640I	DEPDC1_uc001dej.3_Missense_Mutation_p.M8I|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.M356I	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	640	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACCTCGTACCCATTGCATCAT	0.358												
DEPDC1	55635	broad.mit.edu	37	1	68948470	68948470	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:68948470A>T	uc001dem.3	-	8	1138	c.1021T>A	c.(1021-1023)TCA>ACA	p.S341T	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	341					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTCAGTTGATTTGAAGGAA	0.353												
PTGER3	5733	broad.mit.edu	37	1	71512610	71512610	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:71512610G>T	uc001dfg.1	-	1	882	c.651C>A	c.(649-651)AAC>AAA	p.N217K	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.N217K|PTGER3_uc001dfl.1_Missense_Mutation_p.N217K|PTGER3_uc009wbm.1_Missense_Mutation_p.N217K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.N217K|PTGER3_uc009wbn.1_Missense_Mutation_p.N217K|PTGER3_uc009wbo.2_Missense_Mutation_p.N217K|PTGER3_uc001dfo.2_Missense_Mutation_p.N217K|PTGER3_uc001dfp.1_Missense_Mutation_p.N217K|PTGER3_uc001dfq.2_Missense_Mutation_p.N217K|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	217	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	AGCTAGTCCCGTTGCCCCCTC	0.647												
PIGK	10026	broad.mit.edu	37	1	77620260	77620260	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:77620260C>T	uc001dhk.2	-	9	905	c.860G>A	c.(859-861)CGC>CAC	p.R287H	PIGK_uc010orj.1_Missense_Mutation_p.R211H|PIGK_uc009wbx.2_Missense_Mutation_p.R193H|PIGK_uc001dhl.1_Missense_Mutation_p.R287H	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	287	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						AAGATCAGTGCGATGTCCAGG	0.348												
ZZZ3	26009	broad.mit.edu	37	1	78098731	78098731	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:78098731A>T	uc001dhq.2	-	5	785	c.309T>A	c.(307-309)AAT>AAA	p.N103K	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.N103K|ZZZ3_uc001dhp.2_Missense_Mutation_p.N103K	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TTCTCTCACAATTTTCTATAG	0.383												
WDR63	126820	broad.mit.edu	37	1	85546976	85546976	+	Nonsense_Mutation	SNP	C	C	T	rs145459682	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:85546976C>T	uc001dkt.2	+	4	354	c.163C>T	c.(163-165)CGA>TGA	p.R55*	WDR63_uc009wcl.2_Nonsense_Mutation_p.R55*	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	55										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATTTAACTGCCGAATAGATGA	0.363												
WDR63	126820	broad.mit.edu	37	1	85550330	85550330	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:85550330C>T	uc001dkt.2	+	6	683	c.492C>T	c.(490-492)GGC>GGT	p.G164G	WDR63_uc009wcl.2_Silent_p.G164G	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	164										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTCTTTGGGCAGTGAAAAAG	0.373												
CLCA1	1179	broad.mit.edu	37	1	86964339	86964339	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:86964339C>T	uc001dlt.2	+	13	2327	c.2198C>T	c.(2197-2199)TCG>TTG	p.S733L		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	733					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGAACATCCTCGGGAGGCTCA	0.453												
HFM1	164045	broad.mit.edu	37	1	91851225	91851225	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:91851225T>C	uc001doa.3	-	5	761	c.661A>G	c.(661-663)ACA>GCA	p.T221A	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.T221A	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	221							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTATTTGCTGTAAACACATTT	0.343												
TGFBR3	7049	broad.mit.edu	37	1	92174326	92174326	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:92174326G>A	uc001doh.2	-	14	2647	c.2181C>T	c.(2179-2181)GAC>GAT	p.D727D	TGFBR3_uc009wde.2_Silent_p.D422D|TGFBR3_uc010osy.1_Silent_p.D685D|TGFBR3_uc001doi.2_Silent_p.D726D|TGFBR3_uc001doj.2_Silent_p.D726D	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	727	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGCAGGCTTCGTCAGGAGGCA	0.542												
BCAR3	8412	broad.mit.edu	37	1	94140238	94140238	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:94140238C>T	uc001dpz.2	-	2	524	c.249G>A	c.(247-249)TCG>TCA	p.S83S	BCAR3_uc001dqa.2_Silent_p.S83S|BCAR3_uc001dqb.2_Silent_p.S83S	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	83					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGGTCACAGGCGAGTTCTGCC	0.547												
AGL	178	broad.mit.edu	37	1	100345545	100345545	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100345545A>C	uc001dsi.1	+	13	2078	c.1678A>C	c.(1678-1680)AGT>CGT	p.S560R	AGL_uc001dsj.1_Missense_Mutation_p.S560R|AGL_uc001dsk.1_Missense_Mutation_p.S560R|AGL_uc001dsl.1_Missense_Mutation_p.S560R|AGL_uc001dsm.1_Missense_Mutation_p.S544R|AGL_uc001dsn.1_Missense_Mutation_p.S543R	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	560	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTTCACAGGAAGTGAAGATCT	0.368												
CCDC76	54482	broad.mit.edu	37	1	100608734	100608734	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100608734A>C	uc001dsv.2	+	8	730	c.711A>C	c.(709-711)AGA>AGC	p.R237S	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.R237S	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	237					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		TGTTTGAAAGACTTCAAATTG	0.299												
CDC14A	8556	broad.mit.edu	37	1	100964688	100964688	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100964688G>A	uc001dtg.3	+	15	2113	c.1625G>A	c.(1624-1626)AGC>AAC	p.S542N	CDC14A_uc010oui.1_Missense_Mutation_p.S484N|CDC14A_uc001dtf.2_Missense_Mutation_p.S542N|CDC14A_uc009wed.1_Missense_Mutation_p.S249N|CDC14A_uc009wee.2_Missense_Mutation_p.S542N	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	542					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGCAGCAACAGCAACGGGGGC	0.562												
CDC14A	8556	broad.mit.edu	37	1	100964751	100964751	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100964751C>T	uc001dtg.3	+	15	2176	c.1688C>T	c.(1687-1689)ACC>ATC	p.T563I	CDC14A_uc010oui.1_Missense_Mutation_p.T505I|CDC14A_uc001dtf.2_Missense_Mutation_p.T563I|CDC14A_uc009wed.1_Missense_Mutation_p.T270I|CDC14A_uc009wee.2_Missense_Mutation_p.T563I	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	563					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GAGCACACCACCATCCTCCGA	0.577												
DPH5	51611	broad.mit.edu	37	1	101456081	101456081	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:101456081T>C	uc001dts.2	-	8	888	c.741A>G	c.(739-741)GAA>GAG	p.E247E	DPH5_uc001dtr.2_Silent_p.E246E|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.E247E|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.T212A|DPH5_uc001dty.2_Silent_p.E126E|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	247					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AATGCAATGGTTCTCCCAAGT	0.473												
VAV3	10451	broad.mit.edu	37	1	108315356	108315356	+	Splice_Site	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:108315356C>T	uc001dvk.1	-	5	609	c.555_splice	c.e5+1	p.P185_splice	VAV3_uc010ouw.1_Splice_Site_p.P185_splice|VAV3_uc001dvl.1_Splice_Site_p.P9_splice|VAV3_uc010oux.1_Splice_Site_p.P185_splice	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAAAGTCCTACGGGCTGATGT	0.353												
CELSR2	1952	broad.mit.edu	37	1	109815573	109815573	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:109815573C>A	uc001dxa.3	+	31	8323	c.8262C>A	c.(8260-8262)GCC>GCA	p.A2754A		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2754	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		aggaggCCGCCTTCCCTGGAG	0.527												
FAM40A	85369	broad.mit.edu	37	1	110593031	110593031	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:110593031G>A	uc001dza.1	+	18	1975	c.1956G>A	c.(1954-1956)TTG>TTA	p.L652L	FAM40A_uc001dyz.1_Silent_p.L557L|FAM40A_uc009wfp.1_Silent_p.L476L	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	652						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CGGAGAGTTTGGTGAGTGGCT	0.592												
CSDE1	7812	broad.mit.edu	37	1	115261289	115261289	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:115261289G>A	uc001efk.2	-	19	2760	c.2294C>T	c.(2293-2295)GCC>GTC	p.A765V	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Missense_Mutation_p.A811V|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.A734V|CSDE1_uc001efm.2_Missense_Mutation_p.A780V|CSDE1_uc009wgv.2_Missense_Mutation_p.A765V|CSDE1_uc001efn.2_Missense_Mutation_p.A734V	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	765					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		AGGAGCACTGGCATCATCCAG	0.507												
SV2A	9900	broad.mit.edu	37	1	149885257	149885257	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:149885257A>G	uc001etg.2	-	2	627	c.136T>C	c.(136-138)TAC>CAC	p.Y46H	SV2A_uc001eth.2_Missense_Mutation_p.Y46H	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	46	Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAGCGGGAGTACGATCTTCGG	0.542												
OTUD7B	56957	broad.mit.edu	37	1	149949436	149949436	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:149949436C>T	uc001etn.2	-	2	366	c.10G>A	c.(10-12)GAC>AAC	p.D4N		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	4					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCATCCATGTCCAGGGTCATG	0.478												
RFX5	5993	broad.mit.edu	37	1	151316303	151316303	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:151316303G>A	uc001exv.1	-	9	825	c.611C>T	c.(610-612)GCG>GTG	p.A204V	RFX5_uc001exw.1_Missense_Mutation_p.A204V|RFX5_uc009wmr.1_Missense_Mutation_p.A204V|RFX5_uc010pcx.1_Missense_Mutation_p.A164V	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	204						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGGCACACGCTGCCTCCAC	0.552												
MRPL9	65005	broad.mit.edu	37	1	151733319	151733319	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:151733319C>T	uc001eyv.2	-	6	730	c.645G>A	c.(643-645)CGG>CGA	p.R215R	MRPL9_uc009wmz.2_RNA	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9 precursor	215					translation	mitochondrial ribosome	structural constituent of ribosome			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCGCCCCACCGTGTGATAG	0.368												
THEM4	117145	broad.mit.edu	37	1	151849481	151849481	+	Silent	SNP	C	C	T	rs146012344		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:151849481C>T	uc001ezj.1	-	5	857	c.678G>A	c.(676-678)GCG>GCA	p.A226A	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	226					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTACTTGTCGCCTCTGAGT	0.353												
FLG	2312	broad.mit.edu	37	1	152278793	152278793	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:152278793G>A	uc001ezu.1	-	3	8605	c.8569C>T	c.(8569-8571)CGT>TGT	p.R2857C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2857	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGACGCGACCCTGAG	0.572									Ichthyosis			
SLC39A1	27173	broad.mit.edu	37	1	153932722	153932722	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:153932722T>C	uc001fdh.2	-	4	996	c.827A>G	c.(826-828)GAG>GGG	p.E276G	CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.E276G|SLC39A1_uc001fdj.2_Missense_Mutation_p.E276G|SLC39A1_uc001fdk.2_Missense_Mutation_p.E276G|SLC39A1_uc010pee.1_Missense_Mutation_p.E174G|SLC39A1_uc001fdl.2_Missense_Mutation_p.E276G	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	276	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TGCCATGCCCTCTAGCACAGA	0.577												
SLC39A1	27173	broad.mit.edu	37	1	153934820	153934820	+	Missense_Mutation	SNP	C	C	T	rs61755890	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:153934820C>T	uc001fdh.2	-	3	363	c.194G>A	c.(193-195)CGC>CAC	p.R65H	SLC39A1_uc001fdi.2_Missense_Mutation_p.R65H|SLC39A1_uc001fdj.2_Missense_Mutation_p.R65H|SLC39A1_uc001fdk.2_Missense_Mutation_p.R65H|SLC39A1_uc010pee.1_Intron|SLC39A1_uc001fdl.2_Missense_Mutation_p.R65H	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	65	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GGCTTTCTGGCGGGAAGCTGG	0.587												
ZBTB7B	51043	broad.mit.edu	37	1	154987844	154987844	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:154987844G>T	uc001fgk.3	+	3	866	c.708G>T	c.(706-708)GAG>GAT	p.E236D	ZBTB7B_uc009wpa.2_Missense_Mutation_p.E236D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E270D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E270D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E236D	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	236					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATGAGGAGGAGGAGGTGGCGG	0.662												
ADAM15	8751	broad.mit.edu	37	1	155030333	155030333	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155030333C>A	uc001fgr.1	+	14	1524	c.1423C>A	c.(1423-1425)CCG>ACG	p.P475T	ADAM15_uc001fgq.1_Missense_Mutation_p.P160T|ADAM15_uc010pet.1_Missense_Mutation_p.P459T|ADAM15_uc010peu.1_Missense_Mutation_p.P492T|ADAM15_uc001fgt.1_Missense_Mutation_p.P475T|ADAM15_uc010pev.1_Missense_Mutation_p.P485T|ADAM15_uc001fgs.1_Missense_Mutation_p.P475T|ADAM15_uc001fgu.1_Missense_Mutation_p.P475T|ADAM15_uc001fgw.1_Missense_Mutation_p.P475T|ADAM15_uc001fgv.1_Missense_Mutation_p.P475T|ADAM15_uc001fgx.1_Missense_Mutation_p.P475T|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	475	Disintegrin.|Extracellular (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACAGCTGCGCCCGTCTGGCTG	0.617												
SYT11	23208	broad.mit.edu	37	1	155837764	155837764	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155837764C>T	uc001fmg.2	+	2	306	c.43C>T	c.(43-45)CCG>TCG	p.P15S	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	15	Vesicular (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGATGTGTCACCGGTGGTGGC	0.597												
ARHGEF2	9181	broad.mit.edu	37	1	155939051	155939051	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155939051C>T	uc001fmt.2	-	2	222	c.104G>A	c.(103-105)CGC>CAC	p.R35H	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R8H|ARHGEF2_uc001fms.2_Missense_Mutation_p.R35H|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R80H|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R8H|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R80H	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	35					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATTGGTATAGCGGGCATCCTT	0.537												
TMEM79	84283	broad.mit.edu	37	1	156256115	156256115	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156256115G>A	uc010phi.1	+	3	1018	c.822G>A	c.(820-822)CGG>CGA	p.R274R	TMEM79_uc001fod.2_Silent_p.R115R|TMEM79_uc009wrw.2_Silent_p.R274R	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	274						integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					GGGAGCCACGGCGGGAGGTGG	0.582												
TTC24	164118	broad.mit.edu	37	1	156552170	156552170	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156552170C>T	uc009wsc.1	+	1	154	c.14C>T	c.(13-15)GCC>GTC	p.A5V		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	285	TPR 6.						binding			pancreas(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCACAATGCCCTCGGCAAC	0.632												
ISG20L2	81875	broad.mit.edu	37	1	156696887	156696887	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156696887C>T	uc001fps.1	-	1	819	c.558G>A	c.(556-558)ATG>ATA	p.M186I	ISG20L2_uc001fpt.1_Missense_Mutation_p.M186I|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	186	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTGCCCACCATCTCACAGT	0.502											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HDGF	3068	broad.mit.edu	37	1	156714103	156714103	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156714103G>T	uc001fpy.3	-	4	663	c.341C>A	c.(340-342)CCA>CAA	p.P114Q	HDGF_uc009wsd.2_Missense_Mutation_p.P82Q|HDGF_uc001fpz.3_Missense_Mutation_p.P107Q|HDGF_uc009wse.2_Missense_Mutation_p.P130Q|HDGF_uc010phr.1_Missense_Mutation_p.P137Q|HDGF_uc009wsf.2_Missense_Mutation_p.P82Q|HDGF_uc009wsg.2_Missense_Mutation_p.P114Q	NM_004494	NP_004485	P51858	HDGF_HUMAN	hepatoma-derived growth factor isoform a	114	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			lung(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TTCGGGCTCTGGTTCAGGCTC	0.607												
PRCC	5546	broad.mit.edu	37	1	156767101	156767101	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156767101C>T	uc001fqa.2	+	6	1647	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	PRCC_uc001fqb.2_Missense_Mutation_p.R421W	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	453					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGCAGCGGCGGAAACACCA	0.468			T	TFE3	papillary renal 						OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
INSRR	3645	broad.mit.edu	37	1	156823941	156823941	+	Silent	SNP	G	G	A	rs149908610		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156823941G>A	uc010pht.1	-	2	494	c.240C>T	c.(238-240)ACC>ACT	p.T80T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Silent_p.T80T	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	80					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGGTAGTCGGTGACCTGGG	0.647												
ARHGEF11	9826	broad.mit.edu	37	1	156909626	156909626	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156909626G>A	uc001fqo.2	-	36	4730	c.3690C>T	c.(3688-3690)CCC>CCT	p.P1230P	ARHGEF11_uc010phu.1_Silent_p.P646P|ARHGEF11_uc001fqn.2_Silent_p.P1270P	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1230					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTCGTCCTCGGGCTCCTGGG	0.632												
FCRL3	115352	broad.mit.edu	37	1	157668338	157668338	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:157668338C>T	uc001frb.2	-	4	426	c.134G>A	c.(133-135)AGC>AAC	p.S45N	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S45N|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.S45N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	45	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGATATGCTGCTGCATATGAG	0.443												
KLHDC9	126823	broad.mit.edu	37	1	161069416	161069416	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:161069416T>C	uc001fxr.2	+	3	888	c.716T>C	c.(715-717)ATG>ACG	p.M239T	KLHDC9_uc001fxq.2_Missense_Mutation_p.M1T|KLHDC9_uc001fxs.2_Silent_p.D245D	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	kelch/ankyrin repeat containing cyclin A1	239											0	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTCATTTGATGGAACAGCTT	0.542												
RGS4	5999	broad.mit.edu	37	1	163043401	163043401	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:163043401G>A	uc009wuy.2	+	4	878	c.367G>A	c.(367-369)GCA>ACA	p.A123T	RGS4_uc001gcl.3_Missense_Mutation_p.A220T|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Missense_Mutation_p.A105T	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	123	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						CTCAGTCCAGGCAACCAAAGA	0.234												
SLC9A11	284525	broad.mit.edu	37	1	173545802	173545802	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:173545802A>G	uc001giz.2	-	8	1323	c.900T>C	c.(898-900)ACT>ACC	p.T300T	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	300					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AAACTTACTTAGTAATTACAA	0.403												
RC3H1	149041	broad.mit.edu	37	1	173950010	173950010	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:173950010C>T	uc001gju.3	-	5	993	c.906G>A	c.(904-906)CAG>CAA	p.Q302Q	RC3H1_uc010pms.1_Silent_p.Q302Q|RC3H1_uc001gjv.2_Silent_p.Q302Q|RC3H1_uc010pmt.1_Silent_p.Q302Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	302					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AAGAGGACCACTGGTCCGGTG	0.433												
TNN	63923	broad.mit.edu	37	1	175048557	175048557	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:175048557C>T	uc001gkl.1	+	3	611	c.498C>T	c.(496-498)TGC>TGT	p.C166C	TNN_uc010pmx.1_Silent_p.C166C	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	166					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCCGCCTGCGAGCGGCTGG	0.726												
SOAT1	6646	broad.mit.edu	37	1	179314166	179314166	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:179314166A>C	uc001gml.2	+	11	1135	c.1072A>C	c.(1072-1074)AGC>CGC	p.S358R	SOAT1_uc010pni.1_Missense_Mutation_p.S293R|SOAT1_uc001gmm.2_Missense_Mutation_p.S300R|SOAT1_uc010pnj.1_Missense_Mutation_p.S94R|SOAT1_uc010pnk.1_Missense_Mutation_p.S293R	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	358					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGAGCCCTTCAGCGCTCGTGT	0.413												
C1orf125	126859	broad.mit.edu	37	1	179364323	179364323	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:179364323G>A	uc001gmo.2	+	11	1222	c.1095G>A	c.(1093-1095)GCG>GCA	p.A365A	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Silent_p.A153A|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.A365A	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	365	Potential.										0						TTTTAAATGCGGAAAAGAATG	0.348												
DHX9	1660	broad.mit.edu	37	1	182853799	182853799	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:182853799G>T	uc001gpr.2	+	27	3475	c.3312G>T	c.(3310-3312)CGG>CGT	p.R1104R	DHX9_uc001gps.2_Silent_p.R890R|DHX9_uc001gpt.2_Silent_p.R383R|DHX9_uc009wyd.2_Silent_p.R69R	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1104					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						CTGGTCTCCGGGCAGCCATGG	0.433												
HMCN1	83872	broad.mit.edu	37	1	185833648	185833648	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:185833648C>A	uc001grq.1	+	3	615	c.386C>A	c.(385-387)GCC>GAC	p.A129D		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	129	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATAAAAATTGCCTTGGAAATT	0.403												
F13B	2165	broad.mit.edu	37	1	197026324	197026324	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:197026324T>C	uc001gtt.1	-	7	1034	c.990A>G	c.(988-990)GGA>GGG	p.G330G		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	330					blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CCTTCTCCTGTCCTTCTGAAA	0.383												
ASPM	259266	broad.mit.edu	37	1	197094202	197094202	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:197094202C>T	uc001gtu.2	-	11	3313	c.3056G>A	c.(3055-3057)CGA>CAA	p.R1019Q	ASPM_uc001gtv.2_Missense_Mutation_p.R1019Q|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1019	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTCAATTCCTCGTGATTTAAG	0.373												
NAV1	89796	broad.mit.edu	37	1	201682022	201682022	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:201682022C>A	uc001gwu.2	+	2	1182	c.835C>A	c.(835-837)CTG>ATG	p.L279M		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	279	Potential.				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CATGTCCAGCCTGCGAGGGTC	0.607												
NAV1	89796	broad.mit.edu	37	1	201780773	201780773	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:201780773C>T	uc001gwu.2	+	24	5178	c.4831C>T	c.(4831-4833)CGG>TGG	p.R1611W	NAV1_uc001gwx.2_Missense_Mutation_p.R1220W	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1614					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCAGATAGACCGGGAAACAGG	0.517												
TIMM17A	10440	broad.mit.edu	37	1	201926416	201926416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:201926416C>T	uc001gxc.2	+	2	70	c.34C>T	c.(34-36)CGA>TGA	p.R12*		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	12					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						TAGCCCATGGCGAATTGTGGA	0.413												
PPP1R12B	4660	broad.mit.edu	37	1	202386024	202386024	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:202386024G>A	uc001gya.1	+	2	545	c.401G>A	c.(400-402)TGT>TAT	p.C134Y	PPP1R12B_uc001gxy.2_Missense_Mutation_p.C134Y|PPP1R12B_uc009xad.1_Translation_Start_Site|PPP1R12B_uc009xae.1_Missense_Mutation_p.C134Y|PPP1R12B_uc001gxz.1_Missense_Mutation_p.C134Y	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	134	ANK 3.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAGCTTCCTGTGGCTATCTC	0.448												
KLHL12	59349	broad.mit.edu	37	1	202894275	202894275	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:202894275C>T	uc001gyo.1	-	2	216	c.16G>A	c.(16-18)GCC>ACC	p.A6T	KLHL12_uc010pqc.1_Missense_Mutation_p.A44T|KLHL12_uc009xah.1_Missense_Mutation_p.A6T	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	6					Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTTTGGGGGCCATAATGCCT	0.408												
NFASC	23114	broad.mit.edu	37	1	204948564	204948564	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:204948564G>A	uc001hbj.2	+	19	2381	c.2053G>A	c.(2053-2055)GTT>ATT	p.V685I	NFASC_uc010pra.1_Missense_Mutation_p.V681I|NFASC_uc001hbi.2_Missense_Mutation_p.V681I|NFASC_uc010prb.1_Missense_Mutation_p.V696I|NFASC_uc010prc.1_Missense_Mutation_p.V252I|NFASC_uc001hbk.1_Missense_Mutation_p.V491I|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	685	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCCGGCAGCGTTAACTCAGC	0.572												
IKBKE	9641	broad.mit.edu	37	1	206648304	206648304	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:206648304G>A	uc001hdz.1	+	5	693	c.325G>A	c.(325-327)GAG>AAG	p.E109K	IKBKE_uc009xbu.1_Missense_Mutation_p.E109K|IKBKE_uc009xbv.1_Missense_Mutation_p.E109K|IKBKE_uc001hea.1_Missense_Mutation_p.E24K	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	109	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					TGGGCTGCCTGAGGATGAGTT	0.632												
PFKFB2	5208	broad.mit.edu	37	1	207236057	207236057	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:207236057C>A	uc001hfg.2	+	4	413	c.304C>A	c.(304-306)CGC>AGC	p.R102S	PFKFB2_uc010psc.1_Missense_Mutation_p.R4S|PFKFB2_uc001hfh.2_Missense_Mutation_p.R102S|PFKFB2_uc009xcc.2_Missense_Mutation_p.R60S|PFKFB2_uc010psd.1_5'Flank	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	102	6-phosphofructo-2-kinase.	Fructose-6-phosphate (By similarity).			fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					CATGAAGATCCGCAAGTGAGT	0.468												
CR1	1378	broad.mit.edu	37	1	207789961	207789961	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:207789961C>T	uc001hfy.2	+	33	5493	c.5353C>T	c.(5353-5355)CAC>TAC	p.H1785Y	CR1_uc001hfx.2_Missense_Mutation_p.H2235Y	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1785	Sushi 28.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TAATGGGAGACACACAGGAAC	0.408												
CD34	947	broad.mit.edu	37	1	208062131	208062131	+	Missense_Mutation	SNP	T	T	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:208062131T>A	uc001hgw.1	-	7	1126	c.868A>T	c.(868-870)ACC>TCC	p.T290S	CD34_uc001hgv.1_Missense_Mutation_p.T132S|CD34_uc001hgx.1_Missense_Mutation_p.T290S|CD34_uc010psj.1_Missense_Mutation_p.T155S	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	290	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						GCAATCAGGGTCTTTTGGGAA	0.527												
PLXNA2	5362	broad.mit.edu	37	1	208390710	208390710	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:208390710C>A	uc001hgz.2	-	2	1316	c.558G>T	c.(556-558)ACG>ACT	p.T186T	PLXNA2_uc001hha.3_Silent_p.T240T	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	186	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CATCCACAGCCGTGCCGATGA	0.587												
HHAT	55733	broad.mit.edu	37	1	210536201	210536201	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:210536201G>A	uc009xcx.2	+	3	263	c.97G>A	c.(97-99)GAA>AAA	p.E33K	HHAT_uc010psq.1_Missense_Mutation_p.E33K|HHAT_uc001hhz.3_Missense_Mutation_p.E33K|HHAT_uc010psr.1_Missense_Mutation_p.E34K|HHAT_uc010pss.1_Intron|HHAT_uc009xcy.2_Missense_Mutation_p.E33K|HHAT_uc010pst.1_Intron|HHAT_uc010psu.1_Missense_Mutation_p.E33K	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCAGAACACGAAGAGGAGCT	0.398												
KCNH1	3756	broad.mit.edu	37	1	211192138	211192138	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:211192138C>T	uc001hib.2	-	6	1189	c.1019G>A	c.(1018-1020)GGG>GAG	p.G340E	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	340	Extracellular (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACTCTCTCTCCCCTCCAGTGG	0.438												
CENPF	1063	broad.mit.edu	37	1	214815734	214815734	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:214815734T>C	uc001hkm.2	+	12	4227	c.4053T>C	c.(4051-4053)GAT>GAC	p.D1351D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TATTAAATGATGACAGTGGTC	0.408												
KCTD3	51133	broad.mit.edu	37	1	215785202	215785202	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:215785202A>G	uc001hks.2	+	15	1795	c.1501A>G	c.(1501-1503)ATC>GTC	p.I501V	KCTD3_uc001hkt.2_Missense_Mutation_p.I501V|KCTD3_uc010pub.1_Missense_Mutation_p.I399V|KCTD3_uc009xdn.2_Missense_Mutation_p.I225V	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	501						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ACAGGTGTTTATCCAGAAAGT	0.308												
SUSD4	55061	broad.mit.edu	37	1	223396620	223396620	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:223396620G>A	uc001hnx.2	-	7	2049	c.1415C>T	c.(1414-1416)TCC>TTC	p.S472F	SUSD4_uc001hny.3_Missense_Mutation_p.S472F|SUSD4_uc010puw.1_Missense_Mutation_p.S312F	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	472	Cytoplasmic (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		TGGGCTGGTGGATGCCACCTC	0.587												
OBSCN	84033	broad.mit.edu	37	1	228550291	228550291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:228550291C>T	uc009xez.1	+	80	18720	c.18676C>T	c.(18676-18678)CGA>TGA	p.R6226*	OBSCN_uc001hsr.1_Nonsense_Mutation_p.R855*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6226					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CACCCTGGAGCGAGCGGACCA	0.677												
TRIM11	81559	broad.mit.edu	37	1	228584848	228584848	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:228584848G>A	uc001hss.2	-	4	1009	c.754C>T	c.(754-756)CGC>TGC	p.R252C	TRIM11_uc010pvx.1_Missense_Mutation_p.R251C|TRIM11_uc001hst.1_Missense_Mutation_p.R252C	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	252					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				TCGTACCTGCGCAGGGCGTCC	0.652												
GALNT2	2590	broad.mit.edu	37	1	230372444	230372444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:230372444C>T	uc010pwa.1	+	6	652	c.580C>T	c.(580-582)CGA>TGA	p.R194*	GALNT2_uc010pvy.1_Nonsense_Mutation_p.R156*|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	194	Lumenal (Potential).|Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGAAAGTGCGAGTTCTTAG	0.403												
TTC13	79573	broad.mit.edu	37	1	231067185	231067185	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:231067185A>G	uc001huf.3	-	11	1190	c.1159T>C	c.(1159-1161)TGC>CGC	p.C387R	TTC13_uc009xfi.2_Missense_Mutation_p.C334R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.C334R|TTC13_uc009xfk.1_Missense_Mutation_p.C277R	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	387	TPR 7.						binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATACTGGCACACTTCATTA	0.413												
EXOC8	149371	broad.mit.edu	37	1	231472660	231472660	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:231472660C>T	uc001huq.2	-	1	919	c.832G>A	c.(832-834)GAG>AAG	p.E278K		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	278	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTGGTGTCCTCCAGCACTTCC	0.577												
LYST	1130	broad.mit.edu	37	1	235884029	235884029	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:235884029A>G	uc001hxj.2	-	40	9667	c.9492T>C	c.(9490-9492)CCT>CCC	p.P3164P	LYST_uc001hxi.2_Silent_p.P388P	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3164	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGGGAACACAGGATACTGCA	0.363									Chediak-Higashi_syndrome			
HEATR1	55127	broad.mit.edu	37	1	236721600	236721600	+	Missense_Mutation	SNP	G	G	A	rs143495736	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:236721600G>A	uc001hyd.1	-	36	5266	c.5141C>T	c.(5140-5142)GCG>GTG	p.A1714V	HEATR1_uc009xgh.1_Missense_Mutation_p.A876V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1714					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACAGCAGCGCGCTTCCCAG	0.562												
FMN2	56776	broad.mit.edu	37	1	240256069	240256069	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:240256069G>A	uc010pyd.1	+	1	885	c.660G>A	c.(658-660)CAG>CAA	p.Q220Q	FMN2_uc010pye.1_Silent_p.Q220Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	220	Potential.|Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			tccagcaacagcagcagcagc	0.468												
CEP170	9859	broad.mit.edu	37	1	243349656	243349656	+	Missense_Mutation	SNP	G	G	A	rs151038677	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:243349656G>A	uc001hzs.2	-	9	1585	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C	CEP170_uc001hzt.2_Missense_Mutation_p.R393C|CEP170_uc001hzu.2_Missense_Mutation_p.R393C	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	393						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGAGTTGCACGTTTGCTACAG	0.438												
AKT3	10000	broad.mit.edu	37	1	243809301	243809301	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:243809301C>A	uc001iab.1	-	4	404	c.323G>T	c.(322-324)AGA>ATA	p.R108I	AKT3_uc001hzz.1_Missense_Mutation_p.R108I	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	108					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCTCTGCAGTCTGTCTGCTAC	0.363												
KIF26B	55083	broad.mit.edu	37	1	245583006	245583006	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:245583006G>A	uc001ibf.1	+	4	1565	c.1125G>A	c.(1123-1125)GAG>GAA	p.E375E	KIF26B_uc010pyq.1_Silent_p.E375E	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	375					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGCCAGCGAGACTTCCACAG	0.602												
SMYD3	64754	broad.mit.edu	37	1	245912889	245912889	+	Silent	SNP	G	G	A	rs139195102	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:245912889G>A	uc001ibl.2	-	12	1358	c.1263C>T	c.(1261-1263)TGC>TGT	p.C421C	SMYD3_uc001ibk.2_Silent_p.C362C|SMYD3_uc001ibi.2_3'UTR|SMYD3_uc001ibj.2_Silent_p.C232C	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	421						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TGTTGGCGTCGCATTCTTCTA	0.433												
OR2M3	127062	broad.mit.edu	37	1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	rs147728074	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:248367150C>T	uc010pzg.1	+	1	781	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502												
ZMYND11	10771	broad.mit.edu	37	10	298288	298288	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:298288T>C	uc010pzt.1	+	15	2115	c.1687T>C	c.(1687-1689)TGC>CGC	p.C563R	ZMYND11_uc010pzu.1_Missense_Mutation_p.C563R|ZMYND11_uc010pzv.1_Missense_Mutation_p.C508R|ZMYND11_uc010pzw.1_Missense_Mutation_p.C478R|ZMYND11_uc001ifm.2_Missense_Mutation_p.C509R|ZMYND11_uc009xhg.2_Missense_Mutation_p.C546R|ZMYND11_uc009xhh.2_Missense_Mutation_p.C437R|ZMYND11_uc010pzy.1_Missense_Mutation_p.C415R	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	523	MYND-type.|Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTACCTGCAGTGCTACAACTG	0.512												
TUBAL3	79861	broad.mit.edu	37	10	5443015	5443015	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:5443015G>A	uc001ihy.2	-	2	79	c.39C>T	c.(37-39)GGC>GGT	p.G13G	TUBAL3_uc001ihz.2_Intron	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	13					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						CAATCTGGATGCCAGCTTGAC	0.463												
FAM171A1	221061	broad.mit.edu	37	10	15255359	15255359	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:15255359C>A	uc001iob.2	-	8	2235	c.2228G>T	c.(2227-2229)GGC>GTC	p.G743V		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	743	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CATATCTACGCCAGAGTCCAA	0.507												
ARHGAP21	57584	broad.mit.edu	37	10	24909067	24909067	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:24909067A>T	uc001isb.2	-	9	2244	c.1757T>A	c.(1756-1758)ATT>AAT	p.I586N	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.I586N|ARHGAP21_uc010qdc.1_Missense_Mutation_p.I421N|ARHGAP21_uc001isc.1_Missense_Mutation_p.I576N	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	585					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						ATCTGGTGGAATTTTTTTAAA	0.423												
WAC	51322	broad.mit.edu	37	10	28905168	28905168	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:28905168A>G	uc001iuf.2	+	12	1708	c.1623A>G	c.(1621-1623)ACA>ACG	p.T541T	WAC_uc001iud.2_Silent_p.T496T|WAC_uc001iue.2_Silent_p.T231T|WAC_uc001iug.2_Silent_p.T438T|WAC_uc001iuh.2_Silent_p.T492T	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	541					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						CAAATGCAACAGTTGTACCAC	0.408												
KIAA1462	57608	broad.mit.edu	37	10	30316027	30316027	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:30316027G>A	uc001iux.2	-	2	3109	c.3050C>T	c.(3049-3051)GCG>GTG	p.A1017V	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A879V|KIAA1462_uc009xle.1_Missense_Mutation_p.A1017V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1017										ovary(4)	4						CCGAGGGACCGCTTCACTTGG	0.572												
RBP3	5949	broad.mit.edu	37	10	48388083	48388083	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:48388083G>A	uc001jez.2	-	1	2909	c.2795C>T	c.(2794-2796)GCT>GTT	p.A932V		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	932	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGCACGCAGAGCCACTATGTC	0.627												
RBP3	5949	broad.mit.edu	37	10	48389980	48389980	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:48389980C>T	uc001jez.2	-	1	1012	c.898G>A	c.(898-900)GGG>AGG	p.G300R		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	300	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGCAGCACCCCGCTGCCCTCC	0.677												
OGDHL	55753	broad.mit.edu	37	10	50945994	50945994	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:50945994G>A	uc001jie.2	-	19	2658	c.2516C>T	c.(2515-2517)CCG>CTG	p.P839L	OGDHL_uc009xog.2_Missense_Mutation_p.P866L|OGDHL_uc010qgt.1_Missense_Mutation_p.P782L|OGDHL_uc010qgu.1_Missense_Mutation_p.P630L	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	839					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GAGACTCACCGGCTTGCGGAA	0.632												
AGAP7	653268	broad.mit.edu	37	10	51465266	51465266	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:51465266G>A	uc001jio.2	-	7	1316	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	397	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						AAAGTGCCACGTTTGGCCAGT	0.522												
SIRT1	23411	broad.mit.edu	37	10	69647248	69647248	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:69647248C>A	uc001jnd.2	+	2	557	c.504C>A	c.(502-504)GCC>GCA	p.A168A	SIRT1_uc010qis.1_5'UTR|SIRT1_uc009xpp.2_5'UTR	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	168	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						AGGATAGAGCCTCACATGCAA	0.398												
HERC4	26091	broad.mit.edu	37	10	69692445	69692445	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:69692445C>T	uc001jng.3	-	24	3082	c.2771G>A	c.(2770-2772)TGT>TAT	p.C924Y	HERC4_uc009xpq.2_Missense_Mutation_p.C456Y|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.C916Y|HERC4_uc009xpr.2_Missense_Mutation_p.C846Y|HERC4_uc001jni.3_Missense_Mutation_p.C660Y	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	924	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TTTTCCTCCACAGACCTTATG	0.388												
MYPN	84665	broad.mit.edu	37	10	69934351	69934351	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:69934351G>A	uc001jnm.3	+	12	2687	c.2502G>A	c.(2500-2502)CTG>CTA	p.L834L	MYPN_uc001jnn.3_Silent_p.L559L|MYPN_uc001jno.3_Silent_p.L834L|MYPN_uc009xpt.2_Silent_p.L834L|MYPN_uc010qit.1_Silent_p.L540L|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	834	Pro-rich.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						GCTCTGTTCTGCCTTCTCTCC	0.537												
STOX1	219736	broad.mit.edu	37	10	70645650	70645650	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:70645650G>A	uc001jos.2	+	3	2185	c.2098G>A	c.(2098-2100)GTC>ATC	p.V700I	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.V590I	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	700						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						AAAAGGATTTGTCCAGGATGC	0.423												
CDH23	64072	broad.mit.edu	37	10	73405682	73405682	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:73405682G>A	uc001jrx.3	+	12	1612	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	CDH23_uc001jrw.3_Missense_Mutation_p.R412H|CDH23_uc001jry.2_Missense_Mutation_p.R28H|CDH23_uc001jrz.2_Missense_Mutation_p.R28H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	412	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCGGACATTCGTATTCGGGTG	0.587												
DLG5	9231	broad.mit.edu	37	10	79576336	79576336	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:79576336G>A	uc001jzk.2	-	20	4068	c.3998C>T	c.(3997-3999)GCG>GTG	p.A1333V	DLG5_uc001jzi.2_Missense_Mutation_p.A88V|DLG5_uc001jzj.2_Missense_Mutation_p.A748V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A937V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1333					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCCGAGGGACGCGGGGTTGAC	0.627												
NRG3	10718	broad.mit.edu	37	10	83635280	83635280	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:83635280C>T	uc001kco.2	+	1	211	c.184C>T	c.(184-186)CGG>TGG	p.R62W	NRG3_uc010qlz.1_Missense_Mutation_p.R62W|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	62	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CGTGTGGAACCGGCAGCAGAC	0.493												
GRID1	2894	broad.mit.edu	37	10	87484278	87484278	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:87484278G>A	uc001kdl.1	-	11	1790	c.1689C>T	c.(1687-1689)TTC>TTT	p.F563F	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.F134F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	563	Helical; (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CCCACACAGCGAAATCAAATG	0.507										Multiple Myeloma(13;0.14)		
MMRN2	79812	broad.mit.edu	37	10	88705369	88705369	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:88705369G>A	uc001kea.2	-	2	369	c.242C>T	c.(241-243)TCG>TTG	p.S81L	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Intron	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	81	EMI.					extracellular space				large_intestine(1)	1						CGGCTGCTGCGAGTGGATGAG	0.562												
FAM22A	728118	broad.mit.edu	37	10	88985930	88985930	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:88985930G>A	uc001kek.2	+	1	726	c.343G>A	c.(343-345)GTG>ATG	p.V115M	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	115											0						CCAGACAGCGGTGGTCAGTGC	0.532												
LIPF	8513	broad.mit.edu	37	10	90428385	90428385	+	Silent	SNP	G	G	A	rs140420172		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:90428385G>A	uc001kfg.1	+	4	460	c.294G>A	c.(292-294)CCG>CCA	p.P98P	LIPF_uc009xtk.2_Silent_p.P98P|LIPF_uc001kfh.1_Intron|LIPF_uc010qmt.1_Silent_p.P108P|LIPF_uc010qmu.1_Intron	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	98					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CCAACCTGCCGAACAACAGCC	0.453												
BTAF1	9044	broad.mit.edu	37	10	93784688	93784688	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:93784688G>A	uc001khr.2	+	35	5137	c.5039G>A	c.(5038-5040)AGC>AAC	p.S1680N		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1680	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TTAGATGGCAGCATACCTCCT	0.388												
CYP26A1	1592	broad.mit.edu	37	10	94834191	94834191	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:94834191C>T	uc001kil.2	+	2	361	c.316C>T	c.(316-318)CGG>TGG	p.R106W	CYP26A1_uc001kik.1_Missense_Mutation_p.R37W|CYP26A1_uc001kim.1_Silent_p.T10T	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	106					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CGGAGAGCACCGGCTGGTGTC	0.622												
SLIT1	6585	broad.mit.edu	37	10	98803215	98803215	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:98803215G>A	uc001kmw.2	-	19	2161	c.1909C>T	c.(1909-1911)CGC>TGC	p.R637C	SLIT1_uc009xvh.1_Missense_Mutation_p.R647C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	637					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGGACGTTGCGCAGGCCCGTG	0.642												
RRP12	23223	broad.mit.edu	37	10	99130743	99130743	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:99130743G>A	uc001knf.2	-	21	2578	c.2439C>T	c.(2437-2439)CAC>CAT	p.H813H	RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Silent_p.H531H|RRP12_uc010qou.1_Silent_p.H752H|RRP12_uc009xvn.2_Silent_p.H713H	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	813						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGTCCTCCAGGTGGCTCTGCA	0.677												
NKX2-3	159296	broad.mit.edu	37	10	101292889	101292889	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:101292889A>G	uc009xwj.2	+	1	200	c.1A>G	c.(1-3)ATG>GTG	p.M1V	uc001kps.1_5'Flank	NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	1						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		AGTGGCCCTGATGATGTTACC	0.597												
DNMBP	23268	broad.mit.edu	37	10	101643927	101643927	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:101643927G>T	uc001kqj.2	-	15	3930	c.3838C>A	c.(3838-3840)CTC>ATC	p.L1280I	DNMBP_uc010qpl.1_Missense_Mutation_p.L216I|DNMBP_uc001kqg.2_Missense_Mutation_p.L568I|DNMBP_uc001kqh.2_Missense_Mutation_p.L912I	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1280					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGGCCAGGAGGGAGGCCCGG	0.502												
PKD2L1	9033	broad.mit.edu	37	10	102055890	102055890	+	Missense_Mutation	SNP	C	C	T	rs149093514	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:102055890C>T	uc001kqx.1	-	7	1728	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	PKD2L1_uc009xwm.1_Missense_Mutation_p.A402T	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	449	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TTGATCCAGGCGAAGAAGAGG	0.433												
PPRC1	23082	broad.mit.edu	37	10	103899081	103899081	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:103899081G>A	uc001kum.2	+	5	855	c.816G>A	c.(814-816)CCG>CCA	p.P272P	PPRC1_uc001kun.2_Silent_p.P152P|PPRC1_uc010qqj.1_Silent_p.P272P|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCAGTATCCCGGACTTCCCCA	0.577												
GBF1	8729	broad.mit.edu	37	10	104128502	104128502	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:104128502C>T	uc001kux.1	+	23	3123	c.2883C>T	c.(2881-2883)TGC>TGT	p.C961C	GBF1_uc001kuy.1_Silent_p.C961C|GBF1_uc001kuz.1_Silent_p.C962C	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	961					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACAGGAAGTGCGCCATGATCT	0.537												
PSD	5662	broad.mit.edu	37	10	104173625	104173625	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:104173625T>C	uc001kvg.1	-	5	1981	c.1454A>G	c.(1453-1455)GAG>GGG	p.E485G	PSD_uc001kvh.1_Missense_Mutation_p.E106G|PSD_uc009xxd.1_Missense_Mutation_p.E485G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	485	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTCTGCCTCCTCCTCCTCCCC	0.677												
GPAM	57678	broad.mit.edu	37	10	113928224	113928224	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:113928224C>T	uc009xxy.1	-	11	1151	c.953G>A	c.(952-954)CGT>CAT	p.R318H	GPAM_uc001kzp.2_Missense_Mutation_p.R318H|GPAM_uc001kzq.1_Missense_Mutation_p.R318H	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	318					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		ACTCCTAGAACGTGTGCCTTC	0.418												
C10orf46	143384	broad.mit.edu	37	10	120489879	120489879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:120489879C>T	uc001lds.1	-	2	895	c.411G>A	c.(409-411)TGG>TGA	p.W137*	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	137					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CCAATTTTGGCCAGTATGTGC	0.323												
PSTK	118672	broad.mit.edu	37	10	124746902	124746902	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:124746902G>A	uc001lgy.1	+	6	1370	c.930G>A	c.(928-930)GCG>GCA	p.A310A		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	310							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		gggtaagagcgaaccatgcag	0												
CHST15	51363	broad.mit.edu	37	10	125769742	125769742	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:125769742G>A	uc001lhl.2	-	7	2122	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	CHST15_uc001lhm.2_Missense_Mutation_p.R537W|CHST15_uc001lhn.2_Missense_Mutation_p.R537W	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	537	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TAGAAATCCCGCAGAATCTTC	0.602												
PTPRE	5791	broad.mit.edu	37	10	129868017	129868017	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:129868017G>A	uc001lkb.2	+	13	1348	c.1069G>A	c.(1069-1071)GCG>ACG	p.A357T	PTPRE_uc009yat.2_Missense_Mutation_p.A368T|PTPRE_uc009yau.2_Missense_Mutation_p.A357T|PTPRE_uc001lkd.2_Missense_Mutation_p.A299T|PTPRE_uc010quq.1_Missense_Mutation_p.A258T	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	357	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CATGATGCACGCGGAGCAGAA	0.552											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MKI67	4288	broad.mit.edu	37	10	129907238	129907238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:129907238G>A	uc001lke.2	-	13	3061	c.2866C>T	c.(2866-2868)CAG>TAG	p.Q956*	MKI67_uc001lkf.2_Nonsense_Mutation_p.Q596*|MKI67_uc009yav.1_Nonsense_Mutation_p.Q531*|MKI67_uc009yaw.1_Nonsense_Mutation_p.Q106*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	956					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCACATTTCTGCCCCCAAGTT	0.413												
INPP5A	3632	broad.mit.edu	37	10	134591262	134591262	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:134591262G>A	uc001llp.2	+	13	1313	c.1065G>A	c.(1063-1065)CCG>CCA	p.P355P	INPP5A_uc001llo.1_Silent_p.P355P|INPP5A_uc001llq.2_Silent_p.P250P	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	355					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCATGTCCCCGTCTGCCAAGG	0.662												
PAOX	196743	broad.mit.edu	37	10	135193657	135193657	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:135193657C>T	uc001lmv.2	+	2	416	c.336C>T	c.(334-336)TCC>TCT	p.S112S	PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Silent_p.S112S|PAOX_uc001lmy.2_Silent_p.S112S|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_Intron|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	250					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GCCTGCCCTCCGTGAGCTACG	0.672												
PSMD13	5719	broad.mit.edu	37	11	239045	239045	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:239045C>T	uc001lol.2	+	2	385	c.143C>T	c.(142-144)CCG>CTG	p.P48L	SIRT3_uc001loj.3_5'Flank|SIRT3_uc001lok.3_5'Flank|SIRT3_uc010qvm.1_5'Flank|SIRT3_uc010qvn.1_5'Flank|SIRT3_uc010qvo.1_5'Flank|SIRT3_uc010qvp.1_5'Flank|SIRT3_uc010qvq.1_5'Flank|SIRT3_uc009ybt.1_5'Flank|PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Intron|PSMD13_uc001lon.2_5'UTR|PSMD13_uc001lom.2_5'UTR	NM_002817	NP_002808	Q9UNM6	PSD13_HUMAN	proteasome 26S non-ATPase subunit 13 isoform 1	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			ovary(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GTGCAGGATCCGTGCTTTGCC	0.403												
RASSF7	8045	broad.mit.edu	37	11	561891	561891	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:561891A>G	uc001lqc.2	+	2	158	c.123A>G	c.(121-123)ATA>ATG	p.I41M	C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.I41M|RASSF7_uc001lqb.2_Missense_Mutation_p.I41M|RASSF7_uc001lqd.2_Missense_Mutation_p.I41M	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family	41	Ras-associating.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			skin(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAAGCAATAGGTGAGTCCT	0.622												
MUC2	4583	broad.mit.edu	37	11	1101020	1101020	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1101020C>T	uc001lsx.1	+	44	14532	c.14505C>T	c.(14503-14505)TGC>TGT	p.C4835C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4835	VWFC 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTTCGACTGCAAGAACTGTG	0.607												
MUC5B	727897	broad.mit.edu	37	11	1272662	1272662	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1272662C>T	uc009ycr.1	+	52	15644	c.15518C>T	c.(15517-15519)CCG>CTG	p.P5173L	MUC5B_uc001ltb.2_Missense_Mutation_p.P4854L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4851	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCACAGAGCCGAGCACTATA	0.627												
MUC5B	727897	broad.mit.edu	37	11	1276035	1276035	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1276035G>A	uc009ycr.1	+	57	16726	c.16600G>A	c.(16600-16602)GTC>ATC	p.V5534I	MUC5B_uc001ltb.2_Missense_Mutation_p.V5200I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5197	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGCGTGAGCGTCACCTTCAA	0.637												
PGAP2	27315	broad.mit.edu	37	11	3832493	3832493	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:3832493T>C	uc001lys.2	+	2	130	c.4T>C	c.(4-6)TAC>CAC	p.Y2H	PGAP2_uc001lyl.2_5'UTR|PGAP2_uc010qxw.1_Missense_Mutation_p.Y59H|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Silent_p.C13C|PGAP2_uc010qxy.1_Missense_Mutation_p.Y59H|PGAP2_uc010qxz.1_Missense_Mutation_p.Y59H|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.Y2H|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	2					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TGACAAGATGTACCAGGTCCC	0.597												
RHOG	391	broad.mit.edu	37	11	3848830	3848830	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:3848830G>A	uc001lyu.2	-	2	697	c.539C>T	c.(538-540)ACG>ATG	p.T180M		NM_001665	NP_001656	P84095	RHOG_HUMAN	ras homolog gene family, member G precursor	180					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTTGATCGGCGTGGGGTTGAG	0.632												
OR52R1	119695	broad.mit.edu	37	11	4825181	4825181	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:4825181C>T	uc010qym.1	-	1	667	c.667G>A	c.(667-669)GTG>ATG	p.V223M		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTTGATCACGACCGATGGG	0.572												
OR51G1	79324	broad.mit.edu	37	11	4944754	4944754	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:4944754G>A	uc010qyr.1	-	1	816	c.816C>T	c.(814-816)CGC>CGT	p.R272R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTACAACGCGGGGCAGAT	0.498												
OR51B5	282763	broad.mit.edu	37	11	5364477	5364477	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:5364477G>A	uc001map.1	-	1	278	c.278C>T	c.(277-279)GCG>GTG	p.A93V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.A93V	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCAGGCCGCACTTCCAAT	0.557												
DNHD1	144132	broad.mit.edu	37	11	6593053	6593053	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:6593053C>T	uc001mdw.3	+	43	14663	c.14099C>T	c.(14098-14100)GCC>GTC	p.A4700V	DNHD1_uc001mea.3_Missense_Mutation_p.A969V|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.A968V|DNHD1_uc010rao.1_Missense_Mutation_p.A958V|DNHD1_uc009yfg.2_Missense_Mutation_p.A325V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4700					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGCCCCAGCCGACCTGACT	0.632												
STK33	65975	broad.mit.edu	37	11	8478889	8478889	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:8478889A>G	uc001mgi.1	-	5	1615	c.696T>C	c.(694-696)AAT>AAC	p.N232N	STK33_uc001mgj.1_Silent_p.N232N|STK33_uc001mgk.1_Silent_p.N232N|STK33_uc010rbn.1_Silent_p.N191N|STK33_uc001mgl.3_Silent_p.N45N|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	232	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCTTCTTACCATTATTGTGAA	0.363												
CTR9	9646	broad.mit.edu	37	11	10800334	10800334	+	Silent	SNP	C	C	T	rs149166333		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:10800334C>T	uc001mja.2	+	25	3353	c.3204C>T	c.(3202-3204)AGC>AGT	p.S1068S		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	1068	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGTCTGGCAGCGAGGCCGGCA	0.557												
MICALCL	84953	broad.mit.edu	37	11	12316004	12316004	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:12316004C>A	uc001mkg.1	+	3	1317	c.1026C>A	c.(1024-1026)GCC>GCA	p.A342A		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	342					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CTGACCCTGCCCTCCGCACCC	0.562												
ABCC8	6833	broad.mit.edu	37	11	17482097	17482097	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:17482097G>A	uc001mnc.2	-	6	1075	c.949C>T	c.(949-951)CCA>TCA	p.P317S	ABCC8_uc010rcy.1_Missense_Mutation_p.P316S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	317	Helical; Name=6; (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ATGCACAGTGGCCCGGCGAAG	0.642												
IGSF22	283284	broad.mit.edu	37	11	18741301	18741301	+	Silent	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:18741301T>G	uc009yht.2	-	7	848	c.658A>C	c.(658-660)AGG>CGG	p.R220R	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	220	Lys-rich.									ovary(4)|large_intestine(2)|kidney(1)	7						TTGAGCTTCCTGAGCAGCCCC	0.512												
PTPN5	84867	broad.mit.edu	37	11	18764950	18764950	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:18764950G>A	uc001mpd.2	-	5	749	c.318C>T	c.(316-318)AGC>AGT	p.S106S	PTPN5_uc001mpb.2_Intron|PTPN5_uc001mpc.2_Silent_p.S106S|PTPN5_uc001mpe.2_Intron|PTPN5_uc010rdj.1_Intron|PTPN5_uc001mpf.2_Silent_p.S82S|PTPN5_uc010rdk.1_Silent_p.S51S	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	106						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGCCATAACCGCTGAACCAGA	0.612												
NELL1	4745	broad.mit.edu	37	11	21581797	21581797	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:21581797G>A	uc001mqe.2	+	17	2002	c.1849G>A	c.(1849-1851)GCA>ACA	p.A617T	NELL1_uc001mqf.2_Missense_Mutation_p.A570T|NELL1_uc009yid.2_Missense_Mutation_p.A645T|NELL1_uc010rdo.1_Missense_Mutation_p.A560T|NELL1_uc010rdp.1_Missense_Mutation_p.A330T|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	617	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						CATCAACCTGGCAGGGGGCTT	0.527												
SLC17A6	57084	broad.mit.edu	37	11	22363180	22363180	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:22363180T>C	uc001mqk.2	+	2	606	c.193T>C	c.(193-195)TTC>CTC	p.F65L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	65	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CTGCACGTGCTTCGGCCTGCC	0.627												
ANO3	63982	broad.mit.edu	37	11	26681924	26681924	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:26681924C>T	uc001mqt.3	+	27	3024	c.2879C>T	c.(2878-2880)GCT>GTT	p.A960V	ANO3_uc010rdr.1_Missense_Mutation_p.A944V|ANO3_uc010rds.1_Missense_Mutation_p.A799V|ANO3_uc010rdt.1_Missense_Mutation_p.A814V	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	960	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATGTATGAGGCTGAACTGGAA	0.428												
LIN7C	55327	broad.mit.edu	37	11	27520240	27520240	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:27520240G>A	uc001mrl.2	-	5	577	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LIN7C_uc009yii.2_Missense_Mutation_p.R160C	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	184					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TTTTCAAAGCGCGACTCCATT	0.378												
QSER1	79832	broad.mit.edu	37	11	32955470	32955470	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:32955470C>T	uc001mty.2	+	4	2546	c.2279C>T	c.(2278-2280)CCT>CTT	p.P760L	QSER1_uc001mtz.1_Missense_Mutation_p.P521L|QSER1_uc001mua.2_Missense_Mutation_p.P265L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	760	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GTTCAAAGCCCTCAACAAATA	0.408												
TP53I11	9537	broad.mit.edu	37	11	44956502	44956502	+	Missense_Mutation	SNP	C	C	T	rs141661210		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:44956502C>T	uc001myi.2	-	10	1108	c.503G>A	c.(502-504)CGC>CAC	p.R168H	TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Missense_Mutation_p.R168H|TP53I11_uc001myk.2_Missense_Mutation_p.R168H|TP53I11_uc001myl.2_Missense_Mutation_p.R168H|TP53I11_uc001mym.2_Missense_Mutation_p.R115H	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	168	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						AAAAAGGAGGCGGCTGACCAG	0.607												
CHST1	8534	broad.mit.edu	37	11	45671602	45671602	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:45671602G>A	uc001mys.1	-	4	1543	c.872C>T	c.(871-873)CCG>CTG	p.P291L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	291	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTTGAGCCACGGGGGCCGCAT	0.622												
NR1H3	10062	broad.mit.edu	37	11	47282097	47282097	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:47282097C>T	uc009ylm.2	+	4	591	c.370C>T	c.(370-372)CGC>TGC	p.R124C	NR1H3_uc009yll.1_Missense_Mutation_p.R130C|NR1H3_uc010rhk.1_Missense_Mutation_p.R130C|NR1H3_uc001nek.2_Missense_Mutation_p.R79C|NR1H3_uc001nej.2_Missense_Mutation_p.R124C|NR1H3_uc001nel.2_Missense_Mutation_p.R79C|NR1H3_uc001nen.3_Missense_Mutation_p.R124C|NR1H3_uc001nem.2_Missense_Mutation_p.R124C|NR1H3_uc001nep.2_Missense_Mutation_p.R33C	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	124	Nuclear receptor.				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3						ATTCTTCCGCCGCAGCGTCAT	0.602												
PTPRJ	5795	broad.mit.edu	37	11	48145177	48145177	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:48145177T>C	uc001ngp.3	+	5	984	c.629T>C	c.(628-630)GTT>GCT	p.V210A	PTPRJ_uc001ngo.3_Missense_Mutation_p.V210A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	210	Extracellular (Potential).|Fibronectin type-III 2.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CCGATCCCAGTTTCTGATCTC	0.488												
OR4B1	119765	broad.mit.edu	37	11	48238920	48238920	+	Missense_Mutation	SNP	T	T	C	rs145940486		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:48238920T>C	uc010rhs.1	+	1	559	c.559T>C	c.(559-561)TGC>CGC	p.C187R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						CAAGCTTGCCTGCACTGACAC	0.443												
OR4C13	283092	broad.mit.edu	37	11	49974622	49974622	+	Silent	SNP	C	C	T	rs142785731		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:49974622C>T	uc010rhz.1	+	1	648	c.648C>T	c.(646-648)TGC>TGT	p.C216C		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGGTCTCCTGCGTGGTCATAC	0.483												
OR4C15	81309	broad.mit.edu	37	11	55322287	55322287	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:55322287A>G	uc010rig.1	+	1	505	c.505A>G	c.(505-507)ACA>GCA	p.T169A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GATTGTCCTCACAGCCATGGC	0.488										HNSCC(20;0.049)		
OR4C6	219432	broad.mit.edu	37	11	55433482	55433482	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:55433482A>G	uc001nht.3	+	3	1105	c.840A>G	c.(838-840)TTA>TTG	p.L280L	OR4C6_uc010rik.1_Silent_p.L280L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CACCCATGTTAAATCCCTTGA	0.453												
OR5T3	390154	broad.mit.edu	37	11	56020522	56020522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:56020522G>T	uc010rjd.1	+	1	847	c.847G>T	c.(847-849)GGA>TGA	p.G283*		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	283	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					AATTTATCATGGAACAATTCT	0.398												
OR5M3	219482	broad.mit.edu	37	11	56237921	56237921	+	Missense_Mutation	SNP	C	C	T	rs142752109		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:56237921C>T	uc010rjk.1	-	1	53	c.53G>A	c.(52-54)CGT>CAT	p.R18H		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CCATTCTCGACGGCTCGTTAG	0.398												
FAM111B	374393	broad.mit.edu	37	11	58891822	58891822	+	Silent	SNP	G	G	A	rs141392651	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:58891822G>A	uc001nnl.2	+	4	495	c.252G>A	c.(250-252)ACG>ACA	p.T84T	FAM111B_uc001nnm.2_Silent_p.T54T|FAM111B_uc010rko.1_Silent_p.T54T	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	84							catalytic activity			ovary(2)	2						TCACCTTTACGTTGAATGGAA	0.388												
OR10V1	390201	broad.mit.edu	37	11	59481128	59481128	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:59481128G>A	uc001nof.1	-	1	191	c.191C>T	c.(190-192)GCT>GTT	p.A64V		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCCAGATTAGCCAGGAAAAA	0.458												
ZP1	22917	broad.mit.edu	37	11	60637116	60637116	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:60637116G>A	uc001nqd.2	+	3	445	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	142	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GACCCCTCCCGGACTCTGGAC	0.592												
TMEM132A	54972	broad.mit.edu	37	11	60703936	60703936	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:60703936C>T	uc001nqj.2	+	11	2822	c.2629C>T	c.(2629-2631)CGC>TGC	p.R877C	TMEM132A_uc001nqi.2_Missense_Mutation_p.R878C|TMEM132A_uc001nqm.2_Missense_Mutation_p.R87C	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	877	Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GCGCTATCAGCGCAAAGAACC	0.612												
DDB1	1642	broad.mit.edu	37	11	61071387	61071387	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:61071387G>A	uc001nrc.3	-	22	3008	c.2782C>T	c.(2782-2784)CGC>TGC	p.R928C	DDB1_uc010rle.1_Missense_Mutation_p.R239C|DDB1_uc010rlf.1_Missense_Mutation_p.R928C	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	928	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						AGCACTGAGCGCATAAGGTCG	0.562								NER				
SYT7	9066	broad.mit.edu	37	11	61323636	61323636	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:61323636G>A	uc001nrv.2	-	2	81	c.75C>T	c.(73-75)ACC>ACT	p.T25T	SYT7_uc009ynr.2_Silent_p.T25T|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	25	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						TAAGGCTGACGGTGATGATGG	0.667												
NRXN2	9379	broad.mit.edu	37	11	64390423	64390423	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64390423G>A	uc001oap.2	-	6	1348	c.837C>T	c.(835-837)GCC>GCT	p.A279A	NRXN2_uc001oar.2_Silent_p.A1325A|NRXN2_uc001oas.2_Silent_p.A1255A|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Silent_p.A992A	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	279	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GGTCGCTCTCGGCGGCCAGCG	0.701												
SF1	7536	broad.mit.edu	37	11	64534506	64534506	+	Missense_Mutation	SNP	G	G	A	rs149376410		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64534506G>A	uc001obb.1	-	12	1825	c.1448C>T	c.(1447-1449)CCG>CTG	p.P483L	SF1_uc010rnm.1_Missense_Mutation_p.P175L|SF1_uc010rnn.1_Missense_Mutation_p.P457L|SF1_uc001oaz.1_Missense_Mutation_p.P608L|SF1_uc001oba.1_Missense_Mutation_p.P483L|SF1_uc001obc.1_Missense_Mutation_p.P483L|SF1_uc001obd.1_Silent_p.A484A|SF1_uc001obe.1_Silent_p.A369A|SF1_uc010rno.1_Missense_Mutation_p.P368L	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	483	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						ACTGGGAGGCGGCGGCGGCGG	0.687												
BATF2	116071	broad.mit.edu	37	11	64757191	64757191	+	Missense_Mutation	SNP	C	C	T	rs137880686	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64757191C>T	uc001ocf.1	-	3	366	c.235G>A	c.(235-237)GTG>ATG	p.V79M	BATF2_uc001oce.1_Translation_Start_Site	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor,	79						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCTCATGCACGTGCAGGGTC	0.667												
SAC3D1	29901	broad.mit.edu	37	11	64812170	64812170	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64812170G>T	uc001ocm.2	+	2	1437	c.1048G>T	c.(1048-1050)GGC>TGC	p.G350C	SAC3D1_uc010rnv.1_Missense_Mutation_p.G337C	NM_013299	NP_037431			SAC3 domain containing 1												0						GGAAGATGAGGGCACGGACAG	0.602												
LTBP3	4054	broad.mit.edu	37	11	65320450	65320450	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:65320450A>G	uc001oej.2	-	6	1336	c.1067T>C	c.(1066-1068)ATC>ACC	p.I356T	LTBP3_uc010roi.1_Missense_Mutation_p.I239T|LTBP3_uc001oei.2_Missense_Mutation_p.I356T|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.I267T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	356	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GCACTCGTTGATGTCTGTGGT	0.617												
SF3B2	10992	broad.mit.edu	37	11	65825861	65825861	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:65825861C>T	uc001ogy.1	+	9	991	c.951C>T	c.(949-951)TCC>TCT	p.S317S		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	317					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						ACACAGTGTCCGTATCTAAAA	0.493												
DPP3	10072	broad.mit.edu	37	11	66252663	66252663	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:66252663C>T	uc001oig.1	+	3	352	c.290C>T	c.(289-291)GCG>GTG	p.A97V	DPP3_uc001oif.1_Missense_Mutation_p.A97V|DPP3_uc010rpe.1_Intron	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	97					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GTCTATGCCGCGGGTGTTTAC	0.592												
SPTBN2	6712	broad.mit.edu	37	11	66453406	66453406	+	Missense_Mutation	SNP	C	C	T	rs145522851	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:66453406C>T	uc001ojd.2	-	37	7181	c.7109G>A	c.(7108-7110)CGC>CAC	p.R2370H	SPTBN2_uc001ojc.1_3'UTR	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2370					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTCTTTGCTGCGGAGCACAAC	0.627												
CARNS1	57571	broad.mit.edu	37	11	67191666	67191666	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:67191666G>A	uc009yrp.2	+	9	2530	c.2078G>A	c.(2077-2079)CGC>CAC	p.R693H	CARNS1_uc001olc.3_Missense_Mutation_p.R832H	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	693	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						ATCAACCCCCGCATGGGTGGC	0.617												
ALDH3B2	222	broad.mit.edu	37	11	67430713	67430713	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:67430713C>A	uc001omr.2	-	10	1570	c.1131G>T	c.(1129-1131)ATG>ATT	p.M377I	ALDH3B2_uc001oms.2_Missense_Mutation_p.M377I	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	377					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	TCTGGGAGCCCATGCCCCAGC	0.612												
LRP5	4041	broad.mit.edu	37	11	68183850	68183850	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:68183850C>T	uc001ont.2	+	13	2957	c.2882C>T	c.(2881-2883)CCG>CTG	p.P961L	LRP5_uc009ysg.2_Missense_Mutation_p.P371L	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	961	Beta-propeller 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGGATGATCCCGGACGACCAG	0.572												
LRP5	4041	broad.mit.edu	37	11	68201246	68201246	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:68201246C>T	uc001ont.2	+	18	4015	c.3940C>T	c.(3940-3942)CGC>TGC	p.R1314C	LRP5_uc009ysg.2_Missense_Mutation_p.R724C	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1314	LDL-receptor class A 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						TGTGGACCTGCGCCTGCGCTG	0.701												
MRPL21	219927	broad.mit.edu	37	11	68664114	68664114	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:68664114T>C	uc001ooi.2	-	4	290	c.265A>G	c.(265-267)ACG>GCG	p.T89A	MRPL21_uc001ooh.2_Missense_Mutation_p.T4A|MRPL21_uc010rqe.1_Missense_Mutation_p.T89A	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	89					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TACTGCCCCGTGACGATCATC	0.577												
FGF3	2248	broad.mit.edu	37	11	69631101	69631101	+	Missense_Mutation	SNP	C	C	T	rs150581924	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:69631101C>T	uc001oph.2	-	2	802	c.311G>A	c.(310-312)CGA>CAA	p.R104Q		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	104					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCATAGAGTCGTCCCCTCTT	0.597												
KRTAP5-10	387273	broad.mit.edu	37	11	71276692	71276692	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:71276692G>T	uc001oqt.1	+	1	84	c.59G>T	c.(58-60)GGC>GTC	p.G20V		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	20						keratin filament				skin(1)	1						TGTGGCTCCGGCTGTGGGGGC	0.667												
PHOX2A	401	broad.mit.edu	37	11	71952170	71952170	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:71952170G>A	uc001osh.3	-	2	553	c.381C>T	c.(379-381)ATC>ATT	p.I127I		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	127	Homeobox.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGTGAGGTCGATCTTGAGCG	0.597												
ARHGEF17	9828	broad.mit.edu	37	11	73022117	73022117	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:73022117C>T	uc001otu.2	+	1	2455	c.2434C>T	c.(2434-2436)CGT>TGT	p.R812C		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	812					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						CACCCTGGGGCGTGTGGTGGA	0.607												
P4HA3	283208	broad.mit.edu	37	11	73990445	73990445	+	Missense_Mutation	SNP	C	C	T	rs140613720	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:73990445C>T	uc001ouz.2	-	8	1206	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.R388H	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	388						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TTTGCTGATGCGGTACTCCAC	0.527												
PGM2L1	283209	broad.mit.edu	37	11	74057834	74057834	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:74057834A>G	uc001ovb.1	-	8	1276	c.980T>C	c.(979-981)GTA>GCA	p.V327A		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	327					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					GGCTAGCACTACCCGGGCATT	0.418												
RNF169	254225	broad.mit.edu	37	11	74547506	74547506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:74547506C>T	uc001ovl.3	+	6	1871	c.1858C>T	c.(1858-1860)CGA>TGA	p.R620*	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	620							zinc ion binding			ovary(1)	1						TTCTTTGCGTCGAGGCCGGAA	0.453												
NOX4	50507	broad.mit.edu	37	11	89075264	89075264	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:89075264C>A	uc001pct.2	-	14	1554	c.1315G>T	c.(1315-1317)GCA>TCA	p.A439S	NOX4_uc009yvr.2_Missense_Mutation_p.A414S|NOX4_uc001pcu.2_Missense_Mutation_p.A365S|NOX4_uc001pcw.2_Missense_Mutation_p.A132S|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Intron|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.A273S|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Intron|NOX4_uc009yvq.2_Missense_Mutation_p.A415S	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	439	Helical; (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTATTGATGCAAATGGAGTT	0.383												
FAT3	120114	broad.mit.edu	37	11	92543168	92543168	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92543168A>G	uc001pdj.3	+	12	9424	c.9407A>G	c.(9406-9408)TAC>TGC	p.Y3136C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3136	Cadherin 29.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGACCACTACAACACCTGT	0.542										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92577840	92577840	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92577840G>A	uc001pdj.3	+	18	11324	c.11307G>A	c.(11305-11307)ACG>ACA	p.T3769T	FAT3_uc001pdi.3_Silent_p.T209T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3769	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTACAGCACGGCTCGCATCA	0.537										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92590407	92590407	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92590407C>A	uc001pdj.3	+	19	11410	c.11393C>A	c.(11392-11394)CCT>CAT	p.P3798H	FAT3_uc001pdi.3_Missense_Mutation_p.P238H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3798	EGF-like 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCAACGATCCTTGTGTGGAG	0.542										TCGA Ovarian(4;0.039)		
MTNR1B	4544	broad.mit.edu	37	11	92715374	92715374	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92715374C>A	uc001pdk.1	+	2	1088	c.985C>A	c.(985-987)CCA>ACA	p.P329T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	329	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCTTTGGAACCCACGGCACTG	0.552												
SLC36A4	120103	broad.mit.edu	37	11	92914014	92914014	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92914014C>T	uc001pdn.2	-	6	586	c.489G>A	c.(487-489)CAG>CAA	p.Q163Q	SLC36A4_uc001pdm.2_Silent_p.Q28Q	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	163	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGAATCCCAGCTGTGTTATCA	0.343												
BIRC3	330	broad.mit.edu	37	11	102195592	102195592	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:102195592A>T	uc001pgx.2	+	3	574	c.352A>T	c.(352-354)ACA>TCA	p.T118S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	118					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTCTTCAGTAACAAATTCCAC	0.398			T	MALT1	MALT							
ZC3H12C	85463	broad.mit.edu	37	11	110030104	110030104	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:110030104C>T	uc009yxw.2	+	4	1088	c.1037C>T	c.(1036-1038)TCG>TTG	p.S346L	ZC3H12C_uc010rwc.1_Missense_Mutation_p.S347L|ZC3H12C_uc010rwd.1_Missense_Mutation_p.S347L|ZC3H12C_uc001pkr.3_Missense_Mutation_p.S315L|ZC3H12C_uc001pkq.2_Missense_Mutation_p.S315L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	346							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCTTTTGAGTCGGACGGTATC	0.463												
PPP2R1B	5519	broad.mit.edu	37	11	111631752	111631752	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:111631752A>G	uc001plx.1	-	4	414	c.330T>C	c.(328-330)ACT>ACC	p.T110T	PPP2R1B_uc001plw.1_Silent_p.T110T|PPP2R1B_uc010rwi.1_Silent_p.T46T|PPP2R1B_uc010rwj.1_Intron|PPP2R1B_uc010rwk.1_Silent_p.T110T|PPP2R1B_uc010rwl.1_Intron	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	110	HEAT 3.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTCTTCCACAGTTGCCAGAT	0.423												
TTC12	54970	broad.mit.edu	37	11	113215077	113215077	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:113215077C>T	uc001pnu.2	+	13	1174	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	TTC12_uc001pnv.2_Missense_Mutation_p.R363W|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.R207W	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	357							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCTGGCCATCCGGCAGCAGAG	0.592												
ZW10	9183	broad.mit.edu	37	11	113610003	113610003	+	Missense_Mutation	SNP	C	C	T	rs61762985	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:113610003C>T	uc001poe.2	-	12	1722	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	562					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GGGGGCAAGACGCAATCTGAA	0.453												
ZBTB16	7704	broad.mit.edu	37	11	113934110	113934110	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:113934110G>A	uc001pop.2	+	2	352	c.88G>A	c.(88-90)GCC>ACC	p.A30T	ZBTB16_uc001poo.1_Missense_Mutation_p.A30T|ZBTB16_uc001poq.2_Missense_Mutation_p.A30T	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	30					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GATGCGGCTGGCCGGGACTTT	0.597												
ZBTB16	7704	broad.mit.edu	37	11	114113008	114113008	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:114113008C>T	uc001pop.2	+	5	1837	c.1573C>T	c.(1573-1575)CGC>TGC	p.R525C	ZBTB16_uc001poq.2_Missense_Mutation_p.R525C	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	525	C2H2-type 5.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGAGTGCAACCGCACCTTCCC	0.632												
SIDT2	51092	broad.mit.edu	37	11	117063305	117063305	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:117063305G>A	uc001pqh.1	+	21	2038	c.1997G>A	c.(1996-1998)CGC>CAC	p.R666H	SIDT2_uc010rxe.1_Missense_Mutation_p.R666H|SIDT2_uc001pqg.2_Missense_Mutation_p.R687H|SIDT2_uc001pqi.1_Missense_Mutation_p.R663H|SIDT2_uc001pqj.1_5'UTR	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	666	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGGATCTTCCGCCGCATCCTC	0.642												
DSCAML1	57453	broad.mit.edu	37	11	117303115	117303115	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:117303115T>C	uc001prh.1	-	30	5314	c.5312A>G	c.(5311-5313)CAG>CGG	p.Q1771R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1711	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		TCCTGTGCTCTGGATGAGGGT	0.587												
DSCAML1	57453	broad.mit.edu	37	11	117403212	117403212	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:117403212G>A	uc001prh.1	-	4	719	c.717C>T	c.(715-717)CAC>CAT	p.H239H	DSCAML1_uc001pri.1_Silent_p.H43H	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	179	Extracellular (Potential).|Ig-like C2-type 2.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		ACAGCCCGCCGTGGTAGGTAA	0.537												
UBE4A	9354	broad.mit.edu	37	11	118263589	118263589	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118263589C>T	uc001psw.2	+	19	3182	c.3053C>T	c.(3052-3054)ACC>ATC	p.T1018I	UBE4A_uc001psv.2_Missense_Mutation_p.T1025I	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1018	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GATAGATCCACCATTGCAAGA	0.453												
MLL	4297	broad.mit.edu	37	11	118361992	118361992	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118361992G>A	uc001pta.2	+	14	4801	c.4778G>A	c.(4777-4779)CGC>CAC	p.R1593H	MLL_uc001ptb.2_Missense_Mutation_p.R1593H|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1593	PHD-type 3.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAGTGTGATCGCTGGGTCCAT	0.383			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
TTC36	143941	broad.mit.edu	37	11	118398293	118398293	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118398293C>T	uc001ptg.1	+	1	84	c.84C>T	c.(82-84)CTC>CTT	p.L28L	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	28							binding				0						GATTGGACCTCGGAGAGGAAG	0.532												
DDX6	1656	broad.mit.edu	37	11	118625487	118625487	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118625487G>A	uc001pub.2	-	13	1747	c.1386C>T	c.(1384-1386)AGC>AGT	p.S462S	DDX6_uc001pua.2_Silent_p.S162S|DDX6_uc001puc.2_Silent_p.S462S	NM_004397	NP_004388	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	462	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TATCAATGTTGCTCGGAATAG	0.438			T	IGH@	B-NHL							
HMBS	3145	broad.mit.edu	37	11	118963986	118963986	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118963986C>T	uc001puz.1	+	14	1236	c.1079C>T	c.(1078-1080)GCC>GTC	p.A360V	HMBS_uc001pvc.1_Missense_Mutation_p.A305V|HMBS_uc009zap.1_Missense_Mutation_p.A343V|HMBS_uc001pva.1_Missense_Mutation_p.A320V|HMBS_uc001pvb.1_Missense_Mutation_p.A329V|HMBS_uc001pvd.1_Missense_Mutation_p.A343V|HMBS_uc001pve.1_Missense_Mutation_p.A303V|HMBS_uc001pvf.1_Missense_Mutation_p.A343V	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	360					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTTAACGATGCCCATTAACTG	0.567									Porphyria_Acute_Intermittent			
DPAGT1	1798	broad.mit.edu	37	11	118967888	118967888	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118967888A>G	uc001pvi.2	-	8	1545	c.1125T>C	c.(1123-1125)CAT>CAC	p.H375H	H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Silent_p.H268H|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Silent_p.H203H|DPAGT1_uc010ryz.1_Silent_p.H375H|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.1_Silent_p.H268H	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	375	Cytoplasmic (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGTTTCTCTCATGTATGGGCC	0.478												
NLRX1	79671	broad.mit.edu	37	11	119052858	119052858	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:119052858G>A	uc001pvu.2	+	9	2625	c.2410G>A	c.(2410-2412)GCA>ACA	p.A804T	NLRX1_uc001pvv.2_Missense_Mutation_p.A804T|NLRX1_uc001pvw.2_Missense_Mutation_p.A804T|NLRX1_uc001pvx.2_Missense_Mutation_p.A804T	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	804	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGAGGGGCTGGCAGGAAACAC	0.637												
TECTA	7007	broad.mit.edu	37	11	121023678	121023678	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:121023678C>T	uc010rzo.1	+	12	4194	c.4194C>T	c.(4192-4194)TGC>TGT	p.C1398C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1398	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGTGACTGCAGCCACTACT	0.632												
TMEM218	219854	broad.mit.edu	37	11	124971177	124971177	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:124971177A>C	uc001qbs.2	-	3	785	c.133T>G	c.(133-135)TTC>GTC	p.F45V	TMEM218_uc001qbr.2_Missense_Mutation_p.F71V|TMEM218_uc010saw.1_Missense_Mutation_p.F80V|TMEM218_uc010sax.1_Missense_Mutation_p.F45V|TMEM218_uc001qbt.2_Missense_Mutation_p.F80V|TMEM218_uc010say.1_Intron	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	transmembrane protein 218	45	Helical; (Potential).					integral to membrane					0						ACAGCACCGAAGAATAAAAAA	0.408												
SRPR	6734	broad.mit.edu	37	11	126137546	126137546	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:126137546C>T	uc001qdh.2	-	3	314	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	SRPR_uc010sbm.1_Missense_Mutation_p.R60Q|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	88					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCGAAACAGCCGATGCACGTC	0.423												
KCNJ5	3762	broad.mit.edu	37	11	128781757	128781757	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:128781757G>A	uc001qet.2	+	2	903	c.589G>A	c.(589-591)GCG>ACG	p.A197T	KCNJ5_uc009zck.2_Missense_Mutation_p.A197T|KCNJ5_uc001qew.2_Missense_Mutation_p.A197T	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	197	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAAGAAGAGAGCGGAGACCCT	0.567												
SLC6A12	6539	broad.mit.edu	37	12	302470	302470	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:302470C>A	uc001qhz.2	-	15	2046	c.1503G>T	c.(1501-1503)TGG>TGT	p.W501C	SLC6A12_uc001qhx.2_Missense_Mutation_p.W158C|SLC6A12_uc001qhy.2_Missense_Mutation_p.W57C|SLC6A12_uc001qia.2_Missense_Mutation_p.W501C|SLC6A12_uc001qib.2_Missense_Mutation_p.W501C|SLC6A12_uc009zdh.1_Missense_Mutation_p.W501C	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	501	Helical; Name=11; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCAGGAAGAGCCAGGAGATCT	0.587												
TULP3	7289	broad.mit.edu	37	12	3018723	3018723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:3018723C>T	uc010seh.1	+	2	151	c.70C>T	c.(70-72)CGA>TGA	p.R24*	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Nonsense_Mutation_p.R24*|TULP3_uc010sei.1_5'UTR	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	24					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GATGAAGATGCGACAGGCTAA	0.373												
TEAD4	7004	broad.mit.edu	37	12	3129845	3129845	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:3129845C>T	uc010sej.1	+	9	903	c.626C>T	c.(625-627)CCG>CTG	p.P209L	TEAD4_uc010sek.1_Missense_Mutation_p.P166L|TEAD4_uc001qln.2_Missense_Mutation_p.P81L	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	210					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTGCGCCCCCGGCACCCCCA	0.667												
KCNA5	3741	broad.mit.edu	37	12	5153795	5153795	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:5153795A>G	uc001qni.2	+	1	711	c.482A>G	c.(481-483)AAC>AGC	p.N161S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	161						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCCCTGAGGAACGAGTACTTC	0.667												
CD9	928	broad.mit.edu	37	12	6344406	6344406	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:6344406A>C	uc001qnp.1	+	6	804	c.360A>C	c.(358-360)GAA>GAC	p.E120D	CD9_uc010sev.1_Missense_Mutation_p.E120D|CD9_uc001qnq.1_Missense_Mutation_p.E120D	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	120	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						TGATTAAGGAAGTCCAGGAGT	0.493												
TNFRSF1A	7132	broad.mit.edu	37	12	6439448	6439448	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:6439448C>T	uc001qnu.2	-	8	1034	c.753G>A	c.(751-753)TCG>TCA	p.S251S	TNFRSF1A_uc001qnt.2_Silent_p.S143S|TNFRSF1A_uc010sey.1_Silent_p.S19S|TNFRSF1A_uc010sez.1_Silent_p.S143S|TNFRSF1A_uc009zek.2_Silent_p.S208S	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	251	Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						TTTCAGGTGTCGATTTCCCAC	0.463												
DPPA3	359787	broad.mit.edu	37	12	7867781	7867781	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:7867781G>A	uc001qtf.2	+	2	163	c.85G>A	c.(85-87)GCC>ACC	p.A29T		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	stella	29						cytoplasm|nucleus					0				Kidney(36;0.0887)		TCTTTCAGGGGCCTCTCAAAT	0.468												
A2ML1	144568	broad.mit.edu	37	12	8995753	8995753	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:8995753A>G	uc001quz.3	+	12	1370	c.1272A>G	c.(1270-1272)TTA>TTG	p.L424L	A2ML1_uc001qva.1_Silent_p.L4L|A2ML1_uc010sgm.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	268						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGGAAGACTTAGTATATAATC	0.473												
PHC1	1911	broad.mit.edu	37	12	9091935	9091935	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:9091935G>T	uc001qvd.2	+	15	3051	c.2895G>T	c.(2893-2895)CAG>CAT	p.Q965H	PHC1_uc001qve.2_Missense_Mutation_p.Q965H	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	965	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TTCGCTCACAGGAGATTGATG	0.443												
STYK1	55359	broad.mit.edu	37	12	10777340	10777340	+	Missense_Mutation	SNP	C	C	T	rs147511596		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:10777340C>T	uc001qys.2	-	8	1357	c.836G>A	c.(835-837)CGA>CAA	p.R279Q		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	279	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						GATGGCCCCTCGGGTGTAAAC	0.502										HNSCC(73;0.22)		
GRIN2B	2904	broad.mit.edu	37	12	13716608	13716608	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:13716608G>A	uc001rbt.2	-	13	3743	c.3564C>T	c.(3562-3564)GGC>GGT	p.G1188G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1188	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTGACCACGCCGTGTTTGT	0.627												
GRIN2B	2904	broad.mit.edu	37	12	13717418	13717418	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:13717418C>T	uc001rbt.2	-	13	2933	c.2754G>A	c.(2752-2754)CCG>CCA	p.P918P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	918	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCGCTCTGCGGTGAGCCAT	0.572												
GOLT1B	51026	broad.mit.edu	37	12	21665287	21665287	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:21665287C>T	uc001rez.2	+	4	514	c.355C>T	c.(355-357)CTA>TTA	p.L119L	GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	golgi transport 1 homolog B	119	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity				0						TGGATCCCTCCTAAATTTACC	0.343												
GYS2	2998	broad.mit.edu	37	12	21721851	21721851	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:21721851C>T	uc001rfb.2	-	5	1026	c.771G>A	c.(769-771)ACG>ACA	p.T257T		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	257					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						TTTCAGAAACCGTGGTGAACA	0.438												
KIAA0528	9847	broad.mit.edu	37	12	22677508	22677508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:22677508C>A	uc001rfq.2	-	6	727	c.499G>T	c.(499-501)GAA>TAA	p.E167*	KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Nonsense_Mutation_p.E167*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.E167*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.E167*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.E167*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.E167*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	167							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ACCACAAGTTCTTCTACAAAT	0.373												
PPHLN1	51535	broad.mit.edu	37	12	42745792	42745792	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:42745792G>A	uc001rng.1	+	3	283	c.178G>A	c.(178-180)GAC>AAC	p.D60N	PPHLN1_uc001rmy.2_Missense_Mutation_p.D78N|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Missense_Mutation_p.D67N|PPHLN1_uc001rnb.2_Missense_Mutation_p.D67N|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Missense_Mutation_p.D60N|PPHLN1_uc001rnf.2_Missense_Mutation_p.D60N|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	60					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGATTACCGAGACTATGACGA	0.403												
ARID2	196528	broad.mit.edu	37	12	46287412	46287412	+	Splice_Site	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:46287412G>T	uc001ros.1	+	20	5272	c.5272_splice	c.e20-1	p.D1758_splice	ARID2_uc001ror.2_Splice_Site_p.D1758_splice|ARID2_uc009zkg.1_Splice_Site_p.D1214_splice|ARID2_uc009zkh.1_Splice_Site_p.D1385_splice|ARID2_uc001rou.1_Splice_Site_p.D1092_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTTTTTAAGGATGAAAAAG	0.328												
ENDOU	8909	broad.mit.edu	37	12	48110149	48110149	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:48110149C>T	uc001rpu.1	-	6	839	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ENDOU_uc010sll.1_5'UTR|ENDOU_uc001rpt.1_Missense_Mutation_p.A188T|ENDOU_uc010slm.1_Missense_Mutation_p.A166T|uc001rpv.2_5'Flank	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	229					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						CTGAGGAAGGCGTCCTGCTCG	0.587											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COL2A1	1280	broad.mit.edu	37	12	48376306	48376306	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:48376306G>A	uc001rqu.2	-	34	2461	c.2280C>T	c.(2278-2280)ATC>ATT	p.I760I	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.I691I	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	760	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGCCCAGCGATACCAGCTG	0.632												
CCNT1	904	broad.mit.edu	37	12	49087737	49087737	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49087737A>G	uc001rse.1	-	9	1583	c.1260T>C	c.(1258-1260)TAT>TAC	p.Y420Y	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Silent_p.Y135Y	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	420	Potential.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						TCTGGGCAGCATATGCATATT	0.463												
WNT1	7471	broad.mit.edu	37	12	49373465	49373465	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49373465G>A	uc001rsu.2	+	2	517	c.319G>A	c.(319-321)GCT>ACT	p.A107T		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	107					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		CTGTCCCACTGCTCCAGGGCC	0.672												
MLL2	8085	broad.mit.edu	37	12	49436573	49436573	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49436573G>A	uc001rta.3	-	26	5733	c.5733C>T	c.(5731-5733)ACC>ACT	p.T1911T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1911					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTAGGCCAGGGGTTCCACAAC	0.542			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
PRPH	5630	broad.mit.edu	37	12	49691820	49691820	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49691820G>T	uc001rtu.2	+	8	1422	c.1347G>T	c.(1345-1347)GAG>GAT	p.E449D		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	449	Tail.						structural molecule activity				0						GGAATGGGGAGGTGAGGCAGG	0.547												
NCKAP5L	57701	broad.mit.edu	37	12	50190545	50190545	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:50190545C>T	uc009zlk.2	-	8	1300	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	362	Pro-rich.									central_nervous_system(1)	1						GCTGTGGGGGCGCCTGGTCTG	0.657												
AQP5	362	broad.mit.edu	37	12	50355937	50355937	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:50355937C>T	uc001rvo.2	+	1	659	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_001651	NP_001642	P55064	AQP5_HUMAN	aquaporin 5	46	Helical; (Potential).				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity				0						CTGCAGATCGCGCTGGCGTTT	0.677												
RACGAP1	29127	broad.mit.edu	37	12	50390908	50390908	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:50390908C>T	uc001rvt.2	-	12	1269	c.959G>A	c.(958-960)CGT>CAT	p.R320H	RACGAP1_uc009zlm.1_Missense_Mutation_p.R320H|RACGAP1_uc001rvs.2_Missense_Mutation_p.R320H|RACGAP1_uc001rvu.2_Missense_Mutation_p.R320H	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	320	Phorbol-ester/DAG-type.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						AGAGACCACACGACAGTCTCG	0.463												
KRT5	3852	broad.mit.edu	37	12	52913955	52913955	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:52913955A>G	uc001san.2	-	1	289	c.126T>C	c.(124-126)GGT>GGC	p.G42G	KRT5_uc009zmh.2_Silent_p.G42G	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	42	Head.|Gly-rich.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCACCACCACCGCCACCCC	0.672												
KRT76	51350	broad.mit.edu	37	12	53170507	53170507	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53170507A>C	uc001sax.2	-	1	623	c.569T>G	c.(568-570)CTC>CGC	p.L190R		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	190	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						CTTGTTGTTGAGGGTCTTGAT	0.522												
PFDN5	5204	broad.mit.edu	37	12	53691644	53691644	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53691644C>T	uc001scl.2	+	4	335	c.218C>T	c.(217-219)CCT>CTT	p.P73L	PFDN5_uc001scm.2_Missense_Mutation_p.P28L|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	73					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						ATGTATGTCCCTGGGAAGCTG	0.522												
SP1	6667	broad.mit.edu	37	12	53775576	53775576	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53775576C>T	uc001scw.2	+	2	238	c.141C>T	c.(139-141)AGC>AGT	p.S47S	SP1_uc010sog.1_Silent_p.S40S	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	47	Ser/Thr-rich.|Repressor domain.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCAGTAGCAGCAGCACTGGAG	0.453											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NFE2	4778	broad.mit.edu	37	12	54686543	54686543	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:54686543G>A	uc009znk.2	-	2	1247	c.737C>T	c.(736-738)CCG>CTG	p.P246L	NFE2_uc001sfq.2_Missense_Mutation_p.P246L|NFE2_uc001sfr.3_Missense_Mutation_p.P246L|NFE2_uc009znl.2_Missense_Mutation_p.P246L	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	246					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						GTCATCTACCGGCAAGTTGAC	0.572												
ITGA7	3679	broad.mit.edu	37	12	56078944	56078944	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56078944C>A	uc001shh.2	-	25	3544	c.3324G>T	c.(3322-3324)TGG>TGT	p.W1108C	ITGA7_uc001shg.2_Missense_Mutation_p.W1104C|ITGA7_uc010sps.1_Missense_Mutation_p.W1011C|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.W351C|ITGA7_uc009znx.2_Missense_Mutation_p.W985C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1148	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GGGGGCTGCCCCAGTTGTTCC	0.682												
ERBB3	2065	broad.mit.edu	37	12	56481659	56481659	+	Missense_Mutation	SNP	G	G	A	rs67617070		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56481659G>A	uc001sjh.2	+	6	887	c.694G>A	c.(694-696)GCC>ACC	p.A232T	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.A173T|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	232	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGATGAGTGTGCCGGGGGCTG	0.542												
ERBB3	2065	broad.mit.edu	37	12	56487185	56487185	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56487185G>A	uc001sjh.2	+	12	1524	c.1331G>A	c.(1330-1332)CGA>CAA	p.R444Q	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R385Q|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R12Q	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	444	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGCTTCCGATCCCTGAAG	0.493												
SMARCC2	6601	broad.mit.edu	37	12	56561898	56561898	+	Missense_Mutation	SNP	G	G	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56561898G>C	uc001skb.2	-	25	2809	c.2703C>G	c.(2701-2703)ATC>ATG	p.I901M	SMARCC2_uc001skd.2_Missense_Mutation_p.I932M|SMARCC2_uc001ska.2_Missense_Mutation_p.I932M|SMARCC2_uc001skc.2_Missense_Mutation_p.I931M|SMARCC2_uc010sqf.1_Missense_Mutation_p.I821M	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	901					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.I901M(1)		lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCCGAAGTTTGATCTCCAACT	0.547												
SMARCC2	6601	broad.mit.edu	37	12	56567584	56567584	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56567584C>G	uc001skb.2	-	17	1652	c.1546G>C	c.(1546-1548)GCT>CCT	p.A516P	SMARCC2_uc001skd.2_Missense_Mutation_p.A516P|SMARCC2_uc001ska.2_Missense_Mutation_p.A516P|SMARCC2_uc001skc.2_Missense_Mutation_p.A516P|SMARCC2_uc010sqf.1_Missense_Mutation_p.A405P	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	516	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CGACTCTCAGCATCCACCTGG	0.572												
INHBC	3626	broad.mit.edu	37	12	57843561	57843561	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:57843561C>T	uc001snv.1	+	2	942	c.815C>T	c.(814-816)GCC>GTC	p.A272V		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	272					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						GAGGGCTACGCCATGAACTTC	0.542												
AVPR1A	552	broad.mit.edu	37	12	63544480	63544480	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:63544480C>T	uc001sro.1	-	1	2111	c.137G>A	c.(136-138)CGC>CAC	p.R46H		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	46	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCCTCGTTGCGCACGTCCCT	0.697												
TBK1	29110	broad.mit.edu	37	12	64891772	64891772	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:64891772G>T	uc001ssc.1	+	20	2153	c.2091G>T	c.(2089-2091)ATG>ATT	p.M697I		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	697	Potential.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		AGGAAGAGATGGAAGGGGTGG	0.294												
GRIP1	23426	broad.mit.edu	37	12	66800084	66800084	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:66800084G>A	uc001stk.2	-	15	2048	c.1807C>T	c.(1807-1809)CGC>TGC	p.R603C	GRIP1_uc010sta.1_Missense_Mutation_p.R547C|GRIP1_uc001stj.2_Missense_Mutation_p.R385C|GRIP1_uc001stl.1_Missense_Mutation_p.R495C|GRIP1_uc001stm.2_Missense_Mutation_p.R603C	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	655	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATCTTTGCGGATTTTGAGC	0.393												
E2F7	144455	broad.mit.edu	37	12	77440093	77440093	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:77440093C>T	uc001sym.3	-	5	790	c.554G>A	c.(553-555)CGC>CAC	p.R185H	E2F7_uc001syn.2_Missense_Mutation_p.R185H	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	185	Potential.			R->A: Loss of DNA-binding and inhibition of E2F1-dependent activation.	cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GTCATAGATGCGTCTCCTTTC	0.488												
NAV3	89795	broad.mit.edu	37	12	78225343	78225343	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:78225343A>G	uc001syp.2	+	1	275	c.102A>G	c.(100-102)TCA>TCG	p.S34S	NAV3_uc001syo.2_Silent_p.S34S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	34						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTACTGGGTCACAGCACTGTT	0.473										HNSCC(70;0.22)		
NAV3	89795	broad.mit.edu	37	12	78592446	78592446	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:78592446C>T	uc001syp.2	+	36	6681	c.6508C>T	c.(6508-6510)CAC>TAC	p.H2170Y	NAV3_uc001syo.2_Missense_Mutation_p.H2148Y|NAV3_uc010sub.1_Missense_Mutation_p.H1627Y|NAV3_uc009zsf.2_Missense_Mutation_p.H979Y	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2170						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AGAGCTGCATCACAATTTCAG	0.348										HNSCC(70;0.22)		
PPFIA2	8499	broad.mit.edu	37	12	82147944	82147944	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:82147944C>A	uc001szo.1	-	3	218	c.57G>T	c.(55-57)GGG>GGT	p.G19G	PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(3)|lung(2)|pancreas(1)	6						TGCTTTGGGACCCCCTTTGGC	0.478												
RASSF9	9182	broad.mit.edu	37	12	86198882	86198882	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:86198882C>T	uc001taf.1	-	2	1245	c.906G>A	c.(904-906)GCG>GCA	p.A302A		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	302					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						CTTCCCCTTCCGCATCTTCAT	0.363												
GALNT4	8693	broad.mit.edu	37	12	89917656	89917656	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:89917656G>A	uc001tbd.2	-	1	880	c.671C>T	c.(670-672)ACT>ATT	p.T224I	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.T221I|GALNT4_uc010suo.1_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	224	Lumenal (Potential).|Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0						ATCCAGGAAAGTGAGGACGTC	0.507											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EEA1	8411	broad.mit.edu	37	12	93170622	93170622	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:93170622G>A	uc001tck.2	-	28	4376	c.4111C>T	c.(4111-4113)CGG>TGG	p.R1371W		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1371	FYVE-type.			R->A: Abolishes phosphatidylinositol 3- phosphate binding and endosomal location.	early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TTATTTACCCGTCTCACTGTT	0.348												
PLXNC1	10154	broad.mit.edu	37	12	94620456	94620456	+	Silent	SNP	C	C	T	rs139278274	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:94620456C>T	uc001tdc.2	+	8	2115	c.1866C>T	c.(1864-1866)TGC>TGT	p.C622C		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	622	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TCACAGCTTGCGACCCTTCTG	0.363												
UHRF1BP1L	23074	broad.mit.edu	37	12	100453799	100453799	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:100453799G>A	uc001tgq.2	-	13	1801	c.1572C>T	c.(1570-1572)AGC>AGT	p.S524S	UHRF1BP1L_uc001tgp.2_Silent_p.S174S	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	524										ovary(2)	2						CATTCAGCTGGCTATAGAGGT	0.343												
ACTR6	64431	broad.mit.edu	37	12	100606103	100606103	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:100606103G>T	uc001thb.1	+	7	698	c.642G>T	c.(640-642)CAG>CAT	p.Q214H	ACTR6_uc001thc.1_Missense_Mutation_p.Q106H|ACTR6_uc001thd.1_Missense_Mutation_p.Q214H|ACTR6_uc009ztu.1_Missense_Mutation_p.Q19H|ACTR6_uc001the.1_Missense_Mutation_p.Q132H|ACTR6_uc001thf.1_Missense_Mutation_p.Q132H|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	214						cytoplasm|cytoskeleton				ovary(1)	1						ATGTGTCTCAGGATTTTTATA	0.308												
MYBPC1	4604	broad.mit.edu	37	12	102069194	102069194	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:102069194T>C	uc001tii.2	+	25	3015	c.2913T>C	c.(2911-2913)GCT>GCC	p.A971A	MYBPC1_uc001tig.2_Silent_p.A978A|MYBPC1_uc010svq.1_Silent_p.A940A|MYBPC1_uc001tih.2_Silent_p.A978A|MYBPC1_uc001tij.2_Silent_p.A953A|MYBPC1_uc010svr.1_Silent_p.A953A|MYBPC1_uc010svs.1_Silent_p.A971A|MYBPC1_uc010svt.1_Silent_p.A941A|MYBPC1_uc010svu.1_Silent_p.A934A|MYBPC1_uc001tik.2_Silent_p.A927A|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	971	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						TTCAGAAGGCTGACAAGAAGA	0.473												
CMKLR1	1240	broad.mit.edu	37	12	108686284	108686284	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:108686284G>A	uc009zuw.2	-	3	647	c.456C>T	c.(454-456)AGC>AGT	p.S152S	CMKLR1_uc001tmw.2_Silent_p.S152S|CMKLR1_uc001tmv.2_Silent_p.S150S|CMKLR1_uc009zuv.2_Silent_p.S152S	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	152	Cytoplasmic (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						CCAGGCGAACGCTGCGGTGGT	0.572												
USP30	84749	broad.mit.edu	37	12	109509448	109509448	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:109509448C>T	uc010sxi.1	+	5	616	c.512C>T	c.(511-513)TCG>TTG	p.S171L	USP30_uc001tnu.3_Missense_Mutation_p.S140L	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	171	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						GTCATTACCTCGTCATTGGAA	0.468												
MMAB	326625	broad.mit.edu	37	12	110006573	110006573	+	Splice_Site	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:110006573A>G	uc001tou.2	-	3	363	c.290_splice	c.e3+1	p.G97_splice	MMAB_uc001tov.2_Splice_Site|MMAB_uc001tow.2_Splice_Site|MMAB_uc010sxq.1_Splice_Site|MMAB_uc001tox.2_Intron	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor						cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCCCCCTTACCCAATAGCT	0.488												
RPH3A	22895	broad.mit.edu	37	12	113314521	113314521	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:113314521G>T	uc010syl.1	+	13	1383	c.1021G>T	c.(1021-1023)GCA>TCA	p.A341S	RPH3A_uc001ttz.2_Missense_Mutation_p.A341S|RPH3A_uc001tty.2_Missense_Mutation_p.A337S|RPH3A_uc009zwe.1_Missense_Mutation_p.A337S|RPH3A_uc010sym.1_Missense_Mutation_p.A292S|RPH3A_uc001tua.2_Missense_Mutation_p.A101S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	341	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGCTACCCAGCAGTTGGAGC	0.662												
LHX5	64211	broad.mit.edu	37	12	113906026	113906026	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:113906026G>A	uc001tvj.1	-	3	1155	c.581C>T	c.(580-582)ACG>ATG	p.T194M		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	194	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCCTTGAGCGTCTCCAGCTG	0.682												
LHX5	64211	broad.mit.edu	37	12	113909232	113909232	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:113909232C>T	uc001tvj.1	-	1	646	c.72G>A	c.(70-72)GCG>GCA	p.A24A		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	24	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGATGTGCCACGCGCGGTCCA	0.612												
TBX5	6910	broad.mit.edu	37	12	114793771	114793771	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:114793771G>A	uc001tvo.2	-	9	1618	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W	TBX5_uc001tvp.2_Missense_Mutation_p.R375W|TBX5_uc001tvq.2_Missense_Mutation_p.R325W	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	375					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	p.R375W(1)		ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAAGCTTGCCGCTGTGCCGAC	0.592												
RNFT2	84900	broad.mit.edu	37	12	117217143	117217143	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:117217143T>C	uc009zwn.2	+	7	1105	c.872T>C	c.(871-873)GTC>GCC	p.V291A	RNFT2_uc001twb.3_Missense_Mutation_p.V291A|RNFT2_uc001twa.3_Missense_Mutation_p.V201A|RNFT2_uc001twc.3_Missense_Mutation_p.V39A	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	291	Cytoplasmic (Potential).					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ATCCTGGCTGTCAAGTCCAAG	0.547												
KSR2	283455	broad.mit.edu	37	12	117962692	117962692	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:117962692G>A	uc001two.2	-	14	2152	c.2097C>T	c.(2095-2097)GCC>GCT	p.A699A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	728	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTCATGCAGGCACCCATGA	0.502												
CIT	11113	broad.mit.edu	37	12	120156088	120156088	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:120156088G>A	uc001txi.1	-	31	4057	c.4004C>T	c.(4003-4005)CCG>CTG	p.P1335L	CIT_uc001txh.1_Missense_Mutation_p.P854L|CIT_uc001txj.1_Missense_Mutation_p.P1377L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1335					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTGGATGGCGGGGCCAGCAG	0.577												
GCN1L1	10985	broad.mit.edu	37	12	120584908	120584908	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:120584908C>T	uc001txo.2	-	38	4908	c.4895G>A	c.(4894-4896)CGG>CAG	p.R1632Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1632	HEAT 11.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCATCTTCCGCGTGTCCGT	0.552												
WDR66	144406	broad.mit.edu	37	12	122361622	122361622	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:122361622T>G	uc009zxk.2	+	3	615	c.473T>G	c.(472-474)TTT>TGT	p.F158C		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	158							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAATTGAATTTCTTGATTTG	0.438												
LRRC43	254050	broad.mit.edu	37	12	122667814	122667814	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:122667814C>T	uc009zxm.2	+	1	148	c.123C>T	c.(121-123)CGC>CGT	p.R41R	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	41											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGTGTCTGCGCGAGTTCCCGT	0.771												
LRRC43	254050	broad.mit.edu	37	12	122676097	122676097	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:122676097G>A	uc009zxm.2	+	6	1097	c.1072G>A	c.(1072-1074)GCG>ACG	p.A358T	LRRC43_uc001ubw.3_Missense_Mutation_p.A173T|LRRC43_uc009zxn.2_Missense_Mutation_p.A119T	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	358	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GAATGAGTCCGCGGGCGTCCT	0.527											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SBNO1	55206	broad.mit.edu	37	12	123829930	123829930	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:123829930G>A	uc010tap.1	-	3	425	c.425C>T	c.(424-426)GCC>GTC	p.A142V	SBNO1_uc010tao.1_Missense_Mutation_p.A141V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.A142V|SBNO1_uc001ueu.2_Missense_Mutation_p.A141V|SBNO1_uc001uev.2_Missense_Mutation_p.A140V|SBNO1_uc009zxy.1_Missense_Mutation_p.A107V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	142							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGAGGTCATGGCATTTCGTAC	0.413												
SLC15A4	121260	broad.mit.edu	37	12	129299599	129299599	+	Missense_Mutation	SNP	G	G	A	rs144816528	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:129299599G>A	uc001uhu.2	-	2	616	c.563C>T	c.(562-564)CCG>CTG	p.P188L	SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	188					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGCTTCCGGACCTCGATC	0.403												
FZD10	11211	broad.mit.edu	37	12	130647672	130647672	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:130647672G>A	uc001uii.2	+	1	641	c.185G>A	c.(184-186)CGC>CAC	p.R62H	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	62	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGAACCAGCGCGAGGCAGCC	0.637												
SFRS8	6433	broad.mit.edu	37	12	132281836	132281836	+	Missense_Mutation	SNP	C	C	T	rs140639709	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:132281836C>T	uc001uja.1	+	16	2788	c.2648C>T	c.(2647-2649)GCG>GTG	p.A883V	SFRS8_uc010tbn.1_Missense_Mutation_p.A935V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	883	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		gcggcccccgcggcccACTCG	0.557												
TNFRSF19	55504	broad.mit.edu	37	13	24233225	24233225	+	Missense_Mutation	SNP	C	C	T	rs139502219		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:24233225C>T	uc001uov.1	+	6	546	c.482C>T	c.(481-483)ACG>ATG	p.T161M	TNFRSF19_uc001uot.2_Missense_Mutation_p.T161M|TNFRSF19_uc010tcu.1_Missense_Mutation_p.T29M|TNFRSF19_uc001uow.2_Missense_Mutation_p.T161M	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	161	Extracellular (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		ATCGCGTCCACGGCCTCCAGC	0.587												
FLT1	2321	broad.mit.edu	37	13	28897011	28897011	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:28897011G>T	uc001usb.3	-	21	3154	c.2869C>A	c.(2869-2871)CTA>ATA	p.L957I	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.L82I|FLT1_uc001usa.3_Missense_Mutation_p.L175I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	957	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACGCTATCTAGTCTTGGTTTC	0.478												
FRY	10129	broad.mit.edu	37	13	32758746	32758746	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:32758746C>T	uc001utx.2	+	25	3560	c.3064C>T	c.(3064-3066)CGC>TGC	p.R1022C	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAACAAGAAACGCCGAGAACG	0.368												
BRCA2	675	broad.mit.edu	37	13	32912505	32912505	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:32912505G>A	uc001uub.1	+	11	4240	c.4013G>A	c.(4012-4014)GGC>GAC	p.G1338D		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1338					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.G1338G(1)		ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAATTTGATGGCAGTGATTCA	0.303			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
BRCA2	675	broad.mit.edu	37	13	32914237	32914237	+	Silent	SNP	G	G	A	rs1799953		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:32914237G>A	uc001uub.1	+	11	5972	c.5745G>A	c.(5743-5745)ACG>ACA	p.T1915T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1915					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATGTAGCACGCATTCACATA	0.343			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
NBEA	26960	broad.mit.edu	37	13	35517248	35517248	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:35517248C>T	uc001uvb.2	+	2	497	c.291C>T	c.(289-291)AAC>AAT	p.N97N		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	97						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CGGTGCTCAACCTGGTAAGGA	0.587												
SMAD9	4093	broad.mit.edu	37	13	37453576	37453576	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:37453576C>T	uc001uvw.2	-	2	594	c.251G>A	c.(250-252)CGC>CAC	p.R84H	SMAD9_uc001uvx.2_Missense_Mutation_p.R84H|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	84	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CAGGCCCTTGCGGTGGGACAC	0.657												
POSTN	10631	broad.mit.edu	37	13	38145526	38145526	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:38145526A>G	uc001uwo.3	-	18	2277	c.2159T>C	c.(2158-2160)ATA>ACA	p.I720T	POSTN_uc010tet.1_Missense_Mutation_p.I221T|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Missense_Mutation_p.I693T|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.I693T|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	720					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CACTTCAGTTATTGTTTCACC	0.378												
MRPS31	10240	broad.mit.edu	37	13	41328182	41328182	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:41328182C>T	uc001uxm.3	-	5	862	c.787G>A	c.(787-789)GCA>ACA	p.A263T		NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	263						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TTAGTAACTGCCATCATGTCA	0.313												
AKAP11	11215	broad.mit.edu	37	13	42874607	42874607	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:42874607A>G	uc001uys.1	+	8	1900	c.1725A>G	c.(1723-1725)TCA>TCG	p.S575S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	575					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAGTCTCTTCATGTACCAATG	0.368												
PCDH20	64881	broad.mit.edu	37	13	61987886	61987886	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:61987886G>A	uc001vid.3	-	2	710	c.346C>T	c.(346-348)CCT>TCT	p.P116S	PCDH20_uc010thj.1_Missense_Mutation_p.P116S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	89	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGGAGAGAGGGGGGTTCCAC	0.682												
TBC1D4	9882	broad.mit.edu	37	13	75866265	75866265	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:75866265G>T	uc001vjl.1	-	19	3806	c.3459C>A	c.(3457-3459)ACC>ACA	p.T1153T	TBC1D4_uc010tht.1_Silent_p.T363T|TBC1D4_uc010thu.1_Silent_p.T310T|TBC1D4_uc010aer.2_Silent_p.T1145T|TBC1D4_uc010aes.2_Silent_p.T1090T	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1153						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCATTTCAGAGGTATTCATAT	0.318												
TBC1D4	9882	broad.mit.edu	37	13	75873672	75873672	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:75873672G>A	uc001vjl.1	-	17	3297	c.2950C>T	c.(2950-2952)CTT>TTT	p.L984F	TBC1D4_uc010tht.1_Missense_Mutation_p.L194F|TBC1D4_uc010thu.1_Missense_Mutation_p.L141F|TBC1D4_uc010aer.2_Missense_Mutation_p.L976F|TBC1D4_uc010aes.2_Missense_Mutation_p.L921F	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	984	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCTGGCCCAAGCTGTACTGAA	0.458												
SLAIN1	122060	broad.mit.edu	37	13	78293734	78293734	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:78293734A>G	uc010thy.1	+	2	245	c.202A>G	c.(202-204)AGA>GGA	p.R68G	SLAIN1_uc001vkk.1_5'UTR	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	210										ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GCAGTGGTGTAGACATGTCCT	0.418												
POU4F1	5457	broad.mit.edu	37	13	79175721	79175721	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:79175721G>A	uc001vkv.2	-	2	1323	c.1089C>T	c.(1087-1089)GCC>GCT	p.A363A	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	363	Homeobox.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGGGCGCGGCGATGGAAG	0.652												
SLITRK5	26050	broad.mit.edu	37	13	88328903	88328903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:88328903C>A	uc001vln.2	+	2	1479	c.1260C>A	c.(1258-1260)TAC>TAA	p.Y420*	SLITRK5_uc010tic.1_Nonsense_Mutation_p.Y179*	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	420	LRR 7.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGAGAACTACATCGCTGTCG	0.567												
SLITRK5	26050	broad.mit.edu	37	13	88329623	88329623	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:88329623G>A	uc001vln.2	+	2	2199	c.1980G>A	c.(1978-1980)TCG>TCA	p.S660S	SLITRK5_uc010tic.1_Silent_p.S419S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	660	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGCGTCGTCGGTGCCCTTGT	0.642												
CLDN10	9071	broad.mit.edu	37	13	96086249	96086249	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:96086249C>T	uc001vmg.2	+	1	397	c.162C>T	c.(160-162)AAC>AAT	p.N54N	CLDN10_uc010tii.1_Intron	NM_182848	NP_878268	P78369	CLD10_HUMAN	claudin 10 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCGCAGGTAACGCGTTGGGTT	0.488												
DOCK9	23348	broad.mit.edu	37	13	99459997	99459997	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:99459997G>A	uc001vnt.2	-	50	5532	c.5477C>T	c.(5476-5478)TCG>TTG	p.S1826L	DOCK9_uc001vnw.2_Missense_Mutation_p.S1825L|DOCK9_uc001vnq.2_Missense_Mutation_p.S373L|DOCK9_uc001vnr.2_Missense_Mutation_p.S455L|DOCK9_uc010tin.1_Missense_Mutation_p.S444L|DOCK9_uc001vns.2_Missense_Mutation_p.S361L|DOCK9_uc010tio.1_Missense_Mutation_p.S481L|DOCK9_uc010tip.1_Missense_Mutation_p.S522L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1826	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAATTTCCGACAGCGGTGT	0.393												
NALCN	259232	broad.mit.edu	37	13	101714336	101714336	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:101714336A>G	uc001vox.1	-	41	4928	c.4739T>C	c.(4738-4740)CTG>CCG	p.L1580P		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1580	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATGCGCTTCAGGCACTTCTT	0.483												
COL4A2	1284	broad.mit.edu	37	13	111164351	111164351	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:111164351G>T	uc001vqx.2	+	48	5241	c.4952G>T	c.(4951-4953)CGC>CTC	p.R1651L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1651	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGGACTTCCGCGCCACACCA	0.617												
MCF2L	23263	broad.mit.edu	37	13	113742666	113742666	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:113742666C>T	uc001vsu.2	+	24	2907	c.2885C>T	c.(2884-2886)GCG>GTG	p.A962V	MCF2L_uc001vsq.2_Missense_Mutation_p.A962V|MCF2L_uc010tjr.1_Missense_Mutation_p.A905V|MCF2L_uc001vsr.2_Missense_Mutation_p.A909V|MCF2L_uc001vss.3_Missense_Mutation_p.A903V|MCF2L_uc010tjs.1_Missense_Mutation_p.A903V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	935	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				ATTAAAGCCGCGTGGGTGAAT	0.552												
PCID2	55795	broad.mit.edu	37	13	113838692	113838692	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:113838692C>T	uc010tju.1	-	9	734	c.653G>A	c.(652-654)CGC>CAC	p.R218H	PCID2_uc001vtb.2_Missense_Mutation_p.R51H|PCID2_uc010tjv.1_Missense_Mutation_p.R218H|PCID2_uc010tjw.1_Missense_Mutation_p.R218H|PCID2_uc001vte.2_Missense_Mutation_p.R111H|PCID2_uc001vtd.2_Missense_Mutation_p.R111H|PCID2_uc001vtf.2_Missense_Mutation_p.R111H	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	218					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATAGCCTTGCGTCCAACGTA	0.358												
GAS6	2621	broad.mit.edu	37	13	114538550	114538550	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:114538550G>A	uc001vud.2	-	7	801	c.648C>T	c.(646-648)CCC>CCT	p.P216P	GAS6_uc001vug.2_5'Flank|GAS6_uc001vuf.2_5'UTR	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	216	EGF-like 3; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGTAGGAGCCGGGCAGGTTCT	0.627												
TEP1	7011	broad.mit.edu	37	14	20841475	20841475	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:20841475G>T	uc001vxe.2	-	47	6808	c.6768C>A	c.(6766-6768)GCC>GCA	p.A2256A	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Silent_p.A1599A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.A2148A|TEP1_uc010tlh.1_Silent_p.A594A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2256	WD 15.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATCCTCAGAGGCGGTCAGCA	0.567												
FLJ10357	55701	broad.mit.edu	37	14	21543656	21543656	+	Missense_Mutation	SNP	C	C	T	rs143657914		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:21543656C>T	uc001vzp.2	+	4	1645	c.1616C>T	c.(1615-1617)ACG>ATG	p.T539M	FLJ10357_uc001vzn.1_Missense_Mutation_p.T539M|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Translation_Start_Site	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	539					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CTCATCCTGACGGGTCAGTGG	0.562												
RPGRIP1	57096	broad.mit.edu	37	14	21769213	21769213	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:21769213C>T	uc001wag.2	+	3	307	c.307C>T	c.(307-309)CGC>TGC	p.R103C		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	103					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GACCGCAAGGCGCGGGCAGAA	0.706												
MYH6	4624	broad.mit.edu	37	14	23869597	23869597	+	Silent	SNP	G	G	A	rs145447555	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:23869597G>A	uc001wjv.2	-	14	1516	c.1449C>T	c.(1447-1449)AAC>AAT	p.N483N	MYH6_uc010akp.1_Silent_p.N483N	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	483	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCAGCTTCTCGTTGGTGAAGT	0.537												
PSME1	5720	broad.mit.edu	37	14	24607279	24607279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:24607279C>T	uc001wmg.2	+	7	506	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	PSME1_uc001wmh.2_Nonsense_Mutation_p.Q138*	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	138					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		GTTGCAGCTGCAGATACCTCG	0.532												
RNF31	55072	broad.mit.edu	37	14	24626574	24626574	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:24626574G>A	uc001wmn.1	+	15	2818	c.2569G>A	c.(2569-2571)GCC>ACC	p.A857T	RNF31_uc001wml.1_Missense_Mutation_p.A706T|RNF31_uc010alg.1_Missense_Mutation_p.A616T|RNF31_uc001wmo.1_Missense_Mutation_p.A324T|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.A41T	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	857	IBR-type 2.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AGAATACCAGGCCCAGGGCCT	0.562												
AKAP6	9472	broad.mit.edu	37	14	33291716	33291716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:33291716C>A	uc001wrq.2	+	13	4867	c.4697C>A	c.(4696-4698)TCA>TAA	p.S1566*		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1566	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTCATAGTTCATCTATTGAG	0.408												
KIAA0391	9692	broad.mit.edu	37	14	35742707	35742707	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:35742707G>A	uc001wsy.1	+	8	2047	c.1687G>A	c.(1687-1689)GAC>AAC	p.D563N	KIAA0391_uc010tps.1_Missense_Mutation_p.D468N|KIAA0391_uc001wsz.1_Missense_Mutation_p.D547N|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.D547N|KIAA0391_uc001wtc.1_Missense_Mutation_p.D191N	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	563					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ATATGATGAAGACTTGGTAGA	0.403												
MGAT2	4247	broad.mit.edu	37	14	50088553	50088553	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:50088553A>G	uc001wwr.2	+	1	1065	c.567A>G	c.(565-567)CCA>CCG	p.P189P	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	189	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACGAGTTTCCAGGTAGTGACC	0.507												
NIN	51199	broad.mit.edu	37	14	51226994	51226994	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:51226994G>A	uc001wym.2	-	17	2171	c.1980C>T	c.(1978-1980)AAC>AAT	p.N660N	NIN_uc001wyi.2_Silent_p.N660N|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.N660N|NIN_uc010tqp.1_Silent_p.N666N|NIN_uc001wyo.2_Silent_p.N660N	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	660	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGCGTTTCGTTCTCATGCC	0.478			T	PDGFRB	MPD							
PYGL	5836	broad.mit.edu	37	14	51411117	51411117	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:51411117G>A	uc001wyu.2	-	1	132	c.5C>T	c.(4-6)GCG>GTG	p.A2V	PYGL_uc010tqq.1_Missense_Mutation_p.A2V|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.A2V	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	2				AK -> GE (in Ref. 1; AAA52577 and 3; AAC18079).	glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CAGGGGCTTCGCCATGGCTGG	0.602												
KIAA0586	9786	broad.mit.edu	37	14	58954677	58954677	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:58954677C>T	uc001xdv.3	+	22	3422	c.3149C>T	c.(3148-3150)GCG>GTG	p.A1050V	KIAA0586_uc010trr.1_Missense_Mutation_p.A1167V|KIAA0586_uc001xdt.3_Missense_Mutation_p.A1082V|KIAA0586_uc001xdu.3_Missense_Mutation_p.A1111V|KIAA0586_uc010trs.1_Missense_Mutation_p.A1041V|KIAA0586_uc010trt.1_Missense_Mutation_p.A986V|KIAA0586_uc010tru.1_Missense_Mutation_p.A986V	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1050										ovary(1)	1						CCTCCAGCGGCGGCAGTTTTT	0.448												
C14orf149	112849	broad.mit.edu	37	14	59942860	59942860	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:59942860C>T	uc001xee.1	-	3	790	c.751G>A	c.(751-753)GCT>ACT	p.A251T		NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	251							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	TTGGTATAAGCATCTTTTCCA	0.338												
JKAMP	51528	broad.mit.edu	37	14	59961932	59961932	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:59961932G>A	uc001xei.3	+	4	992	c.490G>A	c.(490-492)GTC>ATC	p.V164I	JKAMP_uc001xef.3_Missense_Mutation_p.V150I|JKAMP_uc001xeh.3_Missense_Mutation_p.V144I|JKAMP_uc001xeg.3_Missense_Mutation_p.V158I|JKAMP_uc010try.1_Missense_Mutation_p.V87I|JKAMP_uc001xej.3_Missense_Mutation_p.V87I	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	165	Helical; (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						TCATGAAGCCGTCTACCCACT	0.318												
SYT16	83851	broad.mit.edu	37	14	62547763	62547763	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:62547763G>A	uc001xfu.1	+	4	1402	c.1205G>A	c.(1204-1206)GGC>GAC	p.G402D	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	402	C2 1.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAACACAGGGGCAGGACGAAC	0.577												
SYNE2	23224	broad.mit.edu	37	14	64467370	64467370	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:64467370T>G	uc001xgm.2	+	28	3801	c.3571T>G	c.(3571-3573)TTT>GTT	p.F1191V	SYNE2_uc001xgl.2_Missense_Mutation_p.F1191V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1191	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAAAGCCTTTTGTAATTAA	0.313												
SPTB	6710	broad.mit.edu	37	14	65251050	65251050	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:65251050C>T	uc001xht.2	-	18	3971	c.3917G>A	c.(3916-3918)CGA>CAA	p.R1306Q	SPTB_uc001xhr.2_Missense_Mutation_p.R1306Q|SPTB_uc001xhs.2_Missense_Mutation_p.R1306Q|SPTB_uc001xhu.2_Missense_Mutation_p.R1306Q|SPTB_uc010aqi.2_5'Flank	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1306	Spectrin 10.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGAAGGTTTCGTGCTTCATC	0.478												
SPTB	6710	broad.mit.edu	37	14	65253729	65253729	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:65253729C>T	uc001xht.2	-	15	3008	c.2954G>A	c.(2953-2955)CGG>CAG	p.R985Q	SPTB_uc001xhr.2_Missense_Mutation_p.R985Q|SPTB_uc001xhs.2_Missense_Mutation_p.R985Q|SPTB_uc001xhu.2_Missense_Mutation_p.R985Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	985	Spectrin 7.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCAGGTCCCGCCCCAGGTC	0.602												
FNTB	2342	broad.mit.edu	37	14	65392757	65392757	+	Missense_Mutation	SNP	G	G	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:65392757G>C	uc010tsl.1	+	3	279	c.205G>C	c.(205-207)GCC>CCC	p.A69P	CHURC1_uc010tsj.1_Missense_Mutation_p.A69P|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsm.1_Intron|CHURC1_uc001xhv.1_Missense_Mutation_p.A70P|CHURC1_uc001xhw.1_Missense_Mutation_p.A69P	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	Error:Variant_position_missing_in_P49356_after_alignment					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TCATGTAATAGCCAGACATGA	0.289												
SLC8A3	6547	broad.mit.edu	37	14	70517819	70517819	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:70517819C>T	uc001xly.2	-	6	2791	c.2037G>A	c.(2035-2037)ACG>ACA	p.T679T	SLC8A3_uc001xlu.2_Silent_p.T36T|SLC8A3_uc001xlv.2_Silent_p.T50T|SLC8A3_uc001xlw.2_Silent_p.T676T|SLC8A3_uc001xlx.2_Silent_p.T677T|SLC8A3_uc001xlz.2_Silent_p.T673T|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.T36T	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	679	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTGTCCACCGTAGTCTGTT	0.488												
PCNX	22990	broad.mit.edu	37	14	71479728	71479728	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:71479728T>C	uc001xmo.2	+	11	3251	c.2805T>C	c.(2803-2805)AAT>AAC	p.N935N	PCNX_uc010are.1_Silent_p.N824N|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	935						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTCGATTGAATAGACTATTGA	0.348												
HEATR4	399671	broad.mit.edu	37	14	73945320	73945320	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:73945320A>G	uc010tua.1	-	18	3341	c.2931T>C	c.(2929-2931)GCT>GCC	p.A977A	uc001xoi.1_RNA	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTTAGAGATGAGCACCTTTCT	0.418												
PNMA1	9240	broad.mit.edu	37	14	74179982	74179982	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:74179982G>A	uc001xor.1	-	1	1147	c.361C>T	c.(361-363)CGT>TGT	p.R121C		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	121					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccaaggacacgggcaacatct	0												
COQ6	51004	broad.mit.edu	37	14	74428588	74428588	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:74428588T>C	uc001xph.2	+	11	1439	c.1359T>C	c.(1357-1359)AAT>AAC	p.N453N	ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Silent_p.N378N|COQ6_uc001xpf.2_Silent_p.N378N|COQ6_uc010tuk.1_Silent_p.N428N|COQ6_uc001xpg.2_Intron	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	453					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AGGCCACAAATGCAGTGTCTC	0.398												
LTBP2	4053	broad.mit.edu	37	14	75002696	75002696	+	Silent	SNP	C	C	T	rs144293300	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:75002696C>T	uc001xqa.2	-	9	2184	c.1797G>A	c.(1795-1797)CCG>CCA	p.P599P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	599	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCTCAATCACCGGGGAGGCTG	0.622												
ESRRB	2103	broad.mit.edu	37	14	76905756	76905756	+	Silent	SNP	G	G	A	rs1064434		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:76905756G>A	uc001xsq.1	+	2	127	c.60G>A	c.(58-60)CCG>CCA	p.P20P	ESRRB_uc001xsr.2_Silent_p.P20P|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGACTGAGCCGTCCAGCCCGT	0.672												
C14orf174	161394	broad.mit.edu	37	14	77846757	77846757	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:77846757G>A	uc001xtq.1	+	2	1721	c.1721G>A	c.(1720-1722)CGA>CAA	p.R574Q		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	574	SAM.										0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ATCAGTGGCCGAAAACTCATT	0.363												
NRXN3	9369	broad.mit.edu	37	14	80164095	80164095	+	Missense_Mutation	SNP	G	G	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:80164095G>C	uc001xun.2	+	15	3111	c.2620G>C	c.(2620-2622)GCG>CCG	p.A874P	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A242P|NRXN3_uc010asw.2_Missense_Mutation_p.A272P|NRXN3_uc001xur.3_Missense_Mutation_p.A242P	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1247	Extracellular (Potential).|Laminin G-like 6.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACTGAACATGGCGGCTGAGAA	0.483												
STON2	85439	broad.mit.edu	37	14	81837459	81837459	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:81837459A>G	uc010tvu.1	-	3	645	c.444T>C	c.(442-444)TCT>TCC	p.S148S	STON2_uc001xvk.1_Silent_p.S148S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	148					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTGCTCTCAGAAGTCAGAG	0.532												
PTPN21	11099	broad.mit.edu	37	14	88945359	88945359	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:88945359G>A	uc001xwv.3	-	13	2747	c.2416C>T	c.(2416-2418)CGC>TGC	p.R806C	PTPN21_uc010twc.1_Missense_Mutation_p.R602C	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	806						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GCTCGGTAGCGGCCTGACGTG	0.657												
PTPN21	11099	broad.mit.edu	37	14	88946027	88946027	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:88946027C>T	uc001xwv.3	-	13	2079	c.1748G>A	c.(1747-1749)CGC>CAC	p.R583H	PTPN21_uc010twc.1_Missense_Mutation_p.R379H	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	583						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GTAAAGGTGGCGGGACAGGTC	0.677												
BTBD7	55727	broad.mit.edu	37	14	93760654	93760654	+	Missense_Mutation	SNP	G	G	A	rs143569452		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:93760654G>A	uc001ybo.2	-	3	1038	c.712C>T	c.(712-714)CGT>TGT	p.R238C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.R153C|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.R153C|BTBD7_uc001ybr.2_Missense_Mutation_p.R238C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	238										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAGAGTCCACGCATATCTACA	0.383												
KIAA1409	57578	broad.mit.edu	37	14	94173056	94173056	+	Missense_Mutation	SNP	T	T	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:94173056T>A	uc001ybv.1	+	48	7332	c.7249T>A	c.(7249-7251)TCT>ACT	p.S2417T	KIAA1409_uc001ybs.1_Missense_Mutation_p.S2395T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2572						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		ACAGCACTTATCTGCGGGACT	0.577												
DICER1	23405	broad.mit.edu	37	14	95574428	95574428	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:95574428A>G	uc001ydw.2	-	17	2621	c.2439T>C	c.(2437-2439)ATT>ATC	p.I813I	DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Silent_p.I803I|DICER1_uc001ydx.2_Silent_p.I813I	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	813					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GAAAGTGTGGAATCTTAGCAA	0.373			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
DICER1	23405	broad.mit.edu	37	14	95590932	95590932	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:95590932A>G	uc001ydw.2	-	9	1159	c.977T>C	c.(976-978)GTA>GCA	p.V326A	DICER1_uc001ydv.2_Missense_Mutation_p.V316A|DICER1_uc001ydx.2_Missense_Mutation_p.V326A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	326	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAGTTCTCTTACCATCATTCC	0.378			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
CLMN	79789	broad.mit.edu	37	14	95670279	95670279	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:95670279A>G	uc001yef.2	-	9	1523	c.1407T>C	c.(1405-1407)GCT>GCC	p.A469A		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	469						integral to membrane	actin binding				0				Epithelial(152;0.193)		CCTTTTCCTCAGCAACCTCAA	0.468												
DYNC1H1	1778	broad.mit.edu	37	14	102452991	102452991	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:102452991A>G	uc001yks.2	+	8	2593	c.2429A>G	c.(2428-2430)AAG>AGG	p.K810R		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	810	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GGCTTGAAAAAGGAAGTGCAG	0.517												
DYNC1H1	1778	broad.mit.edu	37	14	102493518	102493518	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:102493518C>T	uc001yks.2	+	45	8943	c.8779C>T	c.(8779-8781)CGT>TGT	p.R2927C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2927	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAGAATATTCCGTCAACCTCA	0.428												
DYNC1H1	1778	broad.mit.edu	37	14	102505519	102505519	+	Silent	SNP	C	C	T	rs149806996		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:102505519C>T	uc001yks.2	+	60	11552	c.11388C>T	c.(11386-11388)ACC>ACT	p.T3796T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3796	Potential.				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGGTGGAGACCGTGTCCCAGC	0.577												
TRAF3	7187	broad.mit.edu	37	14	103338278	103338278	+	Silent	SNP	G	G	A	rs149018928		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:103338278G>A	uc001ymc.1	+	4	623	c.270G>A	c.(268-270)GCG>GCA	p.A90A	TRAF3_uc001yme.1_Silent_p.A90A|TRAF3_uc001ymd.1_Silent_p.A90A|TRAF3_uc010txy.1_Silent_p.A90A	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	90					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AATGTACAGCGTGTCAAGAGA	0.403												
CDC42BPB	9578	broad.mit.edu	37	14	103470322	103470322	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:103470322G>A	uc001ymi.1	-	4	622	c.390C>T	c.(388-390)AAC>AAT	p.N130N		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	130	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGCAGTCGCCGTTCACCAGCA	0.622												
TDRD9	122402	broad.mit.edu	37	14	104508506	104508506	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:104508506C>T	uc001yom.3	+	34	3986	c.3956C>T	c.(3955-3957)GCC>GTC	p.A1319V	TDRD9_uc001yon.3_Missense_Mutation_p.A866V	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1319					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAAGACATTGCCCGTCAGAAG	0.468												
ASPG	374569	broad.mit.edu	37	14	104570673	104570673	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:104570673C>T	uc001yoq.1	+	8	846	c.786C>T	c.(784-786)GGC>GGT	p.G262G	ASPG_uc001yoo.1_Silent_p.G290G|ASPG_uc001yop.1_Silent_p.G262G|ASPG_uc001yor.1_Silent_p.G262G	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	262	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						CCCTGAAGGGCGTGGTCATGG	0.677												
INF2	64423	broad.mit.edu	37	14	105174271	105174271	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105174271G>A	uc001ypb.2	+	8	1810	c.1667G>A	c.(1666-1668)CGG>CAG	p.R556Q	INF2_uc010tyi.1_Missense_Mutation_p.R556Q|INF2_uc001ypc.2_Missense_Mutation_p.R556Q|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGCCATCGGCGGGTGAACCCA	0.662												
AHNAK2	113146	broad.mit.edu	37	14	105407934	105407934	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105407934G>A	uc010axc.1	-	7	13974	c.13854C>T	c.(13852-13854)CAC>CAT	p.H4618H	AHNAK2_uc001ypx.2_Silent_p.H4518H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4618						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTACATCCTCGTGGGCCAGGG	0.552												
MTA1	9112	broad.mit.edu	37	14	105936475	105936475	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105936475C>T	uc001yqx.2	+	21	2258	c.2071C>T	c.(2071-2073)CGC>TGC	p.R691C	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R456C|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	691					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CATCGCCCTGCGCCAGAGCCA	0.652												
CRIP2	1397	broad.mit.edu	37	14	105945514	105945514	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105945514C>T	uc001yrd.1	+	6	528	c.459C>T	c.(457-459)TGC>TGT	p.C153C	CRIP2_uc010tyr.1_Silent_p.C227C|CRIP2_uc001yre.1_Silent_p.C153C|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	NM_001312	NP_001303	P52943	CRIP2_HUMAN	cysteine-rich protein 2	153	LIM zinc-binding 2.						zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCCTGCGCTGCGAGCGCTGCG	0.667												
ATP10A	57194	broad.mit.edu	37	15	25959170	25959170	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:25959170G>A	uc010ayu.2	-	10	2101	c.1995C>T	c.(1993-1995)ATC>ATT	p.I665I		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	665	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTTGCTGGCGATGGCCGAGG	0.682												
C15orf55	256646	broad.mit.edu	37	15	34640629	34640629	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:34640629C>T	uc001zif.2	+	2	631	c.476C>T	c.(475-477)CCG>CTG	p.P159L	C15orf55_uc010ucc.1_Missense_Mutation_p.P187L|C15orf55_uc010ucd.1_Missense_Mutation_p.P177L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	159	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCAGGCCTTCCGCCTCAGCCT	0.587			T	BRD3|BRD4	lethal midline carcinoma							
GJD2	57369	broad.mit.edu	37	15	35045231	35045231	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:35045231G>T	uc001zis.1	-	2	414	c.414C>A	c.(412-414)GGC>GGA	p.G138G	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	138	Cytoplasmic (Potential).|Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTCTCGTTTGCCCCCACCAC	0.532												
INO80	54617	broad.mit.edu	37	15	41364223	41364223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:41364223G>A	uc001zni.2	-	12	1642	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	477	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						GCAGCTGCTCGACTTTCTTTT	0.378												
RTF1	23168	broad.mit.edu	37	15	41762553	41762553	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:41762553C>T	uc001zny.2	+	7	1000	c.988C>T	c.(988-990)CGC>TGC	p.R330C		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	330	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAAGTCAGACCGCTCATCACG	0.448												
SHF	90525	broad.mit.edu	37	15	45464123	45464123	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:45464123C>T	uc001zuy.2	-	7	1538	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SHF_uc010uen.1_Missense_Mutation_p.R164H|SHF_uc010ueo.1_Missense_Mutation_p.R164H|SHF_uc010uep.1_Silent_p.A163A|SHF_uc010ueq.1_Intron|SHF_uc010uer.1_Intron|SHF_uc010ues.1_Missense_Mutation_p.R211H|SHF_uc010uet.1_Missense_Mutation_p.R164H|SHF_uc010ueu.1_Silent_p.A210A	NM_138356	NP_612365	Q7M4L6	SHF_HUMAN	Src homology 2 domain containing F	Error:Variant_position_missing_in_B3KTY1_after_alignment										ovary(1)	1		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CTCACTGTTGCGCACCAGGTA	0.587												
MYO5A	4644	broad.mit.edu	37	15	52720753	52720753	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:52720753T>G	uc002aby.2	-	3	396	c.152A>C	c.(151-153)CAT>CCT	p.H51P	MYO5A_uc002abx.3_Missense_Mutation_p.H51P|MYO5A_uc010uge.1_Intron	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	51	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGGATCTAGATGGTATTCCAA	0.453												
KIAA1370	56204	broad.mit.edu	37	15	52877021	52877021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:52877021G>A	uc002acg.3	-	12	3151	c.2998C>T	c.(2998-3000)CAA>TAA	p.Q1000*	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Nonsense_Mutation_p.Q912*|KIAA1370_uc002acf.3_Nonsense_Mutation_p.Q30*|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.Q1007*	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	1000											0				all cancers(107;0.0803)		TTCACTTCTTGTTTAACAGGT	0.368												
RFX7	64864	broad.mit.edu	37	15	56386689	56386689	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:56386689G>A	uc010bfn.2	-	9	3237	c.3237C>T	c.(3235-3237)GGC>GGT	p.G1079G	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.G893G	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	982					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						GAATACCATGGCCAGAAACTG	0.463												
HERC1	8925	broad.mit.edu	37	15	64026998	64026998	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:64026998T>C	uc002amp.2	-	13	2719	c.2571A>G	c.(2569-2571)TTA>TTG	p.L857L	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	857					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCCGTTCTCGTAATGGAGGTA	0.393												
TRIP4	9325	broad.mit.edu	37	15	64687698	64687698	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:64687698G>A	uc002anm.2	+	3	416	c.373G>A	c.(373-375)GCA>ACA	p.A125T		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	125					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						TGACACGACTGCAGAGGTTAA	0.423												
ITGA11	22801	broad.mit.edu	37	15	68619070	68619070	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:68619070G>A	uc002ari.2	-	17	2220	c.2133C>T	c.(2131-2133)GGC>GGT	p.G711G	ITGA11_uc010bib.2_Silent_p.G711G	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	711	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	ATCGGTCCCCGCCCTCGTCCA	0.617												
GRAMD2	196996	broad.mit.edu	37	15	72459382	72459382	+	Missense_Mutation	SNP	G	G	A	rs141536149		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:72459382G>A	uc002atq.2	-	6	448	c.424C>T	c.(424-426)CGG>TGG	p.R142W	GRAMD2_uc010bis.2_Missense_Mutation_p.R142W	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	142						integral to membrane					0						GGAAGGAGCCGTGCCATCTTG	0.572												
MPI	4351	broad.mit.edu	37	15	75189976	75189976	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:75189976G>A	uc002azc.1	+	8	1182	c.1177G>A	c.(1177-1179)GGT>AGT	p.G393S	MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Missense_Mutation_p.G343S|MPI_uc002aze.1_Missense_Mutation_p.G332S	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	393					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			ovary(2)	2						TCTGCAACGTGGTGGCGTGCT	0.552												
SNX33	257364	broad.mit.edu	37	15	75941857	75941857	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:75941857C>T	uc002bau.2	+	1	510	c.414C>T	c.(412-414)AAC>AAT	p.N138N	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	138					cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						TGGGCACCAACGGGCACCCTC	0.642												
SNX33	257364	broad.mit.edu	37	15	75942196	75942196	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:75942196C>A	uc002bau.2	+	1	849	c.753C>A	c.(751-753)TCC>TCA	p.S251S	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	251	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						GCTACATCTCCTACAAGCTCA	0.542												
MESDC2	23184	broad.mit.edu	37	15	81271767	81271767	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:81271767G>A	uc002bfy.1	-	3	571	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	166	Escort domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						TCTCCCAGGCGTAGCTCCCAT	0.537												
MEX3B	84206	broad.mit.edu	37	15	82335526	82335526	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:82335526G>A	uc002bgq.1	-	2	2000	c.1685C>T	c.(1684-1686)ACT>ATT	p.T562I		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	562					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						GATGGCCTGAGTGACCGCGGT	0.652												
HOMER2	9455	broad.mit.edu	37	15	83518521	83518521	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:83518521A>G	uc002bjg.2	-	9	1197	c.1011T>C	c.(1009-1011)ATT>ATC	p.I337I	HOMER2_uc002bjh.2_Silent_p.I326I|HOMER2_uc002bjj.2_Silent_p.I271I|HOMER2_uc002bji.2_Silent_p.I282I	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	337					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						GCAGGTCGTCAATCTTCCCGT	0.597											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDE8A	5151	broad.mit.edu	37	15	85660938	85660938	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:85660938C>T	uc002blh.2	+	17	1791	c.1602C>T	c.(1600-1602)TCC>TCT	p.S534S	PDE8A_uc002bli.2_Silent_p.S488S|PDE8A_uc010bnc.2_Silent_p.S287S|PDE8A_uc010bnd.2_Silent_p.S287S|PDE8A_uc002blj.2_Silent_p.S154S|PDE8A_uc002blk.2_Silent_p.S154S|PDE8A_uc002bll.2_5'Flank	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	534	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TACACTGCTCCGAGTCAACGC	0.393												
AKAP13	11214	broad.mit.edu	37	15	86124395	86124395	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:86124395C>A	uc002blv.1	+	7	3266	c.3096C>A	c.(3094-3096)GCC>GCA	p.A1032A	AKAP13_uc002blt.1_Silent_p.A1032A|AKAP13_uc002blu.1_Silent_p.A1032A|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1032					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GGCAGGAAGCCTTGGGGGCAG	0.597												
AKAP13	11214	broad.mit.edu	37	15	86284413	86284413	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:86284413A>G	uc002blv.1	+	35	7915	c.7745A>G	c.(7744-7746)CAG>CGG	p.Q2582R	AKAP13_uc002blu.1_Missense_Mutation_p.Q2586R|AKAP13_uc002blw.1_Missense_Mutation_p.Q1047R|AKAP13_uc002blx.1_Missense_Mutation_p.Q827R	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2582	Interaction with ESR1.|Potential.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAGCAGCGCCAGGACCTGGCC	0.662												
ACAN	176	broad.mit.edu	37	15	89392870	89392870	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:89392870G>T	uc010upo.1	+	10	2308	c.1934G>T	c.(1933-1935)GGG>GTG	p.G645V	ACAN_uc002bmx.2_Missense_Mutation_p.G645V|ACAN_uc010upp.1_Missense_Mutation_p.G645V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	645					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCTGCGGTGGGGACAAGCCA	0.672												
RLBP1	6017	broad.mit.edu	37	15	89760393	89760393	+	Missense_Mutation	SNP	C	C	T	rs143121722		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:89760393C>T	uc002bnl.2	-	5	684	c.304G>A	c.(304-306)GCA>ACA	p.A102T		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	102					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AACTTCCGTGCGCGGATGAAG	0.662												
FES	2242	broad.mit.edu	37	15	91433488	91433488	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:91433488C>T	uc002bpv.2	+	9	1312	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	FES_uc010uqj.1_Missense_Mutation_p.R348C|FES_uc010uqk.1_Missense_Mutation_p.R388C|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.R348C|FES_uc002bpx.2_Missense_Mutation_p.R406C|FES_uc002bpy.2_Missense_Mutation_p.R348C	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	406					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGGATGACCGCCACTCCAC	0.721												
ADAMTS17	170691	broad.mit.edu	37	15	100636613	100636613	+	Silent	SNP	G	G	A	rs141443664		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:100636613G>A	uc002bvv.1	-	15	2164	c.2085C>T	c.(2083-2085)GAC>GAT	p.D695D	ADAMTS17_uc002bvx.1_Silent_p.D452D	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	695	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGGTCTTGCCGTCCCCGCTGC	0.592												
HBQ1	3049	broad.mit.edu	37	16	231069	231069	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:231069A>G	uc002cfz.2	+	3	542	c.391A>G	c.(391-393)AGC>GGC	p.S131G		NM_005331	NP_005322	P09105	HBAT_HUMAN	theta 1 globin	131						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CAAGTTCCTGAGCCACGTTAT	0.662												
WDR90	197335	broad.mit.edu	37	16	708580	708580	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:708580G>A	uc002cii.1	+	23	2876	c.2822G>A	c.(2821-2823)CGC>CAC	p.R941H	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.R468H|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.R115H|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	941	WD 10.									ovary(1)	1		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662												
MSLNL	401827	broad.mit.edu	37	16	830735	830735	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:830735G>A	uc002cjz.1	-	3	266	c.266C>T	c.(265-267)ACC>ATC	p.T89I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:Variant_position_missing_in_Q96KJ4_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GTGTGCACGGGTAGGTGACAG	0.587												
UNKL	64718	broad.mit.edu	37	16	1416381	1416381	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:1416381G>A	uc010brn.1	-	9	1051	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	UNKL_uc002cln.2_Missense_Mutation_p.R187C|UNKL_uc002clo.2_Missense_Mutation_p.R184C|UNKL_uc002clp.2_Missense_Mutation_p.R137C			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	635						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				TGCTTGGCGCGGAGCTGGAAG	0.711												
CRAMP1L	57585	broad.mit.edu	37	16	1709951	1709951	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:1709951C>T	uc010uvh.1	+	10	2300	c.2300C>T	c.(2299-2301)ACG>ATG	p.T767M	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	767						nucleus	DNA binding				0						CAGTCGATGACGCCCCCAGGG	0.622												
TBL3	10607	broad.mit.edu	37	16	2025090	2025090	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:2025090C>T	uc002cnu.1	+	7	728	c.626C>T	c.(625-627)ACC>ATC	p.T209I	TBL3_uc002cnv.1_Missense_Mutation_p.T95I|TBL3_uc010bsb.1_Silent_p.H23H|TBL3_uc010bsc.1_Missense_Mutation_p.T95I|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	209	WD 4.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GACGGCCACACCATGCTCAGG	0.642												
BTBD12	84464	broad.mit.edu	37	16	3640830	3640830	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3640830C>A	uc002cvp.2	-	12	3436	c.2809G>T	c.(2809-2811)GGG>TGG	p.G937W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	937	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCCCGTGCCCCTGAGTGCTGG	0.672								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
DNASE1	1773	broad.mit.edu	37	16	3706656	3706656	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3706656C>T	uc002cvr.2	+	5	2445	c.338C>T	c.(337-339)GCG>GTG	p.A113V		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	113					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CAGGTGTCTGCGGTGGACAGC	0.647								Direct_reversal_of_damage				
CREBBP	1387	broad.mit.edu	37	16	3777763	3777763	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3777763C>T	uc002cvv.2	-	31	7489	c.7285G>A	c.(7285-7287)GAC>AAC	p.D2429N	CREBBP_uc002cvw.2_Missense_Mutation_p.D2391N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2429					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCGTGGTGTCCCCGACCAGG	0.552			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
MGRN1	23295	broad.mit.edu	37	16	4723603	4723603	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4723603C>A	uc002cwz.2	+	10	1036	c.900C>A	c.(898-900)ACC>ACA	p.T300T	MGRN1_uc002cxa.2_Silent_p.T300T|MGRN1_uc010btx.2_Silent_p.T301T|MGRN1_uc010btw.2_Silent_p.T301T|MGRN1_uc002cxb.2_Silent_p.T339T|MGRN1_uc010uxo.1_Silent_p.T300T|MGRN1_uc010uxp.1_Silent_p.T300T|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	300	RING-type.				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						GCCTCTGTACCTCCTGCGCCG	0.637												
MGRN1	23295	broad.mit.edu	37	16	4730034	4730034	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4730034G>A	uc002cwz.2	+	12	1203	c.1067G>A	c.(1066-1068)TGT>TAT	p.C356Y	MGRN1_uc002cxa.2_Missense_Mutation_p.C356Y|MGRN1_uc010btx.2_Intron|MGRN1_uc010btw.2_Intron|MGRN1_uc002cxb.2_Missense_Mutation_p.C395Y|MGRN1_uc010uxo.1_Intron|MGRN1_uc010uxp.1_Intron|MGRN1_uc010uxq.1_Intron	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	356					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						TCTTGACAGTGTCCCTTTAAA	0.527												
UBN1	29855	broad.mit.edu	37	16	4908638	4908638	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4908638G>A	uc002cyb.2	+	4	745	c.406G>A	c.(406-408)GAC>AAC	p.D136N	UBN1_uc010uxw.1_Missense_Mutation_p.D136N|UBN1_uc002cyc.2_Missense_Mutation_p.D136N	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	136	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TGATGAATCCGACTCCTTCAT	0.443												
C16orf68	79091	broad.mit.edu	37	16	8722948	8722948	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:8722948G>A	uc002cyz.2	+	3	771	c.495G>A	c.(493-495)CCG>CCA	p.P165P	C16orf68_uc002cza.2_Silent_p.P109P	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	165							methyltransferase activity				0						AAGGCAGCCCGCACGATATCA	0.537												
GRIN2A	2903	broad.mit.edu	37	16	9857693	9857693	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:9857693G>A	uc002czo.3	-	13	4256	c.3708C>T	c.(3706-3708)TGC>TGT	p.C1236C	GRIN2A_uc010uym.1_Silent_p.C1236C|GRIN2A_uc010uyn.1_Silent_p.C1079C|GRIN2A_uc002czr.3_Silent_p.C1236C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1236	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCAGGCATCGCACTTGAAGG	0.587												
MYH11	4629	broad.mit.edu	37	16	15832541	15832541	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:15832541C>T	uc002ddy.2	-	24	3109	c.3002G>A	c.(3001-3003)CGA>CAA	p.R1001Q	MYH11_uc002ddv.2_Missense_Mutation_p.R1008Q|MYH11_uc002ddw.2_Missense_Mutation_p.R1001Q|MYH11_uc002ddx.2_Missense_Mutation_p.R1008Q|MYH11_uc010bvg.2_Missense_Mutation_p.R833Q	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1001	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAGGAGTTTTCGTTCCTTTTT	0.358			T	CBFB	AML							
SYT17	51760	broad.mit.edu	37	16	19191811	19191811	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:19191811C>T	uc002dfw.2	+	4	612	c.281C>T	c.(280-282)TCG>TTG	p.S94L	SYT17_uc002dfx.2_Missense_Mutation_p.S33L|SYT17_uc002dfy.2_Missense_Mutation_p.S90L|SYT17_uc002dfv.1_Missense_Mutation_p.S33L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	94						membrane|synaptic vesicle	transporter activity			ovary(1)	1						GGAAGACGCTCGTCCTCAGAC	0.582											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CP110	9738	broad.mit.edu	37	16	19548145	19548145	+	Missense_Mutation	SNP	C	C	T	rs142177955		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:19548145C>T	uc002dgl.3	+	4	1401	c.1154C>T	c.(1153-1155)GCG>GTG	p.A385V	CP110_uc002dgk.3_Missense_Mutation_p.A385V			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	385	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						ACATCATCAGCGTGTCATATA	0.368												
IQCK	124152	broad.mit.edu	37	16	19745048	19745048	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:19745048A>G	uc002dgr.2	+	4	974	c.275A>G	c.(274-276)CAT>CGT	p.H92R	IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.H92R|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Missense_Mutation_p.H4R	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	IQ motif containing K	92										skin(1)	1						ATGCTTTTTCATGGCTTCAGT	0.433												
DNAH3	55567	broad.mit.edu	37	16	20975853	20975853	+	Missense_Mutation	SNP	G	G	A	rs148895333		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:20975853G>A	uc010vbe.1	-	53	9353	c.9353C>T	c.(9352-9354)GCG>GTG	p.A3118V	DNAH3_uc010vbd.1_Missense_Mutation_p.A553V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3118	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TAACTGCAGCGCGTTTTCCAG	0.458												
DNAH3	55567	broad.mit.edu	37	16	21053360	21053360	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:21053360C>T	uc010vbe.1	-	32	4627	c.4627G>A	c.(4627-4629)GAC>AAC	p.D1543N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGAGATTGTCGGGCAGTTCA	0.403												
DNAH3	55567	broad.mit.edu	37	16	21060917	21060917	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:21060917C>T	uc010vbe.1	-	31	4434	c.4434G>A	c.(4432-4434)GCG>GCA	p.A1478A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1478	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATCAAAGCACGCCCATGCTC	0.517												
HS3ST2	9956	broad.mit.edu	37	16	22926539	22926539	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:22926539G>A	uc002dli.2	+	2	832	c.760G>A	c.(760-762)GTG>ATG	p.V254M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	254	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CGGCATGTACGTGCTGCACCT	0.632												
UBFD1	56061	broad.mit.edu	37	16	23569516	23569516	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:23569516A>G	uc002dlv.2	+	2	473	c.271A>G	c.(271-273)ATC>GTC	p.I91V	EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	91	Ubiquitin-like.										0				GBM - Glioblastoma multiforme(48;0.0331)		CTTGAAGATCATCTGGAATAA	0.637												
AQP8	343	broad.mit.edu	37	16	25238448	25238448	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:25238448C>A	uc002doc.2	+	5	744	c.662C>A	c.(661-663)GCC>GAC	p.A221D		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	221	Extracellular (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		GCGGTGGTGGCCAACCACTGG	0.612												
RNF40	9810	broad.mit.edu	37	16	30785346	30785346	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:30785346C>T	uc002dzq.2	+	20	3040	c.2917C>T	c.(2917-2919)CGG>TGG	p.R973W	RNF40_uc010caa.2_Missense_Mutation_p.R972W|RNF40_uc010cab.2_Missense_Mutation_p.R873W|RNF40_uc010vfa.1_Missense_Mutation_p.R305W|RNF40_uc002dzr.2_Missense_Mutation_p.R973W|RNF40_uc010vfb.1_Missense_Mutation_p.R665W	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	973	RING-type.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			CGAGTGCGTGCGGGGCCGCTA	0.597												
SETD1A	9739	broad.mit.edu	37	16	30991437	30991437	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:30991437C>T	uc002ead.1	+	14	5016	c.4330C>T	c.(4330-4332)CGG>TGG	p.R1444W		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1444	Interaction with CFP1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						GAGTTACCTGCGGCTTACGTA	0.522												
PYDC1	260434	broad.mit.edu	37	16	31228238	31228238	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:31228238G>A	uc002ebo.2	-	1	161	c.112C>T	c.(112-114)CGC>TGC	p.R38C	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	38	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0						CGCGGGATGCGCTCAAAGCCC	0.647												
ITGAX	3687	broad.mit.edu	37	16	31383830	31383830	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:31383830C>T	uc002ebu.1	+	18	2359	c.2292C>T	c.(2290-2292)TCC>TCT	p.S764S	ITGAX_uc002ebt.2_Silent_p.S764S	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	764	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCACGGCCTCCGTGAGTCCTG	0.627												
ABCC12	94160	broad.mit.edu	37	16	48138137	48138137	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:48138137A>G	uc002efc.1	-	20	3162	c.2816T>C	c.(2815-2817)TTT>TCT	p.F939S	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	939	ABC transmembrane type-1 2.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CACGAGAATAAACACCACCAT	0.493												
SALL1	6299	broad.mit.edu	37	16	51174228	51174228	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:51174228C>T	uc010vgs.1	-	2	1936	c.1905G>A	c.(1903-1905)CCG>CCA	p.P635P	SALL1_uc010vgr.1_Silent_p.P538P|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	635					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTCGCCGTCGGGACTGAGT	0.637												
CHD9	80205	broad.mit.edu	37	16	53341746	53341746	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:53341746G>A	uc002ehb.2	+	32	7098	c.6934G>A	c.(6934-6936)GAT>AAT	p.D2312N	CHD9_uc002egy.2_Missense_Mutation_p.D2312N|CHD9_uc002ehc.2_Missense_Mutation_p.D2313N|CHD9_uc002ehf.2_Missense_Mutation_p.D1426N|CHD9_uc010cbw.2_Missense_Mutation_p.D378N|CHD9_uc002ehg.1_Missense_Mutation_p.D319N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2312					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				AGAATACAGCGATCCCAGTGT	0.468												
GPR56	9289	broad.mit.edu	37	16	57691305	57691305	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:57691305C>T	uc002emb.2	+	11	1480	c.1188C>T	c.(1186-1188)GAC>GAT	p.D396D	GPR56_uc002elz.1_Silent_p.D226D|GPR56_uc002ema.1_Silent_p.D221D|GPR56_uc002emc.2_Silent_p.D396D|GPR56_uc002emf.2_Silent_p.D396D|GPR56_uc010vhs.1_Silent_p.D396D|GPR56_uc002emd.2_Silent_p.D396D|GPR56_uc002eme.2_Silent_p.D396D|GPR56_uc010vht.1_Silent_p.D401D|GPR56_uc002emg.3_Silent_p.D396D|GPR56_uc010vhu.1_Silent_p.D221D	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	396	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						TGGAGGTGGACGCCGTGCACA	0.637												
ZNF319	57567	broad.mit.edu	37	16	58031995	58031995	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:58031995C>G	uc002emx.1	-	2	798	c.175G>C	c.(175-177)GGC>CGC	p.G59R		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	59	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCTGCAGGCCGGGGTCTGGC	0.697												
CDH11	1009	broad.mit.edu	37	16	65016141	65016141	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:65016141C>T	uc002eoi.2	-	8	1497	c.1063G>A	c.(1063-1065)GAC>AAC	p.D355N	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.D355N|CDH11_uc010vin.1_Missense_Mutation_p.D229N|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	355	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
KIAA0895L	653319	broad.mit.edu	37	16	67213378	67213378	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:67213378C>T	uc002ert.2	-	4	1577	c.802G>A	c.(802-804)GGA>AGA	p.G268R	KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Missense_Mutation_p.G268R|EXOC3L_uc002erv.1_RNA	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	268											0						TGGCGGGCTCCGGTCAGGTTG	0.622												
GFOD2	81577	broad.mit.edu	37	16	67709886	67709886	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:67709886C>T	uc002eub.2	-	3	625	c.330G>A	c.(328-330)TCG>TCA	p.S110S	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.S5S	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	110						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GGTAGTAGCGCGAGGCTGTCA	0.542												
DPEP2	64174	broad.mit.edu	37	16	68025854	68025854	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:68025854G>A	uc010cey.2	-	4	713	c.549C>T	c.(547-549)TGC>TGT	p.C183C	DPEP2_uc002evd.3_Silent_p.C183C|DPEP2_uc002eve.2_Silent_p.C183C|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_3'UTR	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	183					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACCGATGAGGCAGGCCAATT	0.547												
PLA2G15	23659	broad.mit.edu	37	16	68293136	68293136	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:68293136A>G	uc002evr.2	+	6	898	c.815A>G	c.(814-816)TAC>TGC	p.Y272C	PLA2G15_uc010vld.1_Silent_p.L230L|PLA2G15_uc010vle.1_Missense_Mutation_p.Y178C|PLA2G15_uc010vlf.1_Missense_Mutation_p.Y72C|PLA2G15_uc002evs.2_Missense_Mutation_p.Y93C	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	272					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						CTGCTGCCCTACAACTACACA	0.572												
CDH3	1001	broad.mit.edu	37	16	68732297	68732297	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:68732297C>T	uc002ewf.2	+	16	3616	c.2484C>T	c.(2482-2484)GAC>GAT	p.D828D	CDH3_uc010vli.1_Silent_p.D773D	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	828	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GCGGGGAGGACGACTAGGCGG	0.607												
CIRH1A	84916	broad.mit.edu	37	16	69184788	69184788	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:69184788G>A	uc002ews.3	+	8	1079	c.983G>A	c.(982-984)CGA>CAA	p.R328Q	CIRH1A_uc002ewr.2_Missense_Mutation_p.R328Q|CIRH1A_uc002ewt.3_Missense_Mutation_p.R245Q|CIRH1A_uc010cfi.2_Missense_Mutation_p.R245Q|CIRH1A_uc010cfj.1_Missense_Mutation_p.R147Q	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	328	WD 8.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCGCTCTCCGAAAAATCACC	0.537												
WWP2	11060	broad.mit.edu	37	16	69875982	69875982	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:69875982G>A	uc002exu.1	+	7	623	c.534G>A	c.(532-534)CGG>CGA	p.R178R	WWP2_uc002ext.2_Silent_p.R178R|WWP2_uc002exv.1_Silent_p.R178R|WWP2_uc010vlm.1_Silent_p.R62R	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	178					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CAGAGAACCGGCACCAGCCCC	0.502												
PDPR	55066	broad.mit.edu	37	16	70176286	70176286	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:70176286G>A	uc002eyf.1	+	12	2422	c.1465G>A	c.(1465-1467)GAC>AAC	p.D489N	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.D389N|PDPR_uc002eyg.1_Missense_Mutation_p.D217N	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	489					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGTTCCCCCCGACAAGGGTAA	0.428												
VAC14	55697	broad.mit.edu	37	16	70806020	70806020	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:70806020A>G	uc002ezm.2	-	10	1410	c.1152T>C	c.(1150-1152)ACT>ACC	p.T384T	VAC14_uc010cfw.2_Silent_p.T150T|VAC14_uc002ezn.2_Intron|uc002ezp.1_3'UTR|uc002ezq.2_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	384					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				ACCTGGCTGCAGTGAAGACAC	0.542												
ZFHX3	463	broad.mit.edu	37	16	72845607	72845607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:72845607G>A	uc002fck.2	-	7	4406	c.3733C>T	c.(3733-3735)CAG>TAG	p.Q1245*	ZFHX3_uc002fcl.2_Nonsense_Mutation_p.Q331*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1245	C2H2-type 10; atypical.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ACCGAGTGCTGCGTCATGGCA	0.587												
ZFHX3	463	broad.mit.edu	37	16	72993115	72993115	+	Silent	SNP	G	G	A	rs35466869	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:72993115G>A	uc002fck.2	-	2	1603	c.930C>T	c.(928-930)AGC>AGT	p.S310S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	310					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCTCGTCTTCGCTCAGGGTCA	0.483												
MLYCD	23417	broad.mit.edu	37	16	83945904	83945904	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:83945904A>G	uc002fgz.2	+	4	900	c.880A>G	c.(880-882)ACC>GCC	p.T294A		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	294					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						CATCAGCTTGACCCAGCAGGG	0.517												
TAF1C	9013	broad.mit.edu	37	16	84216854	84216854	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:84216854G>A	uc002fhn.2	-	5	632	c.404C>T	c.(403-405)GCG>GTG	p.A135V	TAF1C_uc002fhm.2_Missense_Mutation_p.A68V|TAF1C_uc010vnx.1_Missense_Mutation_p.A135V|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.A135V	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	135					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						ACTCACCCCCGCTCCCTCCAG	0.607												
ADAD2	161931	broad.mit.edu	37	16	84229828	84229828	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:84229828G>A	uc002fhr.2	+	8	1492	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	ADAD2_uc002fhq.2_Missense_Mutation_p.V542I|uc002fhs.1_Intron	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	460	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						ACCTCCCTACGTCCGGACCGC	0.692												
ZDHHC7	55625	broad.mit.edu	37	16	85015579	85015579	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:85015579C>T	uc002fiq.2	-	4	690	c.337G>A	c.(337-339)GCT>ACT	p.A113T	ZDHHC7_uc010voi.1_Missense_Mutation_p.A150T|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	113						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						TCTTTCGTAGCGTTTCCTTTG	0.423												
CDH15	1013	broad.mit.edu	37	16	89251636	89251636	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:89251636C>T	uc002fmt.2	+	5	635	c.558C>T	c.(556-558)AAC>AAT	p.N186N	CDH15_uc010cij.1_Silent_p.N186N	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	186	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGACGGACAACGCAGCGCTGC	0.657												
MYO1C	4641	broad.mit.edu	37	17	1386275	1386275	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:1386275G>A	uc002fsp.2	-	4	646	c.426C>T	c.(424-426)AGC>AGT	p.S142S	MYO1C_uc002fsn.2_Silent_p.S123S|MYO1C_uc002fso.2_Silent_p.S107S|MYO1C_uc010vqj.1_Silent_p.S107S|MYO1C_uc010vqk.1_Silent_p.S118S	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	142	Myosin head-like.|ATP (Potential).				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCTGCCCCGCTCTCCCCAG	0.687												
PRPF8	10594	broad.mit.edu	37	17	1579927	1579927	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:1579927C>T	uc002fte.2	-	16	2374	c.2260G>A	c.(2260-2262)GCC>ACC	p.A754T		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	754						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTAGTGGGCAGTGTTGGTC	0.542												
SGSM2	9905	broad.mit.edu	37	17	2267458	2267458	+	Missense_Mutation	SNP	G	G	T	rs61733094		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:2267458G>T	uc002fun.3	+	8	1088	c.913G>T	c.(913-915)GAC>TAC	p.D305Y	SGSM2_uc002fum.3_Missense_Mutation_p.D305Y|SGSM2_uc010vqw.1_Missense_Mutation_p.D305Y|SGSM2_uc002fuo.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	305						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GACTCTGGGGGACTCCGAGCT	0.612												
MYBBP1A	10514	broad.mit.edu	37	17	4451584	4451584	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:4451584C>T	uc002fyb.3	-	12	1640	c.1578G>A	c.(1576-1578)ACG>ACA	p.T526T	MYBBP1A_uc002fxz.3_Silent_p.T526T	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	526	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GCTTGAACTGCGTGCTGAGGG	0.637												
NLRP1	22861	broad.mit.edu	37	17	5463094	5463094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:5463094G>A	uc002gci.2	-	4	1477	c.922C>T	c.(922-924)CGA>TGA	p.R308*	NLRP1_uc002gcg.1_Nonsense_Mutation_p.R308*|NLRP1_uc002gck.2_Nonsense_Mutation_p.R308*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.R308*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.R308*|NLRP1_uc002gch.3_Nonsense_Mutation_p.R308*|NLRP1_uc010clh.2_Nonsense_Mutation_p.R308*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	308					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AAATGTCCTCGATTCTCCTCC	0.488												
PITPNM3	83394	broad.mit.edu	37	17	6367630	6367630	+	Missense_Mutation	SNP	G	G	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:6367630G>C	uc002gdd.3	-	16	2167	c.2016C>G	c.(2014-2016)ATC>ATG	p.I672M	PITPNM3_uc010cln.2_Missense_Mutation_p.I636M|PITPNM3_uc010clm.2_Missense_Mutation_p.I155M|PITPNM3_uc002gdc.3_Missense_Mutation_p.I263M	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	672					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCATTACTAGGATGTCCACCT	0.637												
KIAA0753	9851	broad.mit.edu	37	17	6511778	6511778	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:6511778T>C	uc002gde.3	-	10	2078	c.1719A>G	c.(1717-1719)GCA>GCG	p.A573A	KIAA0753_uc010vtd.1_Silent_p.A29A|KIAA0753_uc010clo.2_Silent_p.A274A|KIAA0753_uc010vte.1_Silent_p.A274A	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	573						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CCTTTAGCCATGCAGCACTGA	0.463												
BCL6B	255877	broad.mit.edu	37	17	6927843	6927843	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:6927843A>G	uc002geg.2	+	4	582	c.525A>G	c.(523-525)CGA>CGG	p.R175R	BCL6B_uc010clt.1_Silent_p.R175R	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	175	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						CTGAATCTCGAAGCTGCAGTC	0.617												
ASGR1	432	broad.mit.edu	37	17	7077301	7077301	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7077301G>A	uc002ges.3	-	8	1090	c.680C>T	c.(679-681)ACG>ATG	p.T227M	ASGR1_uc010clx.1_Missense_Mutation_p.T126M	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	227	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						CTCGTAGTCCGTCCCGTCCAC	0.657												
ZBTB4	57659	broad.mit.edu	37	17	7369702	7369702	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7369702A>G	uc002ghc.3	-	3	669	c.419T>C	c.(418-420)CTC>CCC	p.L140P	ZBTB4_uc002ghd.3_Missense_Mutation_p.L140P	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	140	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GATGAAGTTGAGGACATCAGA	0.602												
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CHD3	1107	broad.mit.edu	37	17	7805989	7805989	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7805989G>A	uc002gje.2	+	21	3464	c.3314G>A	c.(3313-3315)CGC>CAC	p.R1105H	CHD3_uc002gjd.2_Missense_Mutation_p.R1164H|CHD3_uc002gjf.2_Missense_Mutation_p.R1105H|CHD3_uc002gjh.2_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1105	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				AAGTATGAGCGCATCGATGGT	0.507												
ALOX12B	242	broad.mit.edu	37	17	7978994	7978994	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7978994C>T	uc002gjy.1	-	12	1834	c.1573G>A	c.(1573-1575)GCA>ACA	p.A525T		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	525	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						TCCACGGCTGCGTCACTCGGG	0.577										Multiple Myeloma(8;0.094)		
SLC25A35	399512	broad.mit.edu	37	17	8192959	8192959	+	Missense_Mutation	SNP	G	G	T	rs145334128		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:8192959G>T	uc002gku.1	-	6	908	c.863C>A	c.(862-864)CCG>CAG	p.P288Q	SLC25A35_uc002gkt.2_Missense_Mutation_p.P288Q|RANGRF_uc002gkv.2_Intron|RANGRF_uc002gkw.2_Intron|RANGRF_uc002gky.2_3'UTR|RANGRF_uc002gkx.2_3'UTR|SLC25A35_uc002gkz.1_RNA	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	Error:Variant_position_missing_in_Q3KQZ1_after_alignment					transport	integral to membrane|mitochondrial inner membrane					0						CAGGAGAATCGGGCTGGGAGG	0.587												
GAS7	8522	broad.mit.edu	37	17	9837547	9837547	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:9837547G>A	uc002gmg.1	-	9	982	c.821C>T	c.(820-822)GCG>GTG	p.A274V	GAS7_uc010vvc.1_Missense_Mutation_p.A88V|GAS7_uc002gmh.1_Missense_Mutation_p.A134V|GAS7_uc010vvd.1_Missense_Mutation_p.A226V|GAS7_uc002gmi.2_Missense_Mutation_p.A210V|GAS7_uc002gmj.1_Missense_Mutation_p.A214V|GAS7_uc010coh.1_Missense_Mutation_p.A214V	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	274	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						CTGGGCCCACGCCTCTCCCAA	0.597			T	MLL	AML*							
MYH13	8735	broad.mit.edu	37	17	10209901	10209901	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:10209901C>T	uc002gmk.1	-	37	5431	c.5341G>A	c.(5341-5343)GCC>ACC	p.A1781T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1781	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCCAGGTGGGCGCTGGTGTCC	0.582												
MYH3	4621	broad.mit.edu	37	17	10558338	10558338	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:10558338G>T	uc002gmq.1	-	2	121	c.44C>A	c.(43-45)CCT>CAT	p.P15H		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	15	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCGGAGGAAAGGAGCAGCTAT	0.542												
TEKT3	64518	broad.mit.edu	37	17	15217458	15217458	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:15217458C>T	uc002gon.2	-	6	1011	c.824G>A	c.(823-825)CGC>CAC	p.R275H		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	275					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGATGTGTTGCGCAGGTGGTG	0.547												
NCOR1	9611	broad.mit.edu	37	17	16001755	16001755	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:16001755C>T	uc002gpo.2	-	21	2986	c.2746G>A	c.(2746-2748)GTC>ATC	p.V916I	NCOR1_uc002gpn.2_Missense_Mutation_p.V932I|NCOR1_uc002gpp.1_Missense_Mutation_p.V823I|NCOR1_uc002gpr.2_Missense_Mutation_p.V823I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	916					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGATGAGACGAGTATAGAT	0.378												
RAI1	10743	broad.mit.edu	37	17	17698232	17698232	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:17698232C>T	uc002grm.2	+	3	2439	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V	RAI1_uc002grn.1_Missense_Mutation_p.A657V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	657						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCCAAGAGTGCGTGGCCCCGG	0.647												
SREBF1	6720	broad.mit.edu	37	17	17716744	17716744	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:17716744G>A	uc002gru.1	-	18	3346	c.3152C>T	c.(3151-3153)ACA>ATA	p.T1051I	SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.T670I|SREBF1_uc002grq.1_Missense_Mutation_p.T570I|SREBF1_uc002grr.1_Missense_Mutation_p.T797I|SREBF1_uc002grs.1_Missense_Mutation_p.T1027I|SREBF1_uc002grt.1_Missense_Mutation_p.T1081I	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	1051	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GTGTGTCCGTGTGGGGCTGGC	0.692												
SREBF1	6720	broad.mit.edu	37	17	17722433	17722433	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:17722433C>T	uc002gru.1	-	5	1156	c.962G>A	c.(961-963)CGT>CAT	p.R321H	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_Translation_Start_Site|SREBF1_uc002grr.1_Missense_Mutation_p.R67H|SREBF1_uc002grs.1_Missense_Mutation_p.R297H|SREBF1_uc002grt.1_Missense_Mutation_p.R351H|SREBF1_uc010cpp.1_Missense_Mutation_p.R297H|SREBF1_uc010cpq.1_Missense_Mutation_p.R321H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	321	Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CTTCTCTCCACGGCTCTGGGC	0.592												
DRG2	1819	broad.mit.edu	37	17	18009790	18009790	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:18009790C>T	uc002gsh.1	+	12	1053	c.998C>T	c.(997-999)GCC>GTC	p.A333V	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Intron|MYO15A_uc010vxh.1_5'Flank	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	333					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					TTCAAGTACGCCCTGGTGTGG	0.597												
LLGL1	3996	broad.mit.edu	37	17	18141431	18141431	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:18141431G>A	uc002gsp.2	+	15	2016	c.1955G>A	c.(1954-1956)CGG>CAG	p.R652Q		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	652	WD 10.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CCGCTCTCCCGGGTGAAGTCT	0.607												
CYTSB	92521	broad.mit.edu	37	17	20135630	20135631	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:20135630_20135631GA>CT	uc002gwq.2	+	7	2408_2409	c.2263_2264GA>CT	c.(2263-2265)GAG>CTG	p.E755L	CYTSB_uc010cqx.2_Missense_Mutation_p.E755L|CYTSB_uc002gwr.2_Missense_Mutation_p.E755L|CYTSB_uc002gws.2_Missense_Mutation_p.E755L|CYTSB_uc002gwv.2_Missense_Mutation_p.E674L|CYTSB_uc010vzf.1_Missense_Mutation_p.E95L|CYTSB_uc002gww.2_Missense_Mutation_p.E531L|CYTSB_uc002gwt.2_Missense_Mutation_p.E674L|CYTSB_uc002gwu.2_Missense_Mutation_p.E674L	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	755	Potential.					nucleus					0						GAAACTGCTGGAGGAGGAGGAG	0.644												
LGALS9B	284194	broad.mit.edu	37	17	20361569	20361569	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:20361569C>A	uc002gxa.1	-	3	325	c.260G>T	c.(259-261)AGG>ATG	p.R87M	LGALS9B_uc002gwz.1_Missense_Mutation_p.R87M|LGALS9B_uc010vzh.1_Translation_Start_Site	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	87	Beta-galactoside binding 1 (By similarity).|Galectin 1.						sugar binding			skin(1)	1						GTGCATCTTCCTCTCCTCGGG	0.552												
KCNJ12	3768	broad.mit.edu	37	17	21319255	21319255	+	Missense_Mutation	SNP	G	G	A	rs147680561		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:21319255G>A	uc002gyv.1	+	3	1306	c.601G>A	c.(601-603)GTG>ATG	p.V201M		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	201	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CCACAACGCCGTGGTGGCCCT	0.612										Prostate(3;0.18)		
ALDOC	230	broad.mit.edu	37	17	26902486	26902486	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:26902486C>T	uc002hbp.2	-	2	210	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	ALDOC_uc010cro.2_Missense_Mutation_p.R22Q	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	22					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GGCTACAATCCGCAGGGCAAT	0.557											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TLCD1	116238	broad.mit.edu	37	17	27051593	27051593	+	Missense_Mutation	SNP	G	G	T	rs148558266		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:27051593G>T	uc002hco.2	-	4	794	c.679C>A	c.(679-681)CGC>AGC	p.R227S	TLCD1_uc010waw.1_Missense_Mutation_p.R180S	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	227	TLC.					integral to membrane					0	Lung NSC(42;0.00431)					AAGTCAGAGCGGAGGAGGCGG	0.527												
TLCD1	116238	broad.mit.edu	37	17	27051685	27051685	+	Missense_Mutation	SNP	C	C	T	rs141253957		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:27051685C>T	uc002hco.2	-	4	702	c.587G>A	c.(586-588)CGT>CAT	p.R196H	TLCD1_uc010waw.1_Missense_Mutation_p.R149H	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	196	TLC.					integral to membrane					0	Lung NSC(42;0.00431)					GTTCACATAACGCAAGAAGAA	0.532												
SLC6A4	6532	broad.mit.edu	37	17	28538348	28538348	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:28538348C>T	uc002hey.3	-	10	1843	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	433	Helical; Name=8; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAAGCCCAGCGTGATTAACA	0.527												
MYO1D	4642	broad.mit.edu	37	17	31048134	31048134	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:31048134C>T	uc002hho.1	-	15	1832	c.1820G>A	c.(1819-1821)CGG>CAG	p.R607Q	MYO1D_uc002hhp.1_Missense_Mutation_p.R607Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	607	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TACTTGGTGCCGGCAGCGTTC	0.428												
SLFN5	162394	broad.mit.edu	37	17	33588113	33588113	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:33588113C>T	uc002hjf.3	+	3	1253	c.1136C>T	c.(1135-1137)CCA>CTA	p.P379L	SLFN5_uc010wcg.1_Missense_Mutation_p.P379L	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	379					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CGCTACTTTCCAGGTAATTGG	0.338												
ACACA	31	broad.mit.edu	37	17	35615203	35615203	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:35615203A>C	uc002hnm.2	-	13	1673	c.1482T>G	c.(1480-1482)GAT>GAG	p.D494E	ACACA_uc002hnk.2_Missense_Mutation_p.D416E|ACACA_uc002hnl.2_Missense_Mutation_p.D436E|ACACA_uc002hnn.2_Missense_Mutation_p.D494E|ACACA_uc002hno.2_Missense_Mutation_p.D531E|ACACA_uc010cuz.2_Missense_Mutation_p.D494E	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	494	Biotin carboxylation.			D -> N (in Ref. 1; AAC50139).	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CGTGTGCAGAATCTTCAAAAT	0.443												
PNMT	5409	broad.mit.edu	37	17	37826226	37826226	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:37826226C>T	uc002hsi.1	+	3	655	c.433C>T	c.(433-435)CGC>TGC	p.R145C		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	145					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGATAAGGAGCGCCAGCTGCG	0.662												
ERBB2	2064	broad.mit.edu	37	17	37883212	37883212	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:37883212G>A	uc002hso.2	+	25	3353	c.3115G>A	c.(3115-3117)GCT>ACT	p.A1039T	ERBB2_uc002hsm.2_Missense_Mutation_p.A1009T|ERBB2_uc010cwa.2_Missense_Mutation_p.A1024T|ERBB2_uc002hsp.2_Missense_Mutation_p.A842T|ERBB2_uc010cwb.2_Missense_Mutation_p.A1039T|ERBB2_uc010wek.1_Missense_Mutation_p.A763T	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1039	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGCCCCGGGCGCTGGGGGCAT	0.647		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
MED24	9862	broad.mit.edu	37	17	38192383	38192383	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38192383T>C	uc002htt.2	-	4	551	c.238A>G	c.(238-240)ACA>GCA	p.T80A	MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.T105A|MED24_uc002htu.2_Intron|MED24_uc010cwn.2_Intron|MED24_uc010weu.1_Silent_p.S14S|MED24_uc010wev.1_Missense_Mutation_p.T30A|MED24_uc010wew.1_Missense_Mutation_p.T9A|MED24_uc010wex.1_Silent_p.S14S|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.T30A|MED24_uc010wfb.1_Intron|MED24_uc010wfc.1_Intron	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	80					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CTGATGGCTGTGAGGACAGAA	0.498												
CASC3	22794	broad.mit.edu	37	17	38323817	38323817	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38323817G>A	uc010cwt.1	+	9	1898	c.1603G>A	c.(1603-1605)GCC>ACC	p.A535T	CASC3_uc002hue.2_Missense_Mutation_p.A535T	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	535	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGAGCCCCCCGCCCCTCCAGT	0.498												
KRT39	390792	broad.mit.edu	37	17	39122766	39122766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39122766G>A	uc002hvo.1	-	1	379	c.343C>T	c.(343-345)CGA>TGA	p.R115*	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	115	Coil 1A.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				TCTAGCATTCGCACCTTTTGC	0.448												
KRTAP9-2	83899	broad.mit.edu	37	17	39383096	39383096	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39383096A>C	uc002hwf.2	+	1	197	c.190A>C	c.(190-192)ACC>CCC	p.T64P		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9.2	64	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|7.					keratin filament	protein binding			upper_aerodigestive_tract(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCTGTAGGACCACCTGCTG	0.657												
KRT34	3885	broad.mit.edu	37	17	39535917	39535917	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39535917C>T	uc002hwm.2	-	4	793	c.781G>A	c.(781-783)GTG>ATG	p.V261M		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	261	Rod.|Linker 12.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TTCAGGTCCACAGTGGGGGCA	0.577												
KRT36	8689	broad.mit.edu	37	17	39645760	39645760	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39645760C>T	uc002hwt.2	-	1	357	c.357G>A	c.(355-357)GCG>GCA	p.A119A		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	119	Rod.|Coil 1A.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TCTCCAGCTCCGCGTTCTCCC	0.567												
ACBD4	79777	broad.mit.edu	37	17	43216487	43216487	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:43216487G>T	uc002iid.2	+	9	1083	c.739G>T	c.(739-741)GGG>TGG	p.G247W	ACBD4_uc010wjj.1_Missense_Mutation_p.G263W|ACBD4_uc002iie.2_Missense_Mutation_p.G263W|ACBD4_uc002iif.2_Missense_Mutation_p.R250M|ACBD4_uc002iic.2_Missense_Mutation_p.R250M|ACBD4_uc010dae.2_Missense_Mutation_p.G185W	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	247							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						GTGCAGGCGAGGGTGCAGAGC	0.652												
TBX21	30009	broad.mit.edu	37	17	45822254	45822254	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:45822254C>T	uc002ilv.1	+	6	1341	c.1130C>T	c.(1129-1131)GCG>GTG	p.A377V		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	377					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CCTGGCCAGGCGAAGGATGTG	0.597												
HOXB13	10481	broad.mit.edu	37	17	46804268	46804268	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:46804268G>A	uc002ioa.2	-	2	895	c.739C>T	c.(739-741)CGC>TGC	p.R247C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	247	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGATCTTGCGCCTCTTGTCC	0.577												
HOXB13	10481	broad.mit.edu	37	17	46804341	46804341	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:46804341C>T	uc002ioa.2	-	2	822	c.666G>A	c.(664-666)CCG>CCA	p.P222P	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	222	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTTGCTGTACGGAATGCGTT	0.627												
HOXB13	10481	broad.mit.edu	37	17	46804379	46804379	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:46804379C>T	uc002ioa.2	-	2	784	c.628G>A	c.(628-630)GCC>ACC	p.A210T	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	210					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGGCGCAGGCGTCAGGAGGG	0.622												
DLX3	1747	broad.mit.edu	37	17	48072046	48072046	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:48072046T>C	uc002ipy.2	-	1	543	c.317A>G	c.(316-318)CAG>CGG	p.Q106R		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACCTGGGTCCTGGGCTGGCAG	0.622												
CACNA1G	8913	broad.mit.edu	37	17	48703700	48703700	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:48703700G>A	uc002irk.1	+	38	7094	c.6722G>A	c.(6721-6723)CGG>CAG	p.R2241Q	CACNA1G_uc002irj.1_Missense_Mutation_p.R2035Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R2125Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R2162Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R2107Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R2114Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R2196Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R2218Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R2148Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R2185Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R2130Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R2137Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R2170Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R2207Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1982Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1971Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R2054Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R2027Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R2068Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R2143Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R2036Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R2064Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R2091Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R2009Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R2016Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R2004Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2241	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCATCCCCACGGGACCTGAAG	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF2B	84643	broad.mit.edu	37	17	51901032	51901032	+	Missense_Mutation	SNP	G	G	A	rs140988115		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:51901032G>A	uc002iua.2	+	1	794	c.638G>A	c.(637-639)CGC>CAC	p.R213H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	213	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CAAGAACATCGCATCTGCGTC	0.542												
TUBD1	51174	broad.mit.edu	37	17	57937750	57937750	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:57937750T>C	uc002ixw.1	-	9	1573	c.1295A>G	c.(1294-1296)GAA>GGA	p.E432G	TUBD1_uc010ddf.1_Missense_Mutation_p.E330G|TUBD1_uc010ddg.1_Missense_Mutation_p.E397G|TUBD1_uc010ddh.1_Missense_Mutation_p.E258G|TUBD1_uc010wok.1_Missense_Mutation_p.E375G|TUBD1_uc002ixx.1_Missense_Mutation_p.E377G|TUBD1_uc010wol.1_Missense_Mutation_p.E216G|TUBD1_uc010ddi.1_Missense_Mutation_p.E178G	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	432					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GTCCTCTTCTTCGATTCCAAA	0.338												
ERN1	2081	broad.mit.edu	37	17	62144207	62144207	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:62144207G>A	uc002jdz.2	-	8	779	c.666C>T	c.(664-666)TAC>TAT	p.Y222Y		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	222	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CAGGGGAGGCGTAGTTTTGGA	0.537												
TEX2	55852	broad.mit.edu	37	17	62272398	62272398	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:62272398G>A	uc002jec.2	-	3	1875	c.1702C>T	c.(1702-1704)CAT>TAT	p.H568Y	TEX2_uc002jed.2_Missense_Mutation_p.H568Y|TEX2_uc002jee.2_Missense_Mutation_p.H568Y	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	568					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGACTGAATGTGTCAAAGTC	0.403												
AXIN2	8313	broad.mit.edu	37	17	63533495	63533495	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:63533495C>T	uc002jfi.2	-	6	1948	c.1659G>A	c.(1657-1659)TCG>TCA	p.S553S	AXIN2_uc002jfh.2_Silent_p.S553S	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	553					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						TTTTGCATTTCGAGTAGCAGT	0.627									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
CACNG5	27091	broad.mit.edu	37	17	64880774	64880774	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:64880774C>T	uc010wqi.1	+	5	803	c.566C>T	c.(565-567)ACG>ATG	p.T189M	CACNG5_uc002jfr.2_Missense_Mutation_p.T189M|CACNG5_uc010wqj.1_Missense_Mutation_p.T189M	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	189	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTCCTTTTAACGGAGGTAAAG	0.552												
ABCA9	10350	broad.mit.edu	37	17	66982324	66982324	+	Missense_Mutation	SNP	C	C	T	rs142295838		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:66982324C>T	uc002jhu.2	-	32	4332	c.4189G>A	c.(4189-4191)GCA>ACA	p.A1397T	ABCA9_uc010dez.2_Missense_Mutation_p.A1359T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1397	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					GCGATCATTGCGTCCCCTTTC	0.567												
SLC9A3R1	9368	broad.mit.edu	37	17	72764648	72764648	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72764648G>A	uc002jlo.2	+	6	1153	c.930G>A	c.(928-930)GCG>GCA	p.A310A	SLC9A3R1_uc002jlp.2_Silent_p.A154A	NM_004252	NP_004243	O14745	NHRF1_HUMAN	sodium/hydrogen exchanger regulatory factor 1	310					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association				0						ACTCCACAGCGCCCTCGTCTA	0.592												
TMEM104	54868	broad.mit.edu	37	17	72787133	72787133	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72787133C>T	uc002jls.3	+	6	547	c.385C>T	c.(385-387)CGG>TGG	p.R129W	TMEM104_uc010wrf.1_Missense_Mutation_p.R129W|TMEM104_uc010wrg.1_Missense_Mutation_p.R142W|TMEM104_uc010dfx.2_Missense_Mutation_p.R129W	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	129	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)					AATCACAGACCGGGTGGAAAT	0.527												
OTOP2	92736	broad.mit.edu	37	17	72926469	72926469	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72926469A>G	uc010wrp.1	+	7	828	c.739A>G	c.(739-741)AAC>GAC	p.N247D		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	247	Helical; (Potential).					integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					ATATCCCTTCAACATCGAGTA	0.572												
C17orf28	283987	broad.mit.edu	37	17	72956336	72956336	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72956336G>A	uc002jmj.3	-	7	885	c.736C>T	c.(736-738)CTG>TTG	p.L246L	C17orf28_uc010wrs.1_Silent_p.L45L|C17orf28_uc002jmk.2_Silent_p.L245L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	246						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGAGGGGCAGGGCATGTCTG	0.632												
KCTD2	23510	broad.mit.edu	37	17	73059134	73059134	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:73059134C>T	uc002jmp.2	+	6	851	c.784C>T	c.(784-786)CGG>TGG	p.R262W	KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	262						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					GAGAGGATCGCGGATGTAAAC	0.552												
GGA3	23163	broad.mit.edu	37	17	73238457	73238457	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:73238457C>T	uc002jni.1	-	8	716	c.707G>A	c.(706-708)AGC>AAC	p.S236N	GGA3_uc002jnj.1_Missense_Mutation_p.S203N|GGA3_uc010wrw.1_Missense_Mutation_p.S114N|GGA3_uc002jnk.1_Missense_Mutation_p.S164N|GGA3_uc010wrx.1_Missense_Mutation_p.S114N|GGA3_uc010wry.1_Missense_Mutation_p.S164N|GGA3_uc010wrz.1_3'UTR	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	236	GAT.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GTCCTCCTGGCTGTAATGAAG	0.587												
UNK	85451	broad.mit.edu	37	17	73808347	73808347	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:73808347C>T	uc002jpm.2	+	4	697	c.697C>T	c.(697-699)CGC>TGC	p.R233C		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	157							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCATGACCTCCGCTCCCCTGT	0.602												
EVPL	2125	broad.mit.edu	37	17	74004016	74004016	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74004016C>T	uc002jqi.2	-	22	5498	c.5270G>A	c.(5269-5271)CGC>CAC	p.R1757H	EVPL_uc010wss.1_Missense_Mutation_p.R1779H|EVPL_uc010wst.1_Missense_Mutation_p.R1227H	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1757	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTTAGAGATGCGCCGGCAGCG	0.637												
EVPL	2125	broad.mit.edu	37	17	74004807	74004807	+	Silent	SNP	G	G	A	rs148808819		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74004807G>A	uc002jqi.2	-	22	4707	c.4479C>T	c.(4477-4479)ACC>ACT	p.T1493T	EVPL_uc010wss.1_Silent_p.T1515T|EVPL_uc010wst.1_Silent_p.T963T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1493	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GATTCAGCTCGGTTACCTGGG	0.572												
EVPL	2125	broad.mit.edu	37	17	74005247	74005247	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74005247C>T	uc002jqi.2	-	22	4267	c.4039G>A	c.(4039-4041)GCG>ACG	p.A1347T	EVPL_uc010wss.1_Missense_Mutation_p.A1369T|EVPL_uc010wst.1_Missense_Mutation_p.A817T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1347	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GCGTCCTCCGCGGCCCGCCTC	0.677												
DNAH17	8632	broad.mit.edu	37	17	76446422	76446422	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:76446422G>A	uc010dhp.1	-	13	2176	c.1954C>T	c.(1954-1956)CGC>TGC	p.R652C	DNAH17_uc002jvq.2_5'Flank|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGCCGGGCGGTAGTTCTCT	0.517												
DNAH17	8632	broad.mit.edu	37	17	76456287	76456287	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:76456287G>A	uc010dhp.1	-	4	614	c.392C>T	c.(391-393)CCG>CTG	p.P131L	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCAGGGCCGGTTCTGCTTT	0.572												
RNF213	57674	broad.mit.edu	37	17	78363971	78363971	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:78363971G>A	uc002jyh.1	+	42	9887	c.9664G>A	c.(9664-9666)GAG>AAG	p.E3222K	uc002jyi.1_Intron|RNF213_uc010dhx.1_Missense_Mutation_p.E166K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACCCAAACCGAGGAGCGCTT	0.512												
NPLOC4	55666	broad.mit.edu	37	17	79564302	79564302	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:79564302C>T	uc002kat.3	-	10	1144	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	NPLOC4_uc002kau.3_Missense_Mutation_p.R321Q|NPLOC4_uc010wur.1_Missense_Mutation_p.R160Q	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	321					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGTACCCTTTCGGGTATCTTC	0.443												
PCYT2	5833	broad.mit.edu	37	17	79866891	79866891	+	Silent	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:79866891C>G	uc002kcf.1	-	3	264	c.201G>C	c.(199-201)GGG>GGC	p.G67G	PCYT2_uc010wva.1_Silent_p.G35G|PCYT2_uc010wvb.1_Silent_p.G35G|PCYT2_uc002kce.1_5'UTR|PCYT2_uc002kcg.1_Silent_p.G78G|PCYT2_uc002kch.1_Silent_p.G67G|PCYT2_uc002kci.1_Silent_p.G8G|PCYT2_uc010dii.1_Silent_p.G67G|PCYT2_uc010wvc.1_5'UTR	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	67	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACACCGGGGGCCCCTTGTGCT	0.622												
NOTUM	147111	broad.mit.edu	37	17	79913388	79913388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:79913388C>A	uc010wvg.1	-	9	1293	c.1021G>T	c.(1021-1023)GAG>TAG	p.E341*		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	341						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCTGTGCCTCGTCAAACAGC	0.706												
HEXDC	284004	broad.mit.edu	37	17	80393683	80393683	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:80393683G>A	uc002kew.2	+	5	617	c.566G>A	c.(565-567)CGC>CAC	p.R189H	HEXDC_uc002kev.3_Missense_Mutation_p.R189H|HEXDC_uc010diq.2_Missense_Mutation_p.R189H|HEXDC_uc010wvm.1_RNA|HEXDC_uc010wvn.1_5'Flank			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	189					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAGGCCCGGCGCCCCAGCGTG	0.706												
HEXDC	284004	broad.mit.edu	37	17	80399708	80399708	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:80399708G>A	uc002kew.2	+	11	1247	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	HEXDC_uc002kev.3_Missense_Mutation_p.A429T|HEXDC_uc010diq.2_Silent_p.P401P|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	399					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCTACCACCGCCAGCGGAAG	0.637												
ZNF750	79755	broad.mit.edu	37	17	80788991	80788991	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:80788991G>A	uc002kga.2	-	2	1651	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	447						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTGCTCTGGCGGGTAGAGTCT	0.587												
ZFP161	7541	broad.mit.edu	37	18	5291431	5291431	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:5291431G>A	uc002kmq.2	-	4	937	c.776C>T	c.(775-777)GCC>GTC	p.A259V	ZFP161_uc002kmr.2_Missense_Mutation_p.A259V|ZFP161_uc010dkp.2_Missense_Mutation_p.A259V	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	259					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTCACTGGCGGCTGTTGTCCA	0.488												
PTPRM	5797	broad.mit.edu	37	18	8253339	8253339	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:8253339G>T	uc002knn.3	+	17	3145	c.2642G>T	c.(2641-2643)CGG>CTG	p.R881L	PTPRM_uc010dkv.2_Missense_Mutation_p.R894L|PTPRM_uc010wzl.1_Missense_Mutation_p.R668L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	881	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CCCGCCATCCGGGTGGCAGAC	0.602												
KIAA0802	23255	broad.mit.edu	37	18	8813022	8813022	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:8813022G>A	uc002knr.2	+	12	2792	c.2650G>A	c.(2650-2652)GCT>ACT	p.A884T	KIAA0802_uc002knq.2_Missense_Mutation_p.A843T|KIAA0802_uc002kns.2_Missense_Mutation_p.A252T	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1194											0						AGGCTCCTCCGCTGAGAGCAA	0.537												
GNAL	2774	broad.mit.edu	37	18	11872328	11872328	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:11872328G>A	uc010dkz.2	+	11	1108	c.862G>A	c.(862-864)GTC>ATC	p.V288I	GNAL_uc002kqc.2_Missense_Mutation_p.V365I|GNAL_uc002kqd.2_Missense_Mutation_p.V288I|GNAL_uc010wzt.1_Missense_Mutation_p.V81I	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	288					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GGCAGAAAAAGTCTTGGCAGG	0.328												
CEP192	55125	broad.mit.edu	37	18	13067918	13067918	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:13067918C>T	uc010xac.1	+	22	4657	c.4577C>T	c.(4576-4578)ACG>ATG	p.T1526M	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.T1051M|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Translation_Start_Site|CEP192_uc002krw.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1526										ovary(4)|pancreas(1)	5						ATAAACCGAACGCATGCCACT	0.358												
SETBP1	26040	broad.mit.edu	37	18	42532870	42532870	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:42532870C>T	uc010dni.2	+	4	3861	c.3565C>T	c.(3565-3567)CGG>TGG	p.R1189W		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1189						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGAGCGAGCGGCTGAGTAG	0.552									Schinzel-Giedion_syndrome			
SETBP1	26040	broad.mit.edu	37	18	42618454	42618454	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:42618454G>T	uc010dni.2	+	5	4301	c.4005G>T	c.(4003-4005)ATG>ATT	p.M1335I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1335						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTTTAGGGATGCCAAGTCCCC	0.463									Schinzel-Giedion_syndrome			
PIAS2	9063	broad.mit.edu	37	18	44392503	44392503	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:44392503T>C	uc002lck.2	-	14	1917	c.1759A>G	c.(1759-1761)AGC>GGC	p.S587G	PIAS2_uc010dnp.2_Missense_Mutation_p.S285G	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	587	Ser-rich.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TCATGGGAGCTGGTGGTGGTG	0.463												
CCDC11	220136	broad.mit.edu	37	18	47792706	47792706	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:47792706C>A	uc002lee.2	-	1	160	c.69G>T	c.(67-69)GTG>GTT	p.V23V		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	23										ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTGTGCTTACCACGATCACCA	0.632												
MAPK4	5596	broad.mit.edu	37	18	48190761	48190761	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:48190761G>A	uc002lev.2	+	2	1433	c.433G>A	c.(433-435)GTG>ATG	p.V145M	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.V145M	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	145	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTCCGCCAACGTGCTGCACAG	0.592												
CCDC68	80323	broad.mit.edu	37	18	52575028	52575028	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:52575028A>G	uc002lfs.2	-	11	1111	c.939T>C	c.(937-939)GCT>GCC	p.A313A	CCDC68_uc002lft.2_Silent_p.A313A	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	313										skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTGTAGAGACAGCCTTAGATA	0.393												
ELANE	1991	broad.mit.edu	37	19	852351	852351	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:852351C>T	uc002lqb.2	+	1	61	c.23C>T	c.(22-24)GCG>GTG	p.A8V		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	8					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGCCGACTCGCGTGTCTTTTC	0.677									Kostmann_syndrome			
ABCA7	10347	broad.mit.edu	37	19	1065352	1065352	+	Silent	SNP	G	G	A	rs145934264	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:1065352G>A	uc002lqw.3	+	47	6600	c.6369G>A	c.(6367-6369)GCG>GCA	p.A2123A	ABCA7_uc002lqy.2_Silent_p.A576A|ABCA7_uc010dsc.2_RNA|HMHA1_uc010xgd.1_5'Flank|HMHA1_uc002lqz.1_5'Flank|HMHA1_uc010xge.1_5'Flank|HMHA1_uc002lra.1_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	2123					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACCCCGCGCCAGGCCTGC	0.657											OREG0025112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
REXO1	57455	broad.mit.edu	37	19	1828274	1828274	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:1828274C>T	uc002lua.3	-	2	609	c.514G>A	c.(514-516)GCC>ACC	p.A172T	REXO1_uc010dsr.1_Missense_Mutation_p.A126T	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	172						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCAGGGGCGGCCAGTGGG	0.701												
SPPL2B	56928	broad.mit.edu	37	19	2345252	2345252	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2345252G>A	uc002lvs.2	+	14	1358	c.1278G>A	c.(1276-1278)GGG>GGA	p.G426G	SPPL2B_uc002lvr.2_Silent_p.G426G	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	426	Helical; (Potential).					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCCAGGGCTGCTGGTGG	0.672												
SLC39A3	29985	broad.mit.edu	37	19	2733324	2733324	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2733324C>T	uc002lwg.2	-	3	624	c.370G>A	c.(370-372)GGA>AGA	p.G124R	SLC39A3_uc010xgy.1_Missense_Mutation_p.G124R	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	124	Cytoplasmic (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCGATCCGGCGTTGAAG	0.662												
ZNF556	80032	broad.mit.edu	37	19	2877955	2877955	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2877955C>T	uc002lwp.1	+	4	1086	c.999C>T	c.(997-999)CAC>CAT	p.H333H	ZNF556_uc002lwq.2_Silent_p.H332H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	333	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACACAAACACGCGAGAACGC	0.512												
TLE6	79816	broad.mit.edu	37	19	2989174	2989174	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2989174G>T	uc002lwu.2	+	11	887	c.487G>T	c.(487-489)GGG>TGG	p.G163W	TLE6_uc002lwt.2_Missense_Mutation_p.G286W|TLE6_uc010dtg.2_Missense_Mutation_p.G286W|TLE6_uc002lwv.2_Missense_Mutation_p.G67W	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	163	WD 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGCACACGGGGAGCTCGT	0.602												
TBXA2R	6915	broad.mit.edu	37	19	3600260	3600260	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:3600260C>T	uc002lyg.1	-	2	587	c.373G>A	c.(373-375)GCC>ACC	p.A125T	TBXA2R_uc002lye.1_Missense_Mutation_p.A125T	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	125	Helical; Name=3; (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GAGGCCATGGCGGCCCCCAGC	0.716												
PIAS4	51588	broad.mit.edu	37	19	4037624	4037624	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:4037624C>T	uc002lzg.2	+	11	1294	c.1284C>T	c.(1282-1284)GAC>GAT	p.D428D		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	428					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCTCGGACGCCAATGGGC	0.692												
FSD1	79187	broad.mit.edu	37	19	4323385	4323385	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:4323385G>A	uc002lzy.2	+	12	1485	c.1332G>A	c.(1330-1332)CTG>CTA	p.L444L	FSD1_uc002lzz.2_Missense_Mutation_p.C414Y|FSD1_uc002maa.2_Silent_p.L257L	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	444	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGTGCTGCACACTTTCA	0.652												
UBXN6	80700	broad.mit.edu	37	19	4445546	4445546	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:4445546C>T	uc002man.1	-	11	1371	c.1275G>A	c.(1273-1275)CCG>CCA	p.P425P	UBXN6_uc010dty.1_Silent_p.P329P|UBXN6_uc002mam.1_Silent_p.P372P	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	425						microtubule organizing center|nucleus	protein binding				0						GGATGGAGTCCGGCTCGGCCC	0.617												
FUT6	2528	broad.mit.edu	37	19	5832493	5832493	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:5832493C>T	uc002mdf.1	-	4	612	c.86G>A	c.(85-87)TGT>TAT	p.C29Y	FUT6_uc002mdg.1_Missense_Mutation_p.C29Y|FUT6_uc002mdh.1_Missense_Mutation_p.C29Y|FUT6_uc010dul.1_Missense_Mutation_p.C29Y	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	29	Helical; Signal-anchor for type II membrane protein; (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						GGAGAAGAAACACACAGCCAT	0.607												
FUT5	2527	broad.mit.edu	37	19	5866758	5866758	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:5866758C>T	uc002mdo.3	-	2	1067	c.979G>A	c.(979-981)GCC>ACC	p.A327T	FUT5_uc010duo.2_Missense_Mutation_p.A327T	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	327	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						AGGTAGCGGGCGTGGTCCTTG	0.642												
RANBP3	8498	broad.mit.edu	37	19	5918537	5918537	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:5918537C>A	uc002mdw.2	-	15	1670	c.1443G>T	c.(1441-1443)GAG>GAT	p.E481D	RANBP3_uc002mdv.2_Missense_Mutation_p.E200D|RANBP3_uc002mdx.2_Missense_Mutation_p.E476D|RANBP3_uc002mdy.2_Missense_Mutation_p.E413D|RANBP3_uc002mdz.2_Missense_Mutation_p.E408D|RANBP3_uc010duq.2_Missense_Mutation_p.E386D|RANBP3_uc002mea.2_Missense_Mutation_p.E348D|RANBP3_uc010xix.1_Missense_Mutation_p.E353D	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	481	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CGCCCTGGTCCTCGGTGTCCA	0.627												
INSR	3643	broad.mit.edu	37	19	7184545	7184545	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7184545G>A	uc002mgd.1	-	3	865	c.756C>T	c.(754-756)TGC>TGT	p.C252C	INSR_uc002mge.1_Silent_p.C252C|INSR_uc002mgf.2_Silent_p.C252C	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	252	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCAGGCCACGCACTTGGTGG	0.632												
KIAA1543	57662	broad.mit.edu	37	19	7670158	7670158	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7670158C>T	uc002mgv.3	+	2	296	c.195C>T	c.(193-195)TAC>TAT	p.Y65Y	KIAA1543_uc002mgu.3_Silent_p.Y65Y	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	65					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CCGACCAGTACGCGCAGGAGC	0.622												
KIAA1543	57662	broad.mit.edu	37	19	7671163	7671163	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7671163C>A	uc002mgv.3	+	3	510	c.409C>A	c.(409-411)CAC>AAC	p.H137N	KIAA1543_uc002mgu.3_Missense_Mutation_p.H137N	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	137					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						ACAGGGAGCCCACCTAGCTGT	0.622												
MYO1F	4542	broad.mit.edu	37	19	8595116	8595116	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:8595116G>A	uc002mkg.2	-	21	2406	c.2292C>T	c.(2290-2292)TTC>TTT	p.F764F		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	764						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CCGAATCGGCGAAGTCCACCC	0.642												
OR2Z1	284383	broad.mit.edu	37	19	8842032	8842032	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:8842032C>T	uc010xkg.1	+	1	642	c.642C>T	c.(640-642)ATC>ATT	p.I214I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TTTCCCTCATCGCCACCTCCT	0.592												
MUC16	94025	broad.mit.edu	37	19	9069476	9069476	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:9069476T>C	uc002mkp.2	-	3	18174	c.17970A>G	c.(17968-17970)TCA>TCG	p.S5990S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5992	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTATCTCACCTGAGAAGCTAC	0.458												
MUC16	94025	broad.mit.edu	37	19	9077552	9077552	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:9077552A>G	uc002mkp.2	-	3	10098	c.9894T>C	c.(9892-9894)TCT>TCC	p.S3298S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3299	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGGAGTTCCAGAATAAAGGT	0.527												
KRI1	65095	broad.mit.edu	37	19	10670506	10670506	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:10670506C>A	uc002moy.1	-	10	934	c.925G>T	c.(925-927)GAG>TAG	p.E309*	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Nonsense_Mutation_p.E305*	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	309	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCGGCTCCTCGAAACGGAAA	0.602												
SMARCA4	6597	broad.mit.edu	37	19	11118655	11118655	+	Silent	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11118655A>C	uc002mqf.3	+	14	2363	c.2079A>C	c.(2077-2079)CCA>CCC	p.P693P	SMARCA4_uc010dxp.2_Silent_p.P693P|SMARCA4_uc010dxo.2_Silent_p.P693P|SMARCA4_uc002mqg.1_Silent_p.P693P|SMARCA4_uc010dxq.2_Silent_p.P693P|SMARCA4_uc010dxr.2_Silent_p.P693P|SMARCA4_uc002mqj.3_Silent_p.P693P|SMARCA4_uc010dxs.2_Silent_p.P693P	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	693					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCCAGATCCAGACAGCGATG	0.597			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
LDLR	3949	broad.mit.edu	37	19	11224068	11224068	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11224068C>T	uc002mqk.3	+	9	1469	c.1301C>T	c.(1300-1302)ACG>ATG	p.T434M	LDLR_uc010xlk.1_Missense_Mutation_p.T434M|LDLR_uc010xll.1_Missense_Mutation_p.T393M|LDLR_uc010xlm.1_Missense_Mutation_p.T287M|LDLR_uc010xln.1_Missense_Mutation_p.T307M|LDLR_uc010xlo.1_Missense_Mutation_p.T266M	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	434	LDL-receptor class B 1.|Extracellular (Potential).		T -> K (in Algeria-3).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCTCTGGACACGGAGGTGGCC	0.602												
KANK2	25959	broad.mit.edu	37	19	11304103	11304103	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11304103A>G	uc010dxv.2	-	6	1211	c.653T>C	c.(652-654)GTG>GCG	p.V218A	KANK2_uc002mqm.2_Missense_Mutation_p.V218A|KANK2_uc002mqo.3_Missense_Mutation_p.V218A|KANK2_uc002mqp.1_Missense_Mutation_p.V27A|KANK2_uc002mqq.2_Missense_Mutation_p.V218A	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	218	Potential.										0						CTCCTGGAGCACCGAGAGCTT	0.657												
ELAVL3	1995	broad.mit.edu	37	19	11565617	11565617	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11565617C>T	uc002mry.1	-	7	1208	c.828G>A	c.(826-828)TCG>TCA	p.S276S	ELAVL3_uc002mrx.1_Silent_p.S269S	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	276					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						ccgcgccccccgACAGGCCCA	0.567												
ZNF653	115950	broad.mit.edu	37	19	11598654	11598654	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11598654C>A	uc002mrz.1	-	4	677	c.624G>T	c.(622-624)GAG>GAT	p.E208D		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGGAGACTCCTCAGAGTCAG	0.657												
ECSIT	51295	broad.mit.edu	37	19	11624896	11624896	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11624896C>T	uc002msb.2	-	3	371	c.237G>A	c.(235-237)GCG>GCA	p.A79A	ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Silent_p.A79A|ECSIT_uc010dyd.2_Silent_p.A79A|ECSIT_uc010xma.1_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	79					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						CCCCACCAGGCGCCTGCCCAA	0.627												
ZNF490	57474	broad.mit.edu	37	19	12691650	12691650	+	Silent	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:12691650A>C	uc002mtz.2	-	5	1368	c.1239T>G	c.(1237-1239)ACT>ACG	p.T413T		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTTCTCGCCAGTGTGAACTC	0.378												
MAST1	22983	broad.mit.edu	37	19	12985201	12985201	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:12985201G>A	uc002mvm.2	+	26	4358	c.4230G>A	c.(4228-4230)GCG>GCA	p.A1410A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1410					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						TGGCCAAGGCGGCGCTGAGCC	0.726												
CC2D1A	54862	broad.mit.edu	37	19	14031609	14031609	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14031609G>A	uc002mxo.2	+	14	1814	c.1515G>A	c.(1513-1515)CTG>CTA	p.L505L	CC2D1A_uc002mxp.2_Silent_p.L505L|CC2D1A_uc010dzh.2_Silent_p.L74L|CC2D1A_uc002mxq.1_Silent_p.L150L	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	505	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGCAGCTCCTGCAGGCCGCAC	0.647												
CC2D1A	54862	broad.mit.edu	37	19	14037633	14037633	+	Splice_Site	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14037633G>T	uc002mxo.2	+	20	2373	c.2074_splice	c.e20-1	p.E692_splice	CC2D1A_uc002mxp.2_Splice_Site_p.E692_splice|CC2D1A_uc010dzh.2_Splice_Site_p.E261_splice|CC2D1A_uc002mxq.1_Splice_Site_p.E337_splice	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCTGGTCATAGGAAGAAGCTC	0.592												
PKN1	5585	broad.mit.edu	37	19	14581060	14581060	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14581060G>A	uc002myp.2	+	19	2547	c.2379G>A	c.(2377-2379)ACG>ACA	p.T793T	PKN1_uc002myq.2_Silent_p.T799T|PKN1_uc002myr.2_Silent_p.T133T	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	793	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						CGTCGTACACGCGAGCTGTGG	0.637												
ZNF333	84449	broad.mit.edu	37	19	14805828	14805828	+	Missense_Mutation	SNP	G	G	A	rs141404811	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14805828G>A	uc002mzn.2	+	3	144	c.10G>A	c.(10-12)GTC>ATC	p.V4I	ZNF333_uc010dzq.2_Missense_Mutation_p.V4I|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.V4I|ZNF333_uc002mzm.2_Missense_Mutation_p.V4I|ZNF333_uc010dzr.1_RNA	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	4	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTAGGAATCCGTCACCTTTGA	0.527												
OR10H1	26539	broad.mit.edu	37	19	15918418	15918418	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:15918418G>T	uc002nbq.2	-	1	519	c.430C>A	c.(430-432)CTG>ATG	p.L144M		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAGCCCACCAGGCAGGCGCAG	0.637												
ANKLE1	126549	broad.mit.edu	37	19	17394394	17394394	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:17394394G>A	uc002nga.2	+	5	1097	c.821G>A	c.(820-822)CGT>CAT	p.R274H	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.R296H|ANKLE1_uc010xpn.1_Missense_Mutation_p.R328H|ANKLE1_uc002nfy.2_Missense_Mutation_p.R263H|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	274						nuclear envelope					0						CTGAATGCCCGTCTGCAGGCC	0.612												
UNC13A	23025	broad.mit.edu	37	19	17780379	17780379	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:17780379C>T	uc002nhd.2	-	6	641	c.641G>A	c.(640-642)CGC>CAC	p.R214H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	126					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						TAGCTCAAAGCGCGTGTCCAG	0.612												
MAP1S	55201	broad.mit.edu	37	19	17838443	17838443	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:17838443G>A	uc002nhe.1	+	5	2259	c.2250G>A	c.(2248-2250)GCG>GCA	p.A750A	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Silent_p.A724A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	750	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				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			central_nervous_system(1)	1						ATCGCAAGGCGGTGCCAATGG	0.697												
MAST3	23031	broad.mit.edu	37	19	18256012	18256012	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18256012C>T	uc002nhz.3	+	23	2925	c.2925C>T	c.(2923-2925)GAC>GAT	p.D975D		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	975	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GTGATAGCGACGTCTACACTG	0.617												
PDE4C	5143	broad.mit.edu	37	19	18321983	18321983	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18321983T>G	uc010xqc.1	-	15	2375	c.1895A>C	c.(1894-1896)GAG>GCG	p.E632A	PDE4C_uc002nik.3_Missense_Mutation_p.E632A|PDE4C_uc002nil.3_Missense_Mutation_p.E632A|PDE4C_uc002nif.3_Missense_Mutation_p.E401A|PDE4C_uc002nig.3_Missense_Mutation_p.E347A|PDE4C_uc002nih.3_Missense_Mutation_p.E402A|PDE4C_uc010ebk.2_Missense_Mutation_p.E526A|PDE4C_uc002nii.3_Missense_Mutation_p.E600A|PDE4C_uc010ebl.2_Missense_Mutation_p.E346A	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	632					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	CTGGTACCACTCTCGATTGTC	0.547												
LRRC25	126364	broad.mit.edu	37	19	18502805	18502805	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18502805C>T	uc002niw.2	-	2	1552	c.910G>A	c.(910-912)GGG>AGG	p.G304R	LRRC25_uc002nix.2_Missense_Mutation_p.G304R	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	304	Cytoplasmic (Potential).					integral to membrane					0						GCTCAGTGCCCGGGGATCACG	0.428												
TSSK6	83983	broad.mit.edu	37	19	19625901	19625901	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:19625901C>T	uc002nmr.2	-	1	569	c.336G>A	c.(334-336)GCG>GCA	p.A112A	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	112	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						AGAGGTCGCGCGCCTGAACTC	0.657												
C19orf2	8725	broad.mit.edu	37	19	30502126	30502126	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:30502126G>A	uc002nsr.2	+	9	1191	c.1161G>A	c.(1159-1161)ACG>ACA	p.T387T	C19orf2_uc002nsq.2_Silent_p.T369T|C19orf2_uc002nss.2_Silent_p.T347T|C19orf2_uc002nst.2_Silent_p.T311T	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	387					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		CCATCAGGACGCCTGCAGACA	0.522												
ZNF536	9745	broad.mit.edu	37	19	30935293	30935293	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:30935293G>A	uc002nsu.1	+	2	962	c.824G>A	c.(823-825)CGC>CAC	p.R275H	ZNF536_uc010edd.1_Missense_Mutation_p.R275H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	275	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCGGGCTTCCGCTGTACCTTC	0.667												
TSHZ3	57616	broad.mit.edu	37	19	31770656	31770656	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:31770656A>G	uc002nsy.3	-	2	108	c.43T>C	c.(43-45)TAT>CAT	p.Y15H		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	15					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TCGGAAACATAGGCTGCCATG	0.368												
GRAMD1A	57655	broad.mit.edu	37	19	35504571	35504571	+	Silent	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:35504571A>C	uc010xse.1	+	9	983	c.846A>C	c.(844-846)CGA>CGC	p.R282R	GRAMD1A_uc002nxi.1_Silent_p.R369R|GRAMD1A_uc002nxk.2_Silent_p.R275R|GRAMD1A_uc002nxl.2_Silent_p.R48R|GRAMD1A_uc010xsf.1_Silent_p.R287R|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	282						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCTTTCCCGAGCCAGCAGCG	0.652												
COX6B1	1340	broad.mit.edu	37	19	36149497	36149497	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:36149497T>C	uc002oav.2	+	4	371	c.209T>C	c.(208-210)GTC>GCC	p.V70A		NM_001863	NP_001854	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1	70					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTCCACAGGTCACAGACTGG	0.493												
U2AF1L4	199746	broad.mit.edu	37	19	36234928	36234928	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:36234928C>T	uc002obg.2	-	5	482	c.173G>A	c.(172-174)CGC>CAC	p.R58H	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_Intron|U2AF1L4_uc002obe.2_Missense_Mutation_p.R117H|U2AF1L4_uc002obf.2_Intron|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	156	C3H1-type 2.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATACTGGCGACAGCATGA	0.577												
SPINT2	10653	broad.mit.edu	37	19	38782560	38782560	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:38782560C>T	uc002ohr.1	+	7	1004	c.673C>T	c.(673-675)CGG>TGG	p.R225W	SPINT2_uc002ohs.1_Missense_Mutation_p.R168W	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	225	Cytoplasmic (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGGGTGGCACGGAGGAACCA	0.622												
RYR1	6261	broad.mit.edu	37	19	38937165	38937165	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:38937165T>G	uc002oit.2	+	8	815	c.685T>G	c.(685-687)TGT>GGT	p.C229G	RYR1_uc002oiu.2_Missense_Mutation_p.C229G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	229	MIR 3.|Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TATGGATGAGTGTCTGACCAT	0.617												
SARS2	54938	broad.mit.edu	37	19	39435738	39435738	+	Silent	SNP	G	G	A	rs138216167		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:39435738G>A	uc010xuq.1	-	4	277	c.69C>T	c.(67-69)GGC>GGT	p.G23G	FBXO17_uc002okg.1_Silent_p.G188G|FBXO17_uc002okf.1_Silent_p.G197G	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	Error:Variant_position_missing_in_Q9NP81_after_alignment					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTCTCGAGCGCCCCACCTGC	0.627												
FBL	2091	broad.mit.edu	37	19	40331067	40331067	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40331067C>T	uc002omn.2	-	3	384	c.270G>A	c.(268-270)CCG>CCA	p.P90P	FBL_uc002omm.1_Silent_p.P4P|FBL_uc002omo.2_Silent_p.P89P|FBL_uc010egr.2_Silent_p.P90P	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	90					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGCCGATGCGGCTCCACCA	0.622												
ZNF780B	163131	broad.mit.edu	37	19	40541351	40541351	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40541351G>A	uc002omu.2	-	5	1480	c.1415C>T	c.(1414-1416)CCC>CTC	p.P472L	ZNF780B_uc002omv.2_Missense_Mutation_p.P324L	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCAAAGGGTTTCCCACC	0.388												
C19orf47	126526	broad.mit.edu	37	19	40829912	40829912	+	Splice_Site	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40829912C>A	uc002oni.3	-	8	775	c.774_splice	c.e8+1	p.K258_splice	C19orf47_uc002ong.2_Splice_Site_p.K117_splice|C19orf47_uc002onh.2_Splice_Site_p.K191_splice	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526											ovary(1)|skin(1)	2			Lung(22;0.000636)			TCCCCACTCACTTTACTCCCT	0.597												
HIPK4	147746	broad.mit.edu	37	19	40889748	40889748	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40889748G>T	uc002onp.2	-	2	1049	c.764C>A	c.(763-765)CCT>CAT	p.P255H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	255	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGCAGCGTCAGGGTGGGGGTT	0.632												
CYP2A6	1548	broad.mit.edu	37	19	41356252	41356252	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41356252C>G	uc002opl.3	-	1	101	c.80G>C	c.(79-81)AGG>ACG	p.R27T	CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	27					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTTGCTCTTCCTCTGCTGCCA	0.542												
CCDC97	90324	broad.mit.edu	37	19	41822684	41822684	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41822684C>A	uc002oqg.2	+	2	564	c.442C>A	c.(442-444)CGC>AGC	p.R148S	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	148											0						TGCCCGGCCCCGCACCCTGCG	0.677												
ZNF230	7773	broad.mit.edu	37	19	44513052	44513052	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:44513052G>A	uc002oyb.1	+	3	377	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				AGAACTTCACGAACCTGCTGT	0.517												
CLPTM1	1209	broad.mit.edu	37	19	45480718	45480718	+	Splice_Site	SNP	G	G	T	rs111806238		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:45480718G>T	uc002pai.2	+	5	601	c.586_splice	c.e5+1	p.M196_splice	CLPTM1_uc010ejv.1_Splice_Site_p.M94_splice|CLPTM1_uc010xxf.1_Splice_Site_p.M94_splice|CLPTM1_uc010xxg.1_Splice_Site_p.M182_splice	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane						cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGTCCCGGAGTAAGTCGCTC	0.622												
SFRS16	11129	broad.mit.edu	37	19	45570838	45570838	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:45570838C>T	uc002pak.2	+	14	1751	c.1653C>T	c.(1651-1653)GGC>GGT	p.G551G	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.G489G|SFRS16_uc002pam.2_Silent_p.G551G	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	551	Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGCTGTGGGCGAGAAGCTGA	0.468												
CD3EAP	10849	broad.mit.edu	37	19	45912137	45912137	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:45912137G>T	uc002pbq.1	+	3	1399	c.911G>T	c.(910-912)GGG>GTG	p.G304V	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.G306V	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	304					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCAGAGGAGGGGGTGACAGTT	0.537												
GIPR	2696	broad.mit.edu	37	19	46177354	46177354	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:46177354G>A	uc002pcu.1	+	6	506	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	GIPR_uc002pct.1_Missense_Mutation_p.R136Q|GIPR_uc010xxp.1_Missense_Mutation_p.R100Q|GIPR_uc010xxq.1_RNA|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	136	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATCTTGGAGCGGTTGCAGGTC	0.582												
PGLYRP1	8993	broad.mit.edu	37	19	46522823	46522823	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:46522823G>T	uc002pdx.1	-	2	414	c.370C>A	c.(370-372)CCC>ACC	p.P124T		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	124					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATGGACATGGGGTTCCATAAG	0.592												
GRLF1	2909	broad.mit.edu	37	19	47423229	47423229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:47423229C>T	uc010ekv.2	+	1	1297	c.1297C>T	c.(1297-1299)CGA>TGA	p.R433*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	433	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		AGTTGAGATGCGAAGGGCGTT	0.463												
GRLF1	2909	broad.mit.edu	37	19	47503931	47503931	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:47503931G>A	uc010ekv.2	+	6	4486	c.4486G>A	c.(4486-4488)GAA>AAA	p.E1496K		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	Error:Variant_position_missing_in_Q9NRY4_after_alignment					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GCTTCAAGCCGAACACACGCT	0.627												
CGB7	94027	broad.mit.edu	37	19	49557610	49557610	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:49557610G>A	uc002pmd.2	-	3	801	c.436C>T	c.(436-438)CCC>TCC	p.P146S	CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.P146S	NM_033142	NP_149133	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	146					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GGAAGGCTGGGGGGAGGGGCC	0.642												
SLC17A7	57030	broad.mit.edu	37	19	49939837	49939837	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:49939837G>A	uc002pnp.2	-	2	456	c.284C>T	c.(283-285)ACG>ATG	p.T95M	SLC17A7_uc002pnq.1_Missense_Mutation_p.T28M	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	95	Extracellular (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCGGTGGGTCGTGCTGTTATT	0.642												
PRR12	57479	broad.mit.edu	37	19	50128211	50128211	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:50128211G>A	uc002poo.3	+	12	5832	c.5832G>A	c.(5830-5832)ACG>ACA	p.T1944T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1123							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCGCAAGACGCTCAGCAAGC	0.667												
MYBPC2	4606	broad.mit.edu	37	19	50961933	50961933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:50961933C>T	uc002psf.2	+	21	2479	c.2428C>T	c.(2428-2430)CGA>TGA	p.R810*		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	810	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AATCCTCTTCCGAGTAGTTGG	0.667												
KLK15	55554	broad.mit.edu	37	19	51330155	51330155	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:51330155C>T	uc002ptl.2	-	3	491	c.460G>A	c.(460-462)GCT>ACT	p.A154T	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.A154T|KLK15_uc002pto.2_Missense_Mutation_p.A153T|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.A153T|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	154	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGGCTCCCAGCGGTCCCAGGC	0.692												
KLK5	25818	broad.mit.edu	37	19	51455908	51455908	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:51455908A>G	uc002pue.2	-	3	224	c.6T>C	c.(4-6)GCT>GCC	p.A2A	KLK5_uc002puf.2_Silent_p.A2A|KLK5_uc002pug.2_Silent_p.A2A	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	2					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTCTTGCTGTAGCCATGGCCG	0.617												
SIGLEC7	27036	broad.mit.edu	37	19	51645721	51645721	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:51645721G>A	uc002pvv.1	+	1	164	c.95G>A	c.(94-96)AGT>AAT	p.S32N	SIGLEC7_uc002pvw.1_Missense_Mutation_p.S32N|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.S32N	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	32	Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACGATGCAGAGTTCCGTGACC	0.493												
SIGLEC6	946	broad.mit.edu	37	19	52034722	52034722	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:52034722G>A	uc002pwy.2	-	2	281	c.119C>T	c.(118-120)ACG>ATG	p.T40M	SIGLEC6_uc002pwz.2_Missense_Mutation_p.T40M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.T40M|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.T29M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.T29M|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Missense_Mutation_p.T29M	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	40	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTCCTGCACCGTCAGTGACTC	0.627												
ZNF836	162962	broad.mit.edu	37	19	52658932	52658932	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:52658932A>G	uc010ydi.1	-	5	2378	c.2004T>C	c.(2002-2004)TGT>TGC	p.C668C	ZNF836_uc010ydj.1_Silent_p.C668C	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	668	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACAATCATTACATTTGTAAG	0.413												
ZNF480	147657	broad.mit.edu	37	19	52825457	52825457	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:52825457T>C	uc010ydl.1	+	5	1024	c.954T>C	c.(952-954)AAT>AAC	p.N318N	ZNF480_uc002pyv.2_Silent_p.N241N|ZNF480_uc010ydm.1_Silent_p.N275N|ZNF480_uc010epn.2_Silent_p.N149N|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	318	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACAAATGTAATGAATGTGGTA	0.368												
ZNF160	90338	broad.mit.edu	37	19	53571638	53571638	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:53571638G>A	uc010eqk.2	-	7	2565	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C	ZNF160_uc002qaq.3_Missense_Mutation_p.R717C|ZNF160_uc002qar.3_Missense_Mutation_p.R717C	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	717	C2H2-type 17.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		AGGCTTGAACGAACACTGAAG	0.448												
ZNF331	55422	broad.mit.edu	37	19	54080826	54080826	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:54080826T>G	uc002qbx.1	+	7	2446	c.1012T>G	c.(1012-1014)TGG>GGG	p.W338G	ZNF331_uc002qby.1_Missense_Mutation_p.W338G|ZNF331_uc002qbz.1_Missense_Mutation_p.W338G|ZNF331_uc002qca.1_Missense_Mutation_p.W338G|ZNF331_uc010eqr.1_Missense_Mutation_p.W338G|ZNF331_uc002qcb.1_Missense_Mutation_p.W338G|ZNF331_uc002qcc.1_Missense_Mutation_p.W338G|ZNF331_uc002qcd.1_Missense_Mutation_p.W338G	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	338	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GGCCTTTCGCTGGGGTTCGAG	0.522			T	?	follicular thyroid adenoma							
LAIR1	3903	broad.mit.edu	37	19	54872627	54872627	+	Missense_Mutation	SNP	C	C	T	rs146444027	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:54872627C>T	uc002qfk.1	-	3	570	c.260G>A	c.(259-261)CGC>CAC	p.R87H	LAIR1_uc002qfl.1_Missense_Mutation_p.R87H|LAIR1_uc002qfm.1_Missense_Mutation_p.R86H|LAIR1_uc002qfn.1_Missense_Mutation_p.R86H|LAIR1_uc010yex.1_Missense_Mutation_p.R80H|LAIR1_uc002qfo.2_Missense_Mutation_p.R69H	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	87	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGAGTCAATGCGGAATCTGGC	0.498												
KIR3DL1	3811	broad.mit.edu	37	19	55377854	55377854	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:55377854G>T	uc002qhl.3	+	8	1198	c.1135G>T	c.(1135-1137)GGG>TGG	p.G379W	KIR3DL2_uc010esh.2_Missense_Mutation_p.G362W|KIR3DL2_uc002qho.3_Missense_Mutation_p.G379W			P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	379	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		AGAGCCTGCGGGGGACAGAAC	0.542												
RDH13	112724	broad.mit.edu	37	19	55570558	55570558	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:55570558C>T	uc002qio.3	-	2	336	c.151G>A	c.(151-153)GGG>AGG	p.G51R	RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_Intron	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	51	NAD or NADP (By similarity).						binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GTCTGCTTCCCGATGCCTGTG	0.478												
PPP1R12C	54776	broad.mit.edu	37	19	55607662	55607662	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:55607662C>T	uc002qix.2	-	7	1009	c.993G>A	c.(991-993)GAG>GAA	p.E331E	PPP1R12C_uc010yfs.1_Silent_p.E257E|PPP1R12C_uc002qiy.2_Silent_p.E331E	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	331						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGCTTGGGGCTCCTGGCCCC	0.657												
NLRP13	126204	broad.mit.edu	37	19	56416401	56416401	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:56416401C>T	uc010ygg.1	-	8	2550	c.2525G>A	c.(2524-2526)CGA>CAA	p.R842Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	842	LRR 3.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGGCACAATCGAGTTACGTG	0.522												
NLRP8	126205	broad.mit.edu	37	19	56487605	56487605	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:56487605G>T	uc002qmh.2	+	8	2883	c.2812G>T	c.(2812-2814)GAT>TAT	p.D938Y	NLRP8_uc010etg.2_Missense_Mutation_p.D919Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	938	LRR 5.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAGCCTGAAGGATGATGGGGT	0.463												
ZNF583	147949	broad.mit.edu	37	19	56935008	56935008	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:56935008T>C	uc010ygl.1	+	5	1146	c.981T>C	c.(979-981)ATT>ATC	p.I327I	ZNF583_uc002qnc.2_Silent_p.I327I|ZNF583_uc010ygm.1_Silent_p.I327I	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	327	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCGAATGTATTGAATGTGGAA	0.408												
ZNF71	58491	broad.mit.edu	37	19	57133365	57133365	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:57133365C>T	uc002qnm.3	+	3	948	c.710C>T	c.(709-711)ACG>ATG	p.T237M		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	237						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGATCCACACGGGGGAGAAG	0.652												
ZNF8	7554	broad.mit.edu	37	19	58805558	58805558	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:58805558G>A	uc002qry.1	+	4	514	c.384G>A	c.(382-384)CCG>CCA	p.P128P	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGGATTCCCGACAGATGCTC	0.537												
ZNF132	7691	broad.mit.edu	37	19	58946494	58946494	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:58946494G>A	uc002qst.3	-	3	718	c.317C>T	c.(316-318)GCA>GTA	p.A106V		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	106	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGAAGGATCTGCATTAGGGAT	0.488												
TRIM28	10155	broad.mit.edu	37	19	59060698	59060698	+	Missense_Mutation	SNP	G	G	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:59060698G>C	uc002qtg.1	+	13	1952	c.1663G>C	c.(1663-1665)GAG>CAG	p.E555Q	TRIM28_uc010eut.1_Missense_Mutation_p.E473Q|TRIM28_uc002qth.1_Missense_Mutation_p.E170Q	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	555					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACCTTGCAGGAGGAGGAGAC	0.572												
PXDN	7837	broad.mit.edu	37	2	1653138	1653138	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:1653138G>A	uc002qxa.2	-	17	2478	c.2414C>T	c.(2413-2415)ACG>ATG	p.T805M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	805					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACGGTCTCCGTCCCGATCAG	0.652												
TTC15	51112	broad.mit.edu	37	2	3483101	3483101	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:3483101G>A	uc002qxm.1	+	12	2283	c.2077G>A	c.(2077-2079)GTG>ATG	p.V693M	TTC15_uc002qxn.1_Missense_Mutation_p.V693M|TTC15_uc010ewm.1_Intron	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	693							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		GCACGAGAGCGTGCTCTTCAA	0.637												
YWHAQ	10971	broad.mit.edu	37	2	9728377	9728377	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:9728377G>A	uc002qzw.2	-	3	663	c.499C>T	c.(499-501)CGC>TGC	p.R167C	YWHAQ_uc002qzx.2_Missense_Mutation_p.R167C	NM_006826	NP_006817	P27348	1433T_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	167					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		AGCCCCAGGCGGATTGGGTGT	0.428												
ROCK2	9475	broad.mit.edu	37	2	11332391	11332391	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:11332391G>T	uc002rbd.1	-	32	4495	c.4046C>A	c.(4045-4047)CCT>CAT	p.P1349H		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1349	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GGGCTTTTTAGGTATCTTTTT	0.413												
NCOA1	8648	broad.mit.edu	37	2	24930502	24930502	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:24930502G>T	uc002rfk.2	+	11	2421	c.2163G>T	c.(2161-2163)GTG>GTT	p.V721V	NCOA1_uc010eye.2_Silent_p.V721V|NCOA1_uc002rfi.2_Silent_p.V570V|NCOA1_uc002rfj.2_Silent_p.V721V|NCOA1_uc002rfl.2_Silent_p.V721V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	721									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGTCAGTGACTGGACAGG	0.423			T	PAX3	alveolar rhadomyosarcoma							
C2orf79	391356	broad.mit.edu	37	2	25013338	25013338	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:25013338C>T	uc002rfm.2	-	2	370	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	CENPO_uc002rfn.2_5'Flank|CENPO_uc002rfo.1_5'Flank|CENPO_uc002rfp.1_5'Flank|CENPO_uc002rfq.1_5'Flank	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN	hypothetical protein LOC391356	122					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity				0						GGGGTAGGGCCGGAGAGCAAT	0.502												
DNMT3A	1788	broad.mit.edu	37	2	25463308	25463308	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:25463308G>A	uc002rgc.2	-	19	2442	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	DNMT3A_uc002rgd.2_Missense_Mutation_p.R729W|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R540W	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	729					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R729Q(1)|p.R729W(1)		haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGAGCCGGCCAGTGCCC	0.612			Mis|F|N|S		AML							
DTNB	1838	broad.mit.edu	37	2	25611181	25611181	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:25611181C>T	uc002rgh.2	-	17	1875	c.1625G>A	c.(1624-1626)CGG>CAG	p.R542Q	DTNB_uc002rgg.2_Missense_Mutation_p.R171Q|DTNB_uc010yko.1_Missense_Mutation_p.R478Q|DTNB_uc010ykp.1_Missense_Mutation_p.R331Q|DTNB_uc002rgo.2_Missense_Mutation_p.R326Q|DTNB_uc002rgi.2_Missense_Mutation_p.R542Q|DTNB_uc002rgj.2_Missense_Mutation_p.R542Q|DTNB_uc002rgk.2_Missense_Mutation_p.R512Q|DTNB_uc002rgl.2_Missense_Mutation_p.R505Q|DTNB_uc002rgq.2_Missense_Mutation_p.R535Q|DTNB_uc002rgm.2_Missense_Mutation_p.R505Q|DTNB_uc002rgn.2_Missense_Mutation_p.R331Q|DTNB_uc002rgp.1_Missense_Mutation_p.R40Q	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	542						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCATTGGCCGGCCGCCTCC	0.622												
RAB10	10890	broad.mit.edu	37	2	26350067	26350067	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:26350067G>A	uc002rgv.2	+	4	1131	c.382G>A	c.(382-384)GAC>AAC	p.D128N		NM_016131	NP_057215	P61026	RAB10_HUMAN	ras-related GTP-binding protein RAB10	128					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATATGGACGACAAAAGAGT	0.318												
OTOF	9381	broad.mit.edu	37	2	26700603	26700603	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:26700603G>A	uc002rhk.2	-	19	2356	c.2229C>T	c.(2227-2229)AAC>AAT	p.N743N	OTOF_uc002rhh.2_Translation_Start_Site|OTOF_uc002rhi.2_Silent_p.N53N|OTOF_uc002rhj.2_Translation_Start_Site	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	743	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTATGTCGTTCAGGCCTT	0.617												
EMILIN1	11117	broad.mit.edu	37	2	27306220	27306220	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27306220G>A	uc002rii.3	+	4	2209	c.1781G>A	c.(1780-1782)CGC>CAC	p.R594H	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	594	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTAGGCCGCCTTCGGGAT	0.697												
CAD	790	broad.mit.edu	37	2	27454356	27454356	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27454356C>T	uc002rji.2	+	16	2470	c.2308C>T	c.(2308-2310)CGT>TGT	p.R770C	CAD_uc010eyw.2_Missense_Mutation_p.R707C	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	770	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGGCATTGGGCGTTCATTTGA	0.512												
SLC4A1AP	22950	broad.mit.edu	37	2	27890237	27890237	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27890237A>G	uc002rlk.3	+	3	1406	c.1124A>G	c.(1123-1125)CAA>CGA	p.Q375R		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	375						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					AAGGCTCTCCAAGGCTTTTTT	0.418												
CLIP4	79745	broad.mit.edu	37	2	29404460	29404460	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:29404460A>G	uc002rmv.2	+	16	2058	c.1819A>G	c.(1819-1821)AGT>GGT	p.S607G	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	607										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTTGCGTCGCAGTTGGAGCAG	0.522												
LCLAT1	253558	broad.mit.edu	37	2	30791031	30791031	+	Missense_Mutation	SNP	G	G	A	rs139333259	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:30791031G>A	uc002rnj.2	+	6	940	c.731G>A	c.(730-732)CGT>CAT	p.R244H	LCLAT1_uc010ymp.1_Missense_Mutation_p.R82H|LCLAT1_uc002rnk.1_Missense_Mutation_p.R244H|LCLAT1_uc002rnl.2_Missense_Mutation_p.R206H|LCLAT1_uc010ymq.1_Missense_Mutation_p.R206H	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	244					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						GTGGTAGACCGTCTAAGAGAA	0.328												
FAM98A	25940	broad.mit.edu	37	2	33810391	33810391	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:33810391C>T	uc002rpa.1	-	8	1083	c.1009G>A	c.(1009-1011)GGA>AGA	p.G337R	FAM98A_uc010yne.1_Missense_Mutation_p.G142R|FAM98A_uc010ynd.1_Missense_Mutation_p.G168R|FAM98A_uc002roz.1_Missense_Mutation_p.G175R	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	338	Gly-rich.			G -> V (in Ref. 2; CAB43217).						ovary(1)	1	all_hematologic(175;0.115)					CTCCCTCCTCCTCGGCCTCCT	0.587												
STRN	6801	broad.mit.edu	37	2	37113870	37113870	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:37113870T>C	uc002rpn.2	-	8	1040	c.1031A>G	c.(1030-1032)AAG>AGG	p.K344R	STRN_uc010ezx.2_Intron	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	344					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTTCACCCCCTTTTTCCCCTT	0.388												
STRN	6801	broad.mit.edu	37	2	37113874	37113874	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:37113874T>C	uc002rpn.2	-	8	1036	c.1027A>G	c.(1027-1029)AAA>GAA	p.K343E	STRN_uc010ezx.2_Intron	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	343					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACCCCCTTTTTCCCCTTTCTC	0.383												
PLEKHH2	130271	broad.mit.edu	37	2	43973034	43973034	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:43973034G>T	uc010yny.1	+	24	3668	c.3585G>T	c.(3583-3585)CAG>CAT	p.Q1195H		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1195	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGGGAACAGGCTTCCAAAG	0.383												
ABCG5	64240	broad.mit.edu	37	2	44053638	44053638	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:44053638T>C	uc002rtn.2	-	6	797	c.657A>G	c.(655-657)CCA>CCG	p.P219P	ABCG5_uc002rtm.2_Intron|ABCG5_uc002rto.2_Intron|ABCG5_uc002rtp.2_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	219	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCCTGTGGTTGGCTCATCAA	0.532												
SLC3A1	6519	broad.mit.edu	37	2	44540984	44540984	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:44540984G>A	uc002ruc.3	+	9	1589	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	SLC3A1_uc002rua.2_Missense_Mutation_p.R504H|SLC3A1_uc002rub.2_Missense_Mutation_p.R504H|SLC3A1_uc002rud.3_Missense_Mutation_p.R226H|SLC3A1_uc002rue.3_Missense_Mutation_p.R124H	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	504	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AATACCCTTCGCTCAAAGTCA	0.373												
TTC7A	57217	broad.mit.edu	37	2	47233862	47233862	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:47233862A>G	uc002rvo.2	+	10	1654	c.1286A>G	c.(1285-1287)AAG>AGG	p.K429R	TTC7A_uc002rvm.2_Missense_Mutation_p.K395R|TTC7A_uc002rvn.1_Missense_Mutation_p.K310R|TTC7A_uc010fbb.2_Missense_Mutation_p.K429R|TTC7A_uc010fbc.2_Missense_Mutation_p.K75R|TTC7A_uc002rvp.2_Missense_Mutation_p.K310R|TTC7A_uc002rvq.2_Missense_Mutation_p.K169R|TTC7A_uc002rvr.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	429	TPR 3.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTTGTGGGAAGGTAAGGCCC	0.602												
TTC7A	57217	broad.mit.edu	37	2	47251450	47251450	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:47251450C>T	uc002rvo.2	+	14	1961	c.1593C>T	c.(1591-1593)GAC>GAT	p.D531D	TTC7A_uc002rvm.2_Silent_p.D497D|TTC7A_uc002rvn.1_Silent_p.D412D|TTC7A_uc010fbb.2_Silent_p.D531D|TTC7A_uc010fbc.2_Silent_p.D177D|TTC7A_uc002rvp.2_Silent_p.D412D|TTC7A_uc002rvq.2_Silent_p.D271D|TTC7A_uc002rvr.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	531	TPR 4.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGCCCAGTGACCCCCAGGTCA	0.642												
NRXN1	9378	broad.mit.edu	37	2	51255042	51255042	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:51255042G>A	uc010fbq.2	-	2	1847	c.370C>T	c.(370-372)CGC>TGC	p.R124C	NRXN1_uc002rxe.3_Missense_Mutation_p.R124C|NRXN1_uc002rxd.1_Missense_Mutation_p.R124C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGGTGTTGCGGAACTGGCGG	0.652												
SPTBN1	6711	broad.mit.edu	37	2	54856880	54856880	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:54856880A>G	uc002rxu.2	+	14	2858	c.2609A>G	c.(2608-2610)CAG>CGG	p.Q870R	SPTBN1_uc002rxv.1_Missense_Mutation_p.Q870R|SPTBN1_uc002rxx.2_Missense_Mutation_p.Q857R	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	870	Spectrin 6.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GAGAAGGAGCAGTGGCTCAAC	0.602												
USP34	9736	broad.mit.edu	37	2	61441427	61441427	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:61441427C>T	uc002sbe.2	-	68	8472	c.8450G>A	c.(8449-8451)CGC>CAC	p.R2817H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2817					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			AACAATAAGGCGGATATTCTC	0.428												
AFTPH	54812	broad.mit.edu	37	2	64800123	64800123	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:64800123C>T	uc002sdc.2	+	5	2347	c.2315C>T	c.(2314-2316)GCT>GTT	p.A772V	AFTPH_uc002scz.2_Missense_Mutation_p.A772V|AFTPH_uc002sda.2_Missense_Mutation_p.A772V|AFTPH_uc002sdb.2_Missense_Mutation_p.A772V	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	772					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CCACTTTCTGCTGCAGAAAAA	0.408												
SPRED2	200734	broad.mit.edu	37	2	65571870	65571870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:65571870G>A	uc002sdr.3	-	2	722	c.187C>T	c.(187-189)CGA>TGA	p.R63*	SPRED2_uc010fcw.2_Nonsense_Mutation_p.R60*|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	63	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCTTTCTGTCGTTCACCATGG	0.478												
MCEE	84693	broad.mit.edu	37	2	71351378	71351378	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:71351378C>T	uc002shs.2	-	2	381	c.336G>A	c.(334-336)CTG>CTA	p.L112L		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	112					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						TGTTTTTCTGCAGAAAACCTG	0.378												
EXOC6B	23233	broad.mit.edu	37	2	72719479	72719479	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:72719479C>A	uc010fep.2	-	16	1771	c.1633G>T	c.(1633-1635)GTA>TTA	p.V545L	EXOC6B_uc002sij.2_Missense_Mutation_p.V545L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	545					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CTTTTAATTACATTCTGCAGA	0.428												
INO80B	83444	broad.mit.edu	37	2	74682557	74682557	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:74682557C>T	uc002slg.2	+	2	128	c.83C>T	c.(82-84)GCG>GTG	p.A28V	INO80B_uc002slf.1_Missense_Mutation_p.A15V|INO80B_uc010yrr.1_Missense_Mutation_p.A15V|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.A46V	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	28					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						TTGAGCCTGGCGGGTGCCCAT	0.473												
MOGS	7841	broad.mit.edu	37	2	74688756	74688756	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:74688756G>A	uc010ffj.2	-	4	2323	c.2160C>T	c.(2158-2160)CGC>CGT	p.R720R	MOGS_uc010ffh.2_Silent_p.R445R|MOGS_uc010yrt.1_Silent_p.R601R|MOGS_uc010ffi.2_Silent_p.R614R	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	720	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						TCCAGAGATGGCGGCTGTCGG	0.597												
CTNNA2	1496	broad.mit.edu	37	2	80136799	80136799	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:80136799T>C	uc010ysh.1	+	6	937	c.932T>C	c.(931-933)ATC>ACC	p.I311T	CTNNA2_uc010yse.1_Missense_Mutation_p.I311T|CTNNA2_uc010ysf.1_Missense_Mutation_p.I311T|CTNNA2_uc010ysg.1_Missense_Mutation_p.I311T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	311					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGAGCATCATCAGCGGCGCA	0.637												
LRRTM1	347730	broad.mit.edu	37	2	80530698	80530698	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:80530698C>T	uc002sok.1	-	2	517	c.247G>A	c.(247-249)GGC>AGC	p.G83S	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	83	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTGAACTGGCCGGCGCGCAGC	0.622										HNSCC(69;0.2)		
LRRTM1	347730	broad.mit.edu	37	2	80530714	80530714	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:80530714G>T	uc002sok.1	-	2	501	c.231C>A	c.(229-231)CTC>CTA	p.L77L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	77	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCAGCTCCGAGAGGCTGTTGT	0.647										HNSCC(69;0.2)		
TGOLN2	10618	broad.mit.edu	37	2	85554262	85554262	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:85554262G>A	uc010fgd.1	-	2	882	c.593C>T	c.(592-594)GCG>GTG	p.A198V	TGOLN2_uc002soz.2_Missense_Mutation_p.A198V|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.A198V|TGOLN2_uc002spc.1_Missense_Mutation_p.A198V	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	198	Extracellular (Potential).|14 X 14 AA tandem repeats.|11.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CTGATCCTCCGCACCCGACTT	0.587												
ST3GAL5	8869	broad.mit.edu	37	2	86075257	86075257	+	Missense_Mutation	SNP	G	G	A	rs140019292	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:86075257G>A	uc002sqq.1	-	4	518	c.389C>T	c.(388-390)GCG>GTG	p.A130V	ST3GAL5_uc010fgq.1_Missense_Mutation_p.A2V|ST3GAL5_uc002sqp.1_Missense_Mutation_p.A107V	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	130	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						AAATAACAGCGCCATTGATGT	0.473												
MAL	4118	broad.mit.edu	37	2	95713804	95713804	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:95713804C>G	uc002stx.1	+	2	253	c.194C>G	c.(193-195)GCC>GGC	p.A65G	MAL_uc002sty.1_Intron|MAL_uc002stz.1_Missense_Mutation_p.A65G|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	65	Helical; (Potential).|MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)		TGCTTCGTGGCCACCACCACC	0.612												
SNRNP200	23020	broad.mit.edu	37	2	96943574	96943574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:96943574G>A	uc002svu.2	-	40	5811	c.5725C>T	c.(5725-5727)CAG>TAG	p.Q1909*	SNRNP200_uc002svt.2_Nonsense_Mutation_p.Q519*|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1909	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GTATCTGACTGCAACTCAGCA	0.532												
NPAS2	4862	broad.mit.edu	37	2	101606731	101606731	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:101606731T>C	uc002tap.1	+	18	2127	c.1841T>C	c.(1840-1842)ATG>ACG	p.M614T	NPAS2_uc010yvt.1_Missense_Mutation_p.M679T|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	614					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CCAAAGCCAATGAGAAGCTCA	0.562												
MFSD9	84804	broad.mit.edu	37	2	103340244	103340244	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:103340244G>A	uc002tcb.2	-	5	620	c.552C>T	c.(550-552)CCC>CCT	p.P184P	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	184	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						CACCGACCACGGGGCCCAAGA	0.493												
GPR45	11250	broad.mit.edu	37	2	105859047	105859047	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:105859047G>A	uc002tco.1	+	1	848	c.732G>A	c.(730-732)GCG>GCA	p.A244A		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	244	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TCACCAGGGCGGGCCTGCGGC	0.642												
ST6GAL2	84620	broad.mit.edu	37	2	107460323	107460323	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:107460323C>A	uc002tdq.2	-	2	230	c.111G>T	c.(109-111)GAG>GAT	p.E37D	ST6GAL2_uc002tdr.2_Missense_Mutation_p.E37D|ST6GAL2_uc002tds.3_Missense_Mutation_p.E37D	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	37	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TGGGTACAGGCTCAGCGGGGT	0.587												
FOXD4L1	200350	broad.mit.edu	37	2	114257061	114257061	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:114257061C>T	uc002tjw.3	+	1	401	c.228C>T	c.(226-228)GGC>GGT	p.G76G		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	76					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						ACATCGAGGGCGGCGGCCCGA	0.677												
MARCO	8685	broad.mit.edu	37	2	119752091	119752091	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:119752091G>A	uc002tln.1	+	17	1690	c.1558G>A	c.(1558-1560)GTC>ATC	p.V520I	MARCO_uc010yyf.1_Missense_Mutation_p.V442I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GGAGTGCAGCGTCTGACCCGG	0.602												
SMPD4	55627	broad.mit.edu	37	2	130912733	130912733	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:130912733C>T	uc002tqq.1	-	15	2026	c.1506G>A	c.(1504-1506)GCG>GCA	p.A502A	SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Silent_p.A241A|SMPD4_uc010yzy.1_Silent_p.A251A|SMPD4_uc010yzz.1_Silent_p.A166A|SMPD4_uc002tqr.1_Silent_p.A473A|SMPD4_uc002tqs.1_Silent_p.A370A|SMPD4_uc002tqt.1_Silent_p.A351A|SMPD4_uc010zaa.1_Silent_p.A360A|SMPD4_uc010zab.1_Silent_p.A400A|SMPD4_uc010zac.1_Silent_p.A243A|SMPD4_uc010zad.1_Silent_p.A138A	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	463					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ACACCATGAGCGCGTGCTTGG	0.582												
NCKAP5	344148	broad.mit.edu	37	2	133540012	133540012	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:133540012C>T	uc002ttp.2	-	14	4746	c.4372G>A	c.(4372-4374)GCG>ACG	p.A1458T	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1458							protein binding				0						GCATCAGTCGCGGTTGCAGAG	0.507												
LRP1B	53353	broad.mit.edu	37	2	141272227	141272227	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:141272227A>G	uc002tvj.1	-	51	9236	c.8264T>C	c.(8263-8265)ATT>ACT	p.I2755T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2755	Extracellular (Potential).|LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACCACAAATGCTGTCACT	0.333										TSP Lung(27;0.18)		
ZEB2	9839	broad.mit.edu	37	2	145162430	145162430	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:145162430G>A	uc002tvu.2	-	5	1045	c.565C>T	c.(565-567)CCA>TCA	p.P189S	ZEB2_uc002tvv.2_Missense_Mutation_p.P183S|ZEB2_uc010zbm.1_Missense_Mutation_p.P160S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P218S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	189						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGCCTCTGGCGTGCCAAGG	0.512												
TANC1	85461	broad.mit.edu	37	2	160042391	160042391	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:160042391T>C	uc002uag.2	+	15	2874	c.2600T>C	c.(2599-2601)CTG>CCG	p.L867P	TANC1_uc010zcm.1_Missense_Mutation_p.L859P|TANC1_uc010fom.1_Missense_Mutation_p.L673P	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	867						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CACCACATCCTGAAGGCGCAC	0.512												
KCNH7	90134	broad.mit.edu	37	2	163250908	163250908	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:163250908C>T	uc002uch.1	-	12	2913	c.2701G>A	c.(2701-2703)GGA>AGA	p.G901R		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	901	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	CCTTTCTCTCCTTCACTTTCA	0.343												
CSRNP3	80034	broad.mit.edu	37	2	166514422	166514422	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:166514422C>T	uc002udf.2	+	5	676	c.300C>T	c.(298-300)AGC>AGT	p.S100S	CSRNP3_uc002udg.2_Silent_p.S100S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	100					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						GCCATAACAGCGTGCGCCAGT	0.552												
SCN1A	6323	broad.mit.edu	37	2	166903335	166903335	+	Missense_Mutation	SNP	T	T	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:166903335T>A	uc010zcz.1	-	9	1340	c.1322A>T	c.(1321-1323)GAG>GTG	p.E441V	SCN1A_uc002udo.3_Missense_Mutation_p.E310V|SCN1A_uc010fpk.2_Missense_Mutation_p.E310V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	441	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAATTCGGCCTCTTTCTGTTC	0.473												
SCN7A	6332	broad.mit.edu	37	2	167288977	167288977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:167288977C>A	uc002udu.1	-	15	2570	c.2443G>T	c.(2443-2445)GAG>TAG	p.E815*	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	815					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						GCGTTTTTCTCTGTGCCACTG	0.373												
XIRP2	129446	broad.mit.edu	37	2	168105800	168105800	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:168105800C>T	uc002udx.2	+	8	7916	c.7898C>T	c.(7897-7899)TCG>TTG	p.S2633L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2458L|XIRP2_uc010fpq.2_Missense_Mutation_p.S2411L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2458					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCACAACATCGCCAGAAACA	0.448												
LRP2	4036	broad.mit.edu	37	2	170097872	170097872	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:170097872G>A	uc002ues.2	-	25	3884	c.3671C>T	c.(3670-3672)ACC>ATC	p.T1224I	LRP2_uc010zdf.1_Missense_Mutation_p.T1087I	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1224	LDL-receptor class A 12.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGAGGCCTGGTTGCTAGAAG	0.448												
UBR3	130507	broad.mit.edu	37	2	170850862	170850862	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:170850862C>T	uc010zdi.1	+	26	3814	c.3814C>T	c.(3814-3816)CCA>TCA	p.P1272S	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.P93S|UBR3_uc002uft.3_Missense_Mutation_p.P125S	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1272					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						CAATGTTGAGCCAAAAAAGTT	0.403												
MYO3B	140469	broad.mit.edu	37	2	171258099	171258099	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:171258099C>T	uc002ufy.2	+	18	2170	c.2027C>T	c.(2026-2028)GCT>GTT	p.A676V	MYO3B_uc002ufv.2_Missense_Mutation_p.A663V|MYO3B_uc010fqb.1_Missense_Mutation_p.A663V|MYO3B_uc002ufz.2_Missense_Mutation_p.A676V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	676	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GTAGACAGGGCTGCGGACGTT	0.562												
DLX2	1746	broad.mit.edu	37	2	172965288	172965288	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:172965288C>T	uc002uhn.2	-	3	1182	c.970G>A	c.(970-972)GCG>ACG	p.A324T		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATCGTCCCCGCGCTCACCGGG	0.677												
HOXD3	3232	broad.mit.edu	37	2	177036642	177036642	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:177036642C>T	uc002ukt.1	+	3	1115	c.939C>T	c.(937-939)GCC>GCT	p.A313A		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	313					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACGGCCTGGCCGCCTACACGG	0.692												
HOXD3	3232	broad.mit.edu	37	2	177036654	177036654	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:177036654G>A	uc002ukt.1	+	3	1127	c.951G>A	c.(949-951)GCG>GCA	p.A317A		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	317					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCTACACGGCGCCACTCAGCA	0.692												
TTN	7273	broad.mit.edu	37	2	179404574	179404574	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179404574T>C	uc010zfg.1	-	301	90738	c.90514A>G	c.(90514-90516)AAG>GAG	p.K30172E	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K23867E|TTN_uc010zfi.1_Missense_Mutation_p.K23800E|TTN_uc010zfj.1_Missense_Mutation_p.K23675E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31099							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCTTCCTTGGTCCATTTA	0.428												
TTN	7273	broad.mit.edu	37	2	179413214	179413214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179413214G>A	uc010zfg.1	-	288	85659	c.85435C>T	c.(85435-85437)CGA>TGA	p.R28479*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R22174*|TTN_uc010zfi.1_Nonsense_Mutation_p.R22107*|TTN_uc010zfj.1_Nonsense_Mutation_p.R21982*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29406							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGATTCGGGCACCACCG	0.512												
TTN	7273	broad.mit.edu	37	2	179447201	179447201	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179447201G>T	uc010zfg.1	-	263	58502	c.58278C>A	c.(58276-58278)GAC>GAA	p.D19426E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13121E|TTN_uc010zfi.1_Missense_Mutation_p.D13054E|TTN_uc010zfj.1_Missense_Mutation_p.D12929E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20353							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACGTTTGTCAACAATAT	0.453												
TTN	7273	broad.mit.edu	37	2	179481674	179481674	+	Missense_Mutation	SNP	G	G	A	rs150364979	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179481674G>A	uc010zfg.1	-	205	40462	c.40238C>T	c.(40237-40239)ACG>ATG	p.T13413M	TTN_uc010zfh.1_Missense_Mutation_p.T7108M|TTN_uc010zfi.1_Missense_Mutation_p.T7041M|TTN_uc010zfj.1_Missense_Mutation_p.T6916M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14340							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCAGGATCGTGATAGGATT	0.418												
TTN	7273	broad.mit.edu	37	2	179501201	179501201	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179501201G>A	uc010zfg.1	-	174	33773	c.33549C>T	c.(33547-33549)TCC>TCT	p.S11183S	TTN_uc010zfh.1_Silent_p.S4878S|TTN_uc010zfi.1_Silent_p.S4811S|TTN_uc010zfj.1_Silent_p.S4686S|TTN_uc010fre.1_Silent_p.S1044S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12110							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAGCATCGGAAAGTTGAA	0.418												
MFSD6	54842	broad.mit.edu	37	2	191301852	191301852	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:191301852G>T	uc002urz.2	+	3	1421	c.1097G>T	c.(1096-1098)AGG>ATG	p.R366M		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	366					transmembrane transport	integral to membrane				ovary(2)	2						CCCGAGTACAGGAATTACCAG	0.547												
MYO1B	4430	broad.mit.edu	37	2	192257883	192257883	+	Missense_Mutation	SNP	C	C	T	rs147751540		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:192257883C>T	uc010fsg.2	+	20	2416	c.2161C>T	c.(2161-2163)CGC>TGC	p.R721C	MYO1B_uc002usq.2_Missense_Mutation_p.R721C|MYO1B_uc002usr.2_Missense_Mutation_p.R721C|MYO1B_uc002usu.2_5'UTR	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	721	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTGGAAATGCCGCACACACTT	0.413												
SDPR	8436	broad.mit.edu	37	2	192701367	192701367	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:192701367G>A	uc002utb.2	-	2	890	c.560C>T	c.(559-561)CCG>CTG	p.P187L		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	187						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GTTTTCATCCGGAAGCTCCTC	0.547												
PGAP1	80055	broad.mit.edu	37	2	197781161	197781161	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:197781161G>A	uc002utw.2	-	3	572	c.458C>T	c.(457-459)ACA>ATA	p.T153I	PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.T153I|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	153	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						TTTGAGAATTGTTTTAATACA	0.353												
TRAK2	66008	broad.mit.edu	37	2	202265809	202265809	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:202265809T>C	uc002uyb.3	-	4	741	c.295A>G	c.(295-297)ACA>GCA	p.T99A	TRAK2_uc002uyc.2_Missense_Mutation_p.T99A	NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	99						early endosome|plasma membrane	GABA receptor binding				0						ACCCTGTCTGTGCCTAGAACT	0.323												
STRADB	55437	broad.mit.edu	37	2	202339376	202339376	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:202339376G>A	uc002uyd.3	+	6	687	c.322G>A	c.(322-324)GTG>ATG	p.V108M		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	108	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						CTAGAAAGCCGTGATTCTATC	0.383												
NRP2	8828	broad.mit.edu	37	2	206659485	206659485	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:206659485C>T	uc002vaw.2	+	17	3290	c.2499C>T	c.(2497-2499)TAC>TAT	p.Y833Y	NRP2_uc002vax.2_Silent_p.Y828Y|NRP2_uc002vay.2_Silent_p.Y811Y	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	833	Extracellular (Potential).				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CAGATGAATACGAGGTGGACT	0.522												
RPE	6120	broad.mit.edu	37	2	210882219	210882219	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:210882219T>C	uc002vdn.2	+	5	505	c.500T>C	c.(499-501)TTC>TCC	p.F167S	RPE_uc002vdm.2_Missense_Mutation_p.F167S|RPE_uc002vdo.2_Missense_Mutation_p.F117S|RPE_uc010zjf.1_Intron|RPE_uc002vdp.2_Missense_Mutation_p.F114S|RPE_uc010fup.2_Missense_Mutation_p.F99S|RPE_uc002vdq.2_Missense_Mutation_p.F117S|RPE_uc002vdr.2_Missense_Mutation_p.F82S	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	167					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGGACCCAGTTCCCATCTTTG	0.373												
SPAG16	79582	broad.mit.edu	37	2	214354794	214354794	+	Silent	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:214354794C>G	uc002veq.2	+	10	1142	c.1050C>G	c.(1048-1050)CTC>CTG	p.L350L	SPAG16_uc010fuz.1_Silent_p.L201L|SPAG16_uc002ver.2_Silent_p.L296L|SPAG16_uc010zjk.1_Silent_p.L256L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	350	WD 1.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTTTTAGACTCCATGAACTTC	0.313												
SPAG16	79582	broad.mit.edu	37	2	214354804	214354804	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:214354804C>A	uc002veq.2	+	10	1152	c.1060C>A	c.(1060-1062)CCA>ACA	p.P354T	SPAG16_uc010fuz.1_Missense_Mutation_p.P205T|SPAG16_uc002ver.2_Missense_Mutation_p.P300T|SPAG16_uc010zjk.1_Missense_Mutation_p.P260T	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	354	WD 1.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CCATGAACTTCCAGTGAGCTG	0.318												
FN1	2335	broad.mit.edu	37	2	216226286	216226286	+	Nonsense_Mutation	SNP	G	G	A	rs146924311	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:216226286G>A	uc002vfa.2	-	46	7692	c.7426C>T	c.(7426-7428)CGA>TGA	p.R2476*	FN1_uc002vfb.2_Nonsense_Mutation_p.R2264*|FN1_uc002vfc.2_Nonsense_Mutation_p.R2239*|FN1_uc002vfd.2_Nonsense_Mutation_p.R2420*|FN1_uc002vfe.2_Nonsense_Mutation_p.R2354*|FN1_uc002vff.2_Nonsense_Mutation_p.R2329*|FN1_uc002vfg.2_Nonsense_Mutation_p.R2295*|FN1_uc002vfh.2_Nonsense_Mutation_p.R2175*|FN1_uc002vfi.2_Nonsense_Mutation_p.R2445*|FN1_uc002vfj.2_Nonsense_Mutation_p.R2266*|FN1_uc002vez.2_Nonsense_Mutation_p.R639*|FN1_uc010zjp.1_Nonsense_Mutation_p.R1013*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2385					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTACTCTCGGGAATCTTCT	0.408												
IGFBP2	3485	broad.mit.edu	37	2	217525350	217525350	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:217525350C>T	uc010zjt.1	+	4	642	c.492C>T	c.(490-492)GGC>GGT	p.G164G	IGFBP2_uc010zju.1_Silent_p.G99G	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	171					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		ACATGTTGGGCGGGGGAGGCA	0.607												
GPBAR1	151306	broad.mit.edu	37	2	219127871	219127871	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:219127871C>T	uc010zjw.1	+	2	671	c.424C>T	c.(424-426)CCC>TCC	p.P142S	GPBAR1_uc010zjx.1_Missense_Mutation_p.P142S|GPBAR1_uc010zjy.1_Missense_Mutation_p.P142S	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	142	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGTCTGCCCGCTCTGGG	0.652												
USP37	57695	broad.mit.edu	37	2	219328045	219328045	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:219328045G>A	uc002vie.2	-	22	2964	c.2511C>T	c.(2509-2511)ACC>ACT	p.T837T	USP37_uc010fvs.1_Silent_p.T837T|USP37_uc010zkf.1_Silent_p.T837T|USP37_uc002vif.2_Silent_p.T837T|USP37_uc002vig.2_Silent_p.T743T	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	837	UIM 3.				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GACTTAACTCGGTAGCTCTTT	0.244												
CCDC108	255101	broad.mit.edu	37	2	219875635	219875635	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:219875635A>T	uc002vjl.1	-	25	4125	c.4041T>A	c.(4039-4041)AAT>AAA	p.N1347K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1347						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGATCAAAATTTTTTTCCT	0.522												
PTPRN	5798	broad.mit.edu	37	2	220164967	220164967	+	Silent	SNP	C	C	T	rs143421810		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:220164967C>T	uc002vkz.2	-	9	1265	c.1176G>A	c.(1174-1176)CCG>CCA	p.P392P	PTPRN_uc010zlc.1_Silent_p.P302P|PTPRN_uc002vla.2_Silent_p.P392P	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	392	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGCCCTCCACCGGCCCCTCCA	0.637												
KCNE4	23704	broad.mit.edu	37	2	223918058	223918058	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:223918058C>A	uc002vnl.3	+	2	664	c.510C>A	c.(508-510)TCC>TCA	p.S170S		NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	170	Cytoplasmic (Potential).					integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCAGAATTCCTAGCACCCCC	0.582												
SERPINE2	5270	broad.mit.edu	37	2	224863030	224863030	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:224863030T>A	uc002vnu.2	-	3	532	c.289A>T	c.(289-291)AAG>TAG	p.K97*	SERPINE2_uc002vnt.2_Nonsense_Mutation_p.K97*|SERPINE2_uc010zlr.1_Nonsense_Mutation_p.K109*|SERPINE2_uc002vnv.2_Nonsense_Mutation_p.K97*	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	97					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACGATGGCCTTGTTGATCTTC	0.338												
KIAA1486	57624	broad.mit.edu	37	2	226446979	226446979	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:226446979C>T	uc002voe.2	+	4	1021	c.846C>T	c.(844-846)GAC>GAT	p.D282D	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.D52D	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	282										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		TGGGCCAAGACGCCAAATGTG	0.557												
COL4A3	1285	broad.mit.edu	37	2	228158020	228158020	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:228158020T>C	uc002vom.1	+	38	3486	c.3324T>C	c.(3322-3324)AGT>AGC	p.S1108S	COL4A3_uc002von.1_Silent_p.S1108S|COL4A3_uc002voo.1_Silent_p.S1108S|COL4A3_uc002vop.1_Silent_p.S1108S|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1108	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTCCTGGAAGTCCTGGCCTCC	0.512												
DNER	92737	broad.mit.edu	37	2	230223322	230223322	+	Silent	SNP	G	G	A	rs139616890		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:230223322G>A	uc002vpv.2	-	13	2295	c.2148C>T	c.(2146-2148)ATC>ATT	p.I716I		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	716	Cytoplasmic (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTTCATAGGCGATGGGGCTCA	0.358												
DNER	92737	broad.mit.edu	37	2	230231681	230231681	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:230231681C>A	uc002vpv.2	-	12	2157	c.2010G>T	c.(2008-2010)CAG>CAT	p.Q670H		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	670	Cytoplasmic (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGAAGAACCCTGGTATTCAA	0.547												
DIS3L2	129563	broad.mit.edu	37	2	233001390	233001390	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:233001390G>A	uc010fxz.2	+	8	1187	c.911G>A	c.(910-912)CGC>CAC	p.R304H	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	304							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTCATCTGCCGCATTGTGGAC	0.507												
ALPP	250	broad.mit.edu	37	2	233243925	233243925	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:233243925C>T	uc002vsq.2	+	3	374	c.209C>T	c.(208-210)ACG>ATG	p.T70M	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	70						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGGTGTCTACGGTGACAGCT	0.612												
ALPP	250	broad.mit.edu	37	2	233246265	233246265	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:233246265C>T	uc002vsq.2	+	11	1533	c.1368C>T	c.(1366-1368)GGC>GGT	p.G456G	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	456						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCACGCAGGCGAGGACGTGG	0.662												
TRPM8	79054	broad.mit.edu	37	2	234846108	234846108	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:234846108C>T	uc002vvh.2	+	4	343	c.303C>T	c.(301-303)GAC>GAT	p.D101D	TRPM8_uc010fyj.2_Translation_Start_Site|TRPM8_uc002vvi.3_Silent_p.D51D|TRPM8_uc002vvj.3_Silent_p.D24D	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	101	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTCCTACCGACGCCTTTGGGG	0.483												
COL6A3	1293	broad.mit.edu	37	2	238280909	238280909	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:238280909C>T	uc002vwl.2	-	9	4036	c.3751G>A	c.(3751-3753)GTT>ATT	p.V1251I	COL6A3_uc002vwo.2_Missense_Mutation_p.V1045I|COL6A3_uc010znj.1_Missense_Mutation_p.V644I|COL6A3_uc002vwq.2_Missense_Mutation_p.V1045I|COL6A3_uc002vwr.2_Missense_Mutation_p.V844I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1251	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGTGCGAACGTACTGGAAC	0.567												
HDAC4	9759	broad.mit.edu	37	2	239975163	239975163	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:239975163C>T	uc002vyk.3	-	26	4000	c.3208G>A	c.(3208-3210)GAA>AAA	p.E1070K	HDAC4_uc010fyy.2_Missense_Mutation_p.E1027K	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1070	Nuclear export signal (By similarity).|Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACCTCTTTTCGGCGGGCTTC	0.632												
HDLBP	3069	broad.mit.edu	37	2	242203992	242203992	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:242203992G>A	uc002waz.2	-	4	333	c.105C>T	c.(103-105)AGC>AGT	p.S35S	HDLBP_uc002wba.2_Silent_p.S35S|HDLBP_uc002wbb.2_Silent_p.S56S|HDLBP_uc010fzn.1_5'UTR|uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	35					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTGGAGGGTCGCTCTCCTCTT	0.483												
C2orf85	285093	broad.mit.edu	37	2	242815402	242815402	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:242815402C>T	uc010fzu.1	+	2	1718	c.1695C>T	c.(1693-1695)CCC>CCT	p.P565P		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	565						integral to membrane				ovary(1)	1						GGCTGAACCCCGGGATCTACC	0.652												
TRIB3	57761	broad.mit.edu	37	20	368740	368740	+	Missense_Mutation	SNP	G	G	A	rs142361535	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:368740G>A	uc002wdm.2	+	2	592	c.86G>A	c.(85-87)CGT>CAT	p.R29H	TRIB3_uc002wdn.2_Missense_Mutation_p.R56H	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	29					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GATACCGAGCGTCCCGTCCAG	0.607												
PTPRA	5786	broad.mit.edu	37	20	3003439	3003439	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3003439G>A	uc010zqd.1	+	15	1783	c.1466G>A	c.(1465-1467)CGG>CAG	p.R489Q	PTPRA_uc002whj.2_Missense_Mutation_p.R478Q|PTPRA_uc002whk.2_Missense_Mutation_p.R469Q|PTPRA_uc002whl.2_Missense_Mutation_p.R469Q|PTPRA_uc002whm.2_Missense_Mutation_p.R245Q|PTPRA_uc002whn.2_Missense_Mutation_p.R469Q|PTPRA_uc002who.2_Missense_Mutation_p.R141Q	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	478	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						AGCCGGATCCGGGCACAGCGC	0.547												
SLC4A11	83959	broad.mit.edu	37	20	3209181	3209181	+	Missense_Mutation	SNP	C	C	T	rs145325200		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3209181C>T	uc002wig.2	-	17	2461	c.2413G>A	c.(2413-2415)GTG>ATG	p.V805M	SLC4A11_uc010zqe.1_Missense_Mutation_p.V832M|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.V789M	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	805	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AGCAGGGCCACGCGCTGGACG	0.687												
SIGLEC1	6614	broad.mit.edu	37	20	3669825	3669825	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3669825C>T	uc002wja.2	-	20	5047	c.5047G>A	c.(5047-5049)GCT>ACT	p.A1683T	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Intron	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1683	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TTCTGAAAAGCCATCTCCACC	0.557												
HSPA12B	116835	broad.mit.edu	37	20	3725645	3725645	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3725645C>T	uc002wjd.2	+	5	466	c.363C>T	c.(361-363)ACC>ACT	p.T121T	HSPA12B_uc010zqi.1_Silent_p.T121T|HSPA12B_uc002wje.2_Silent_p.T34T|HSPA12B_uc010zqj.1_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	121							ATP binding				0						TTGGCTACACCGCCCGCGATT	0.632												
CENPB	1059	broad.mit.edu	37	20	3765886	3765886	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3765886C>T	uc002wjk.2	-	1	1452	c.1245G>A	c.(1243-1245)GAG>GAA	p.E415E	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	415	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						cttcctcctcctcttcttcct	0.189												
MCM8	84515	broad.mit.edu	37	20	5963723	5963723	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:5963723A>G	uc002wmi.2	+	14	2022	c.1645A>G	c.(1645-1647)AGC>GGC	p.S549G	MCM8_uc002wmj.2_Missense_Mutation_p.S533G|MCM8_uc002wmk.2_Missense_Mutation_p.S589G|MCM8_uc002wml.2_Missense_Mutation_p.S549G|MCM8_uc010gbp.2_Missense_Mutation_p.S502G|MCM8_uc002wmm.2_Missense_Mutation_p.S87G	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	549	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TGTGGTTTGTAGCCTTCCTGC	0.408												
TMX4	56255	broad.mit.edu	37	20	7963217	7963217	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:7963217G>A	uc002wmx.1	-	8	864	c.731C>T	c.(730-732)GCG>GTG	p.A244V		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	244	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						ttcctcctcCGCATCCTGCAA	0.229												
CSRP2BP	57325	broad.mit.edu	37	20	18143375	18143375	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:18143375C>T	uc002wqj.2	+	7	2079	c.1457C>T	c.(1456-1458)CCG>CTG	p.P486L	CSRP2BP_uc002wqk.2_Missense_Mutation_p.P358L|CSRP2BP_uc010zru.1_Missense_Mutation_p.P357L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	486					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GCCATGACTCCGGAAGCTCGG	0.498												
CSRP2BP	57325	broad.mit.edu	37	20	18143544	18143544	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:18143544G>A	uc002wqj.2	+	7	2248	c.1626G>A	c.(1624-1626)ACG>ACA	p.T542T	CSRP2BP_uc002wqk.2_Silent_p.T414T|CSRP2BP_uc010zru.1_Silent_p.T413T	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	542					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GACAAGCCACGTACAGAACCA	0.498												
PAX1	5075	broad.mit.edu	37	20	21687221	21687221	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:21687221C>T	uc002wsj.2	+	2	486	c.432C>T	c.(430-432)CAC>CAT	p.H144H	PAX1_uc010zsl.1_Silent_p.H144H|PAX1_uc010zsm.1_Silent_p.H120H	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	144	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GCGTATCCCACGGCTGCGTGA	0.687												
ACSS1	84532	broad.mit.edu	37	20	24988454	24988454	+	Missense_Mutation	SNP	C	C	T	rs143890712		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:24988454C>T	uc002wub.2	-	14	2892	c.2014G>A	c.(2014-2016)GCA>ACA	p.A672T	ACSS1_uc002wuc.2_Missense_Mutation_p.A670T|ACSS1_uc010gdc.2_Missense_Mutation_p.A467T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A589T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	672					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGATCTCTGCGATGATGCTG	0.602												
ACSS1	84532	broad.mit.edu	37	20	25004177	25004177	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:25004177G>A	uc002wub.2	-	4	1610	c.732C>T	c.(730-732)ACC>ACT	p.T244T	ACSS1_uc002wuc.2_Silent_p.T244T|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Silent_p.T161T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	244					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGCTGCACGGTGGGGCAGT	0.582												
NINL	22981	broad.mit.edu	37	20	25439088	25439088	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:25439088A>G	uc002wux.1	-	22	3848	c.3774T>C	c.(3772-3774)CGT>CGC	p.R1258R	NINL_uc010gdn.1_Silent_p.R909R|NINL_uc002wuw.1_Silent_p.R49R	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1258	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCTCGGCCACACGGTCCTGGG	0.677												
NECAB3	63941	broad.mit.edu	37	20	32248127	32248127	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:32248127T>C	uc002wzn.3	-	6	568	c.462A>G	c.(460-462)CAA>CAG	p.Q154Q	NECAB3_uc002wzl.2_5'UTR|NECAB3_uc002wzm.3_Silent_p.Q154Q|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Silent_p.Q105Q|NECAB3_uc002wzq.3_Silent_p.Q154Q|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Silent_p.Q154Q|C20orf144_uc002wzs.1_5'Flank	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	154					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1						TCTGAAGGGCTTGCAGCTGGC	0.642												
PIGU	128869	broad.mit.edu	37	20	33245009	33245009	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:33245009G>A	uc002xas.2	-	2	370	c.170C>T	c.(169-171)CCG>CTG	p.P57L	PIGU_uc010zul.1_Missense_Mutation_p.P57L|PIGU_uc002xat.2_Missense_Mutation_p.P57L|PIGU_uc010gev.1_RNA	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	57					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane					0						TCCAGAATACGGAGATACTCC	0.393												
NCOA6	23054	broad.mit.edu	37	20	33328372	33328372	+	Silent	SNP	C	C	T	rs141863711		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:33328372C>T	uc002xav.2	-	12	8259	c.5688G>A	c.(5686-5688)CCG>CCA	p.P1896P	NCOA6_uc002xaw.2_Silent_p.P1896P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1896	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						AGGCAGTGCCCGGGCCCACAG	0.602												
TRPC4AP	26133	broad.mit.edu	37	20	33593526	33593526	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:33593526G>A	uc002xbk.2	-	16	1942	c.1908C>T	c.(1906-1908)GAC>GAT	p.D636D	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.D227D|TRPC4AP_uc002xbl.2_Silent_p.D628D|TRPC4AP_uc010zur.1_Silent_p.D597D	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	636					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTTCAAATCGGTCCAGGGACA	0.507												
RBM12	10137	broad.mit.edu	37	20	34241632	34241632	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:34241632T>C	uc002xdq.2	-	3	1845	c.1613A>G	c.(1612-1614)GAT>GGT	p.D538G	CPNE1_uc010zvj.1_5'UTR|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.D538G|RBM12_uc002xds.2_Missense_Mutation_p.D538G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	538						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGAGTTGACATCCCCCTCTGG	0.393												
RBL1	5933	broad.mit.edu	37	20	35672624	35672624	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:35672624C>A	uc002xgi.2	-	13	1714	c.1635G>T	c.(1633-1635)GAG>GAT	p.E545D	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.E545D	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	545	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TTGAGAGCCCCTCTTCTGAGC	0.483												
TGM2	7052	broad.mit.edu	37	20	36766620	36766620	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:36766620C>T	uc002xhr.2	-	10	1610	c.1510G>A	c.(1510-1512)GTC>ATC	p.V504I	TGM2_uc010zvx.1_Missense_Mutation_p.V423I|TGM2_uc010zvy.1_Missense_Mutation_p.V444I|TGM2_uc002xhs.1_Missense_Mutation_p.V480I|TGM2_uc002xht.2_Missense_Mutation_p.V504I	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	504					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGCGGCAGACGTACTCCTCA	0.592												
PPP1R16B	26051	broad.mit.edu	37	20	37547109	37547109	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:37547109C>A	uc002xje.2	+	11	1693	c.1504C>A	c.(1504-1506)CTG>ATG	p.L502M	PPP1R16B_uc010ggc.2_Missense_Mutation_p.L460M	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	502					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TAGCACACACCTGGGCAGCAG	0.622												
MAFB	9935	broad.mit.edu	37	20	39317281	39317281	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:39317281C>T	uc002xji.2	-	1	596	c.210G>A	c.(208-210)TCG>TCA	p.S70S		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	70					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				TGAAGCTGGGCGACGAGGGCA	0.672			T	IGH@	MM							
RIMS4	140730	broad.mit.edu	37	20	43384955	43384955	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43384955C>A	uc002xms.2	-	6	630	c.630G>T	c.(628-630)AAG>AAT	p.K210N	RIMS4_uc010ggu.2_Missense_Mutation_p.K211N	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	210	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CCATGAACTGCTTCCGCTCCA	0.622												
YWHAB	7529	broad.mit.edu	37	20	43530295	43530295	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43530295G>A	uc002xmt.2	+	3	403	c.121G>A	c.(121-123)GAA>AAA	p.E41K	YWHAB_uc002xmu.2_Missense_Mutation_p.E41K	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	41					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				ACTCTCCAACGAAGAGAGAAA	0.527												
MATN4	8785	broad.mit.edu	37	20	43933003	43933003	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43933003C>T	uc002xnn.2	-	3	695	c.508G>A	c.(508-510)GCG>ACG	p.A170T	MATN4_uc002xno.2_Missense_Mutation_p.A170T|MATN4_uc002xnp.2_Missense_Mutation_p.A170T|MATN4_uc010zwr.1_Missense_Mutation_p.A118T|MATN4_uc002xnr.1_Missense_Mutation_p.A170T|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	170	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				ACCCCCACCGCGTAAATTTCA	0.706												
RBPJL	11317	broad.mit.edu	37	20	43945395	43945395	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43945395C>T	uc002xns.2	+	12	1422	c.1350C>T	c.(1348-1350)CGC>CGT	p.R450R	RBPJL_uc002xnt.2_Missense_Mutation_p.R454C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	450	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGCTGCGCGCTCCCATCA	0.697												
MMP9	4318	broad.mit.edu	37	20	44642001	44642001	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:44642001C>T	uc002xqz.2	+	9	1457	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	480					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCCTCAGAGCgccccacagc	0.463											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZMYND8	23613	broad.mit.edu	37	20	45912325	45912325	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:45912325C>T	uc002xta.1	-	9	1066	c.812G>A	c.(811-813)TGT>TAT	p.C271Y	ZMYND8_uc010ghr.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xst.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xsu.1_Missense_Mutation_p.C271Y|ZMYND8_uc002xsv.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xsw.1_Missense_Mutation_p.C23Y|ZMYND8_uc002xsx.1_Missense_Mutation_p.C23Y|ZMYND8_uc002xsy.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xsz.1_Missense_Mutation_p.C208Y|ZMYND8_uc010zxy.1_Missense_Mutation_p.C298Y|ZMYND8_uc002xtb.1_Missense_Mutation_p.C291Y|ZMYND8_uc002xss.2_Missense_Mutation_p.C271Y|ZMYND8_uc010zxz.1_Missense_Mutation_p.C266Y|ZMYND8_uc002xtc.1_Missense_Mutation_p.C291Y|ZMYND8_uc002xtd.1_Missense_Mutation_p.C266Y|ZMYND8_uc002xte.1_Missense_Mutation_p.C271Y|ZMYND8_uc010zya.1_Missense_Mutation_p.C271Y|ZMYND8_uc002xtf.1_Missense_Mutation_p.C291Y|ZMYND8_uc002xtg.2_Missense_Mutation_p.C265Y|ZMYND8_uc010ghs.1_Missense_Mutation_p.C265Y	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	271							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ACAAGGCTCACAAAACCAGTT	0.388												
PREX1	57580	broad.mit.edu	37	20	47317313	47317313	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:47317313C>T	uc002xtw.1	-	7	918	c.895G>A	c.(895-897)GTC>ATC	p.V299I		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	299	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTGCAGTAGACGAGAAGGTTG	0.483												
STAU1	6780	broad.mit.edu	37	20	47732351	47732351	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:47732351C>A	uc002xud.2	-	13	2097	c.1686G>T	c.(1684-1686)GAG>GAT	p.E562D	STAU1_uc002xua.2_Missense_Mutation_p.E481D|STAU1_uc002xub.2_Missense_Mutation_p.E487D|STAU1_uc002xuc.2_Missense_Mutation_p.E481D|STAU1_uc002xue.2_Missense_Mutation_p.E481D|STAU1_uc002xuf.2_Missense_Mutation_p.E487D|STAU1_uc002xug.2_Missense_Mutation_p.E562D	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	562						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTCTTGGCATCTCTGTACTTT	0.522												
ZNFX1	57169	broad.mit.edu	37	20	47887640	47887640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:47887640G>A	uc002xui.2	-	3	956	c.709C>T	c.(709-711)CGA>TGA	p.R237*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	237							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TACTGGTTTCGGATGTCAGGG	0.483												
DOK5	55816	broad.mit.edu	37	20	53208299	53208299	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:53208299G>A	uc002xwy.2	+	5	774	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DOK5_uc010gin.2_Missense_Mutation_p.R77Q|DOK5_uc002xwz.2_Missense_Mutation_p.R47Q	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	185	IRS-type PTB.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGCGCCCTGCGGCGGTATGGA	0.458												
CASS4	57091	broad.mit.edu	37	20	55027043	55027043	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:55027043G>A	uc002xxp.2	+	6	1036	c.811G>A	c.(811-813)GCT>ACT	p.A271T	CASS4_uc002xxq.3_Missense_Mutation_p.A271T|CASS4_uc002xxr.2_Missense_Mutation_p.A271T|CASS4_uc010zze.1_Missense_Mutation_p.A217T|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	271					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						AAGGCCCCACGCTCTCCCCAG	0.507												
GNAS	2778	broad.mit.edu	37	20	57430058	57430058	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:57430058G>A	uc002xzw.2	+	1	2023	c.1738G>A	c.(1738-1740)GAG>AAG	p.E580K	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAGCGGAGACGAGTCCGACGA	0.662			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
GNAS	2778	broad.mit.edu	37	20	57480483	57480483	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:57480483C>T	uc002xzw.2	+	6	2692	c.2407C>T	c.(2407-2409)CGT>TGT	p.R803C	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R101C|GNAS_uc002xzx.2_Missense_Mutation_p.R101C|GNAS_uc010gjr.2_Missense_Mutation_p.R51C|GNAS_uc002xzy.2_Missense_Mutation_p.R86C|GNAS_uc002yaa.2_Missense_Mutation_p.R146C|GNAS_uc010zzt.1_Missense_Mutation_p.R161C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R51C|GNAS_uc002yae.2_Missense_Mutation_p.R85C	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	160					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAAGGAGTGCGTGCCTGCTA	0.468			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
C20orf177	63939	broad.mit.edu	37	20	58519319	58519319	+	Silent	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:58519319T>G	uc002yba.2	+	5	736	c.321T>G	c.(319-321)CCT>CCG	p.P107P	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.P107P	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	107										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			CCATTCCTCCTTCTCCCCTCA	0.408												
CDH26	60437	broad.mit.edu	37	20	58559743	58559743	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:58559743T>C	uc002ybe.2	+	6	891	c.591T>C	c.(589-591)ACT>ACC	p.T197T	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	197	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGAAAACACTCCAAATTCTC	0.368												
TAF4	6874	broad.mit.edu	37	20	60551303	60551303	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:60551303A>G	uc002ybs.2	-	15	3179	c.3179T>C	c.(3178-3180)CTC>CCC	p.L1060P		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1060					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGGTCCCTGAGGTTGACCCG	0.552												
TAF4	6874	broad.mit.edu	37	20	60551312	60551312	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:60551312C>T	uc002ybs.2	-	15	3170	c.3170G>A	c.(3169-3171)CGG>CAG	p.R1057Q		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1057					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGGTTGACCCGCGTGATTCT	0.537												
GTPBP5	26164	broad.mit.edu	37	20	60772933	60772933	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:60772933G>A	uc002yce.3	+	4	416	c.378G>A	c.(376-378)TCG>TCA	p.S126S	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_Intron|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Silent_p.S126S	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	126	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AGTCCCTGTCGTCGGTCCTGT	0.547												
COL20A1	57642	broad.mit.edu	37	20	61944226	61944226	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:61944226G>A	uc011aau.1	+	16	2116	c.2016G>A	c.(2014-2016)CCG>CCA	p.P672P	COL20A1_uc011aav.1_Silent_p.P493P	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	672	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCGCAGCCCCGTCTGGCGTGC	0.662												
KCNQ2	3785	broad.mit.edu	37	20	62076149	62076149	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:62076149C>T	uc002yey.1	-	4	730	c.553G>A	c.(553-555)GCC>ACC	p.A185T	KCNQ2_uc002yez.1_Missense_Mutation_p.A185T|KCNQ2_uc002yfa.1_Missense_Mutation_p.A185T|KCNQ2_uc002yfb.1_Missense_Mutation_p.A185T|KCNQ2_uc011aax.1_Missense_Mutation_p.A185T|KCNQ2_uc002yfc.1_Missense_Mutation_p.A185T	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	185	Helical; Name=Segment S3; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGGAGCCGGCGGCCAGCACC	0.657												
ZGPAT	84619	broad.mit.edu	37	20	62366010	62366010	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:62366010C>T	uc002ygk.2	+	5	1063	c.885C>T	c.(883-885)GAC>GAT	p.D295D	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Intron|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_Intron|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	295					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGGGTCGGACGCCGTGGACT	0.617												
NPBWR2	2832	broad.mit.edu	37	20	62738071	62738071	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:62738071G>A	uc011abt.1	-	1	114	c.114C>T	c.(112-114)TCC>TCT	p.S38S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	38	Extracellular (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCAGTGGCTCGGAGAAGGTGG	0.617												
TMPRSS15	5651	broad.mit.edu	37	21	19701570	19701570	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:19701570G>A	uc002ykw.2	-	15	1727	c.1696C>T	c.(1696-1698)CTT>TTT	p.L566F		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	566	Extracellular (Potential).|CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TGAAAATGAAGTTGTATATTC	0.308												
APP	351	broad.mit.edu	37	21	27423456	27423456	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:27423456G>A	uc002ylz.2	-	5	722	c.522C>T	c.(520-522)TGC>TGT	p.C174C	APP_uc010glk.2_Silent_p.C169C|APP_uc002yma.2_Silent_p.C174C|APP_uc011ach.1_Silent_p.C118C|APP_uc002ymb.2_Silent_p.C174C|APP_uc010glj.2_Silent_p.C118C|APP_uc011aci.1_Silent_p.C139C|APP_uc011acj.1_Silent_p.C174C	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	174	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGTCAATTCCGCAGGGCAGCA	0.483												
ADAMTS5	11096	broad.mit.edu	37	21	28306952	28306952	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:28306952A>G	uc002ymg.2	-	4	2251	c.1522T>C	c.(1522-1524)TGT>CGT	p.C508R		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	508	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATGCCGGGACACACGGAGTAC	0.617												
KRTAP27-1	643812	broad.mit.edu	37	21	31709452	31709452	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:31709452C>T	uc002ynx.1	-	1	561	c.535G>A	c.(535-537)GTT>ATT	p.V179I		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	179						intermediate filament				ovary(2)	2						TCAGGTGCAACATTGACCAGA	0.453												
TIAM1	7074	broad.mit.edu	37	21	32502560	32502560	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:32502560G>A	uc002yow.1	-	26	4488	c.4016C>T	c.(4015-4017)GCG>GTG	p.A1339V	TIAM1_uc011adk.1_Missense_Mutation_p.A1339V|TIAM1_uc011adl.1_Missense_Mutation_p.A1279V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1339	PH 2.		A -> V (in a colorectal cancer sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A1339V(1)|p.A1339A(1)		lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AACCTGCAGCGCTTCCGTGGG	0.483												
SFRS15	57466	broad.mit.edu	37	21	33065696	33065696	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:33065696C>T	uc002ypd.2	-	12	1850	c.1424G>A	c.(1423-1425)CGA>CAA	p.R475Q	SFRS15_uc002ype.2_Missense_Mutation_p.R475Q|SFRS15_uc010glu.2_Missense_Mutation_p.R460Q|SFRS15_uc002ypf.1_Missense_Mutation_p.R149Q	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	475						nucleus	nucleotide binding|RNA binding				0						AGATCGAGATCGGGGAGAATG	0.507												
DOPEY2	9980	broad.mit.edu	37	21	37602959	37602959	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:37602959C>T	uc002yvg.2	+	14	1956	c.1877C>T	c.(1876-1878)ACG>ATG	p.T626M	DOPEY2_uc011aeb.1_Missense_Mutation_p.T626M	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	626					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						ATGCAGAGGACGTTTCTTTGC	0.532												
DYRK1A	1859	broad.mit.edu	37	21	38862711	38862711	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:38862711G>A	uc002ywk.2	+	6	974	c.899G>A	c.(898-900)CGC>CAC	p.R300H	DYRK1A_uc002ywi.2_Missense_Mutation_p.R300H|DYRK1A_uc002ywj.2_Missense_Mutation_p.R291H|DYRK1A_uc002ywl.2_Missense_Mutation_p.R300H|DYRK1A_uc002ywm.2_Missense_Mutation_p.R300H|DYRK1A_uc011aei.1_Missense_Mutation_p.R61H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	300	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						AACCCCAAACGCAGTGCAATC	0.383												
SIK1	150094	broad.mit.edu	37	21	44838242	44838242	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:44838242C>T	uc002zdf.2	-	12	1769	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	548					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						ACTGGGGTGGCGGACTGCGAC	0.711												
RRP1B	23076	broad.mit.edu	37	21	45103227	45103227	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45103227C>A	uc002zdk.2	+	9	978	c.864C>A	c.(862-864)ACC>ACA	p.T288T	RRP1B_uc002zdl.2_5'Flank	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	288					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		ACTGTGGAACCTTTGAGGACA	0.433												
PWP2	5822	broad.mit.edu	37	21	45550604	45550604	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45550604A>G	uc002zeb.2	+	21	2801	c.2711A>G	c.(2710-2712)CAT>CGT	p.H904R	C21orf33_uc002zec.3_5'Flank|C21orf33_uc002zed.3_5'Flank	NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	904						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GACAGCCTGCATCTGCTTGGA	0.582												
KRTAP10-1	386677	broad.mit.edu	37	21	45959433	45959433	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45959433G>A	uc002zfh.1	-	1	646	c.601C>T	c.(601-603)CCC>TCC	p.P201S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	201	18.|24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1						GAGCAGACGGGCACACAGCAG	0.652												
KRTAP10-4	386672	broad.mit.edu	37	21	45994702	45994702	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45994702G>A	uc002zfk.1	+	1	1097	c.1067G>A	c.(1066-1068)AGA>AAA	p.R356K	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	356	36 X 5 AA repeats of C-C-X(3).|34.					keratin filament					0						TCCTGCTGCAGACCCTCCTCC	0.657												
PCBP3	54039	broad.mit.edu	37	21	47361613	47361613	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47361613C>T	uc002zhq.1	+	14	1234	c.1109C>T	c.(1108-1110)ACG>ATG	p.T370M	PCBP3_uc002zhp.1_Missense_Mutation_p.T350M|PCBP3_uc002zhs.1_Missense_Mutation_p.T344M|PCBP3_uc002zhr.1_Missense_Mutation_p.T369M|PCBP3_uc002zht.1_Missense_Mutation_p.T360M	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	370					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GGGATGGGCACGCTGTAATCC	0.642												
COL6A2	1292	broad.mit.edu	37	21	47536721	47536721	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47536721G>T	uc002zia.1	+	10	1074	c.992G>T	c.(991-993)GGA>GTA	p.G331V	COL6A2_uc002zhy.1_Missense_Mutation_p.G331V|COL6A2_uc002zhz.1_Missense_Mutation_p.G331V|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	331	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGACCGATGGACAGAAGGTA	0.622												
COL6A2	1292	broad.mit.edu	37	21	47542798	47542798	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47542798G>T	uc002zia.1	+	21	1700	c.1618G>T	c.(1618-1620)GGC>TGC	p.G540C	COL6A2_uc002zhy.1_Missense_Mutation_p.G540C|COL6A2_uc002zhz.1_Missense_Mutation_p.G540C|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	540	Cell attachment site (Potential).|Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGAGGCCGAGGCGACTTTGG	0.562												
PCNT	5116	broad.mit.edu	37	21	47836279	47836279	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47836279G>A	uc002zji.3	+	30	6554	c.6447G>A	c.(6445-6447)GCG>GCA	p.A2149A	PCNT_uc002zjj.2_Silent_p.A2031A	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2149					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCATAGACGCGTGTGATGCCA	0.448												
POTEH	23784	broad.mit.edu	37	22	16287790	16287790	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:16287790G>A	uc010gqp.2	-	1	148	c.96C>T	c.(94-96)TTC>TTT	p.F32F	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	32										skin(1)	1						TGCACCAGGCGAAGCAGTGGC	0.582												
MICAL3	57553	broad.mit.edu	37	22	18273780	18273780	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:18273780T>C	uc002zng.3	-	31	6161	c.5808A>G	c.(5806-5808)GAA>GAG	p.E1936E	MICAL3_uc011agl.1_Silent_p.E1852E|MICAL3_uc010grd.1_Silent_p.E52E|MICAL3_uc010gre.1_RNA	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1936	Potential.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCCATGCGTTCCCGGAGCT	0.642												
DGCR2	9993	broad.mit.edu	37	22	19052574	19052574	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:19052574A>G	uc002zoq.1	-	4	583	c.335T>C	c.(334-336)CTA>CCA	p.L112P	DGCR2_uc002zor.1_Intron|DGCR2_uc011agr.1_Intron	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	112	Extracellular (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					GCACTTCCCTAGGAAACATAA	0.552												
SEPT5	5413	broad.mit.edu	37	22	19707945	19707945	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:19707945C>T	uc002zpv.1	+	6	590	c.465C>T	c.(463-465)TGC>TGT	p.C155C	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	155					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					GAGTGCACTGCTGCCTATACT	0.587												
DGCR8	54487	broad.mit.edu	37	22	20097586	20097586	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20097586G>A	uc002zri.2	+	14	2627	c.2277G>A	c.(2275-2277)GCG>GCA	p.A759A	DGCR8_uc010grz.2_Silent_p.A726A|DGCR8_uc002zrj.2_Silent_p.A402A	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	759	Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					CCATTGTGGCGTCCGCCCAGC	0.652												
TRMT2A	27037	broad.mit.edu	37	22	20100532	20100532	+	Splice_Site	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20100532T>C	uc002zrk.1	-	12	1765	c.1550_splice	c.e12-1	p.H517_splice	TRMT2A_uc002zrl.1_Splice_Site_p.H517_splice|TRMT2A_uc002zrm.1_Splice_Site_p.H339_splice|TRMT2A_uc002zrn.1_Splice_Site_p.H535_splice	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C						RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						CCTTGGAATCTGAGGAGGCAA	0.582												
RTN4R	65078	broad.mit.edu	37	22	20230512	20230512	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20230512C>T	uc002zrv.2	-	2	345	c.144G>A	c.(142-144)CTG>CTA	p.L48L	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	48	LRRNT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GCACAGCCTGCAGGCCCTGCT	0.672												
ZNF74	7625	broad.mit.edu	37	22	20760918	20760918	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20760918A>G	uc010gsm.2	+	6	1807	c.1595A>G	c.(1594-1596)GAG>GGG	p.E532G	ZNF74_uc002zsg.2_Missense_Mutation_p.E461G|ZNF74_uc002zsh.2_Missense_Mutation_p.E532G|ZNF74_uc002zsi.2_Missense_Mutation_p.E461G|ZNF74_uc010gsn.2_Missense_Mutation_p.E461G	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	532	C2H2-type 11.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGTGCAGCGAGTGCGGCAGA	0.552												
PI4KA	5297	broad.mit.edu	37	22	21159385	21159385	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:21159385C>T	uc002zsz.3	-	11	1294	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	PI4KA_uc010gsq.1_Missense_Mutation_p.E413K	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	355					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTCTGGAGCTCCCCCTGGCTC	0.547												
CABIN1	23523	broad.mit.edu	37	22	24560440	24560440	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:24560440G>A	uc002zzi.1	+	30	4946	c.4819G>A	c.(4819-4821)GTG>ATG	p.V1607M	CABIN1_uc002zzj.1_Missense_Mutation_p.V1528M|CABIN1_uc002zzl.1_Missense_Mutation_p.V1607M|CABIN1_uc002zzm.1_Missense_Mutation_p.V32M	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1607					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CCGCTCCATCGTGCTGCTGCT	0.637												
CRYBB2	1415	broad.mit.edu	37	22	25627692	25627692	+	Missense_Mutation	SNP	C	C	T	rs148209404		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:25627692C>T	uc003abp.1	+	6	619	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_000496	NP_000487	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens				0						GCGCCGTATCCGCGACATGCA	0.652												
LRP5L	91355	broad.mit.edu	37	22	25750563	25750563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:25750563C>A	uc003abs.2	-	3	3120	c.655G>T	c.(655-657)GGA>TGA	p.G219*	LRP5L_uc011ajz.1_Nonsense_Mutation_p.G219*|LRP5L_uc010guw.1_Missense_Mutation_p.G219W	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	219											0						CTGGACTCACCGACGACCTTG	0.582												
TFIP11	24144	broad.mit.edu	37	22	26888314	26888314	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:26888314C>T	uc003acr.2	-	14	2553	c.2179G>A	c.(2179-2181)GCA>ACA	p.A727T	TFIP11_uc003acq.2_Missense_Mutation_p.A86T|TFIP11_uc003acs.2_Missense_Mutation_p.A727T|TFIP11_uc003act.2_Missense_Mutation_p.A727T|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	727					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCTCCCGTGCTCCTGGCTGC	0.582												
MN1	4330	broad.mit.edu	37	22	28194071	28194071	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:28194071C>T	uc003adj.2	-	1	3416	c.2461G>A	c.(2461-2463)GGC>AGC	p.G821S		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	821							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CAGCTCTGGCCGAACAGGTTG	0.632			T	ETV6	AML|meningioma							
AP1B1	162	broad.mit.edu	37	22	29747754	29747754	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:29747754G>A	uc003afj.2	-	8	1183	c.999C>T	c.(997-999)TAC>TAT	p.Y333Y	AP1B1_uc003afi.2_Silent_p.Y333Y|AP1B1_uc003afk.2_Silent_p.Y333Y|AP1B1_uc003afl.2_Silent_p.Y333Y|AP1B1_uc011ako.1_5'Flank	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	333					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						CCAGCTTCACGTAGATAGGGT	0.567												
TCN2	6948	broad.mit.edu	37	22	31011453	31011453	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:31011453C>T	uc003aip.1	+	5	904	c.746C>T	c.(745-747)GCA>GTA	p.A249V	TCN2_uc003aiq.1_Missense_Mutation_p.A245V|TCN2_uc003air.1_Missense_Mutation_p.A222V	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	249					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCCCATTGGCATTACAGGTG	0.602												
SLC5A4	6527	broad.mit.edu	37	22	32628914	32628914	+	Silent	SNP	C	C	T	rs143604627		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:32628914C>T	uc003ami.2	-	9	995	c.993G>A	c.(991-993)CCG>CCA	p.P331P		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	331	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						TGATCATCCCCGGCATCACCA	0.473												
HMGXB4	10042	broad.mit.edu	37	22	35680012	35680012	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:35680012A>G	uc003anl.2	+	6	1447	c.1273A>G	c.(1273-1275)ATT>GTT	p.I425V	HMGXB4_uc003ank.2_Missense_Mutation_p.I316V	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	425	HMG box.				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						TCGCGTGACCATTGTGGCTGA	0.413												
CSF2RB	1439	broad.mit.edu	37	22	37334428	37334428	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37334428C>T	uc003aqa.3	+	14	2795	c.2578C>T	c.(2578-2580)CCC>TCC	p.P860S	CSF2RB_uc003aqc.3_Missense_Mutation_p.P866S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	860	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	AGTCAAGAAGCCCCCAGGCCA	0.622												
SSTR3	6753	broad.mit.edu	37	22	37603287	37603287	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37603287G>A	uc003ara.2	-	2	618	c.556C>T	c.(556-558)CGC>TGC	p.R186C	SSTR3_uc003arb.2_Missense_Mutation_p.R186C	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	186	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CTCATGCCGCGGGGCACTCCC	0.726												
ELFN2	114794	broad.mit.edu	37	22	37769212	37769212	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37769212G>A	uc003asq.3	-	3	3149	c.2363C>T	c.(2362-2364)GCC>GTC	p.A788V		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	788	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GGCGTGACCGGCGGCCATGTA	0.607												
ELFN2	114794	broad.mit.edu	37	22	37769986	37769986	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37769986G>A	uc003asq.3	-	3	2375	c.1589C>T	c.(1588-1590)TCG>TTG	p.S530L		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	530	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CTCTGCAGCCGAGCCCTGGCC	0.607												
GGA1	26088	broad.mit.edu	37	22	38028140	38028140	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:38028140C>T	uc003atc.2	+	15	2031	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	GGA1_uc003atd.2_Missense_Mutation_p.R469C|GGA1_uc003ate.2_Missense_Mutation_p.R552C|GGA1_uc003atf.2_Missense_Mutation_p.R483C|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	556	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CCAGCCCATCCGCAACATCGT	0.642												
MAFF	23764	broad.mit.edu	37	22	38610474	38610474	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:38610474G>A	uc011anp.1	+	3	422	c.84G>A	c.(82-84)GCG>GCA	p.A28A	MAFF_uc003avc.2_Silent_p.A28A|MAFF_uc011anq.1_5'UTR|MAFF_uc011anr.1_Silent_p.A28A|MAFF_uc003avd.2_Missense_Mutation_p.A78T	NM_001161572	NP_001155044	Q9ULX9	MAFF_HUMAN	transcription factor MAFF isoform a	28					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.045)					CGGACGAGGCGCTGATGGGGC	0.682												
SUN2	25777	broad.mit.edu	37	22	39135767	39135767	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:39135767A>G	uc003awh.1	-	14	1822	c.1538T>C	c.(1537-1539)CTG>CCG	p.L513P	SUN2_uc011anz.1_Missense_Mutation_p.L548P|SUN2_uc011aoa.1_Missense_Mutation_p.L502P|SUN2_uc003awi.1_Missense_Mutation_p.L513P|SUN2_uc010gxq.1_Missense_Mutation_p.L534P|SUN2_uc010gxr.1_Missense_Mutation_p.L513P|SUN2_uc010gxs.1_Missense_Mutation_p.L513P	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	513	Perinuclear space.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						CTGCAGCGTCAGGCTCAGGGA	0.627												
EP300	2033	broad.mit.edu	37	22	41513540	41513540	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:41513540G>A	uc003azl.3	+	2	839	c.444G>A	c.(442-444)ACG>ACA	p.T148T		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	148					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AGGGTCCTACGCAGTCAACAG	0.498			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
TEF	7008	broad.mit.edu	37	22	41790188	41790188	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:41790188C>T	uc003azy.2	+	3	650	c.564C>T	c.(562-564)GCC>GCT	p.A188A	TEF_uc003azx.2_Silent_p.A158A|TEF_uc011apa.1_Silent_p.A193A	NM_003216	NP_003207	Q10587	TEF_HUMAN	thyrotrophic embryonic factor isoform 1	188	Pro-rich (proline/acidic region (PAR)).				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGGACCCCGCCGACCTGGTGC	0.557												
PACSIN2	11252	broad.mit.edu	37	22	43289531	43289531	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:43289531C>T	uc010gzg.2	-	3	371	c.149G>A	c.(148-150)CGC>CAC	p.R50H	PACSIN2_uc003bdg.3_Missense_Mutation_p.R50H|PACSIN2_uc003bde.3_Missense_Mutation_p.R50H|PACSIN2_uc003bdf.3_Missense_Mutation_p.R50H	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	50	FCH.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				CTTCTCGATGCGCGCCCGCTC	0.647												
SMC1B	27127	broad.mit.edu	37	22	45758880	45758880	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:45758880C>T	uc003bgc.2	-	16	2499	c.2447G>A	c.(2446-2448)CGG>CAG	p.R816Q	SMC1B_uc003bgd.2_Missense_Mutation_p.R816Q	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	816	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AACATTAAGCCGAGTTTTTTG	0.294												
CELSR1	9620	broad.mit.edu	37	22	46768944	46768944	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:46768944G>A	uc003bhw.1	-	25	7595	c.7595C>T	c.(7594-7596)ACA>ATA	p.T2532I	CELSR1_uc011arc.1_Missense_Mutation_p.T853I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2532	Helical; Name=3; (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		GGCAACCACTGTGCACAGAAA	0.622												
MOV10L1	54456	broad.mit.edu	37	22	50552165	50552165	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:50552165C>T	uc003bjj.2	+	6	915	c.832C>T	c.(832-834)CAT>TAT	p.H278Y	MOV10L1_uc003bjk.3_Missense_Mutation_p.H278Y|MOV10L1_uc011arp.1_Missense_Mutation_p.H258Y|MOV10L1_uc011arq.1_Missense_Mutation_p.H39Y|MOV10L1_uc010hao.1_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	278					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACAGGTGACGCATTTTGGAAC	0.408												
TRABD	80305	broad.mit.edu	37	22	50636423	50636423	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:50636423C>G	uc003bjq.1	+	8	929	c.843C>G	c.(841-843)GAC>GAG	p.D281E	TRABD_uc003bjr.1_Missense_Mutation_p.D165E|TRABD_uc003bjs.1_Missense_Mutation_p.D281E|TRABD_uc003bjt.1_Missense_Mutation_p.D281E|TRABD_uc003bju.1_Missense_Mutation_p.D281E|TRABD_uc003bjv.2_Missense_Mutation_p.D281E|TRABD_uc003bjw.1_Missense_Mutation_p.D281E|SELO_uc011arr.1_5'Flank	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	281											0		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GGGCCTCTGACGGTGACGGCC	0.701												
TUBGCP6	85378	broad.mit.edu	37	22	50658094	50658094	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:50658094G>T	uc003bkb.1	-	18	4806	c.4294C>A	c.(4294-4296)CCG>ACG	p.P1432T	TUBGCP6_uc003bka.1_Missense_Mutation_p.P519T|TUBGCP6_uc010har.1_Missense_Mutation_p.P1424T|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1432					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAACTGTCCGGGTACCGCTCC	0.672												
ITPR1	3708	broad.mit.edu	37	3	4859858	4859858	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:4859858G>A	uc003bqa.2	+	57	8164	c.7816G>A	c.(7816-7818)GTC>ATC	p.V2606I	ITPR1_uc010hca.1_Missense_Mutation_p.V2591I|ITPR1_uc011asu.1_Missense_Mutation_p.V617I|ITPR1_uc003bqc.2_Missense_Mutation_p.V1576I|ITPR1_uc010hcc.1_Missense_Mutation_p.V374I|ITPR1_uc011asv.1_Missense_Mutation_p.V330I	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2654	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGCTTCATCGTCCTGGTGAA	0.468												
CAMK1	8536	broad.mit.edu	37	3	9803194	9803194	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:9803194A>G	uc003bst.2	-	7	761	c.583T>C	c.(583-585)TAC>CAC	p.Y195H	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	195	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GCCTTGCTGTAGGGCTTCTGG	0.587												
IL17RC	84818	broad.mit.edu	37	3	9969997	9969997	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:9969997G>A	uc003bua.2	+	11	1335	c.1099G>A	c.(1099-1101)GCA>ACA	p.A367T	CIDEC_uc003bto.2_Intron|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.A271T|IL17RC_uc003btz.2_Missense_Mutation_p.A296T|IL17RC_uc011atp.1_Missense_Mutation_p.A152T|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.A281T|IL17RC_uc010hct.2_Missense_Mutation_p.A296T|IL17RC_uc010hcu.2_Missense_Mutation_p.A296T|IL17RC_uc010hcv.2_Missense_Mutation_p.A281T|IL17RC_uc011atq.1_Missense_Mutation_p.A281T|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	367	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						AGACCCCCGCGCACACCAGAA	0.687												
RAF1	5894	broad.mit.edu	37	3	12633207	12633207	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:12633207C>A	uc003bxf.3	-	11	1608	c.1193G>T	c.(1192-1194)CGC>CTC	p.R398L	RAF1_uc011aut.1_Missense_Mutation_p.R183L|RAF1_uc011auu.1_Missense_Mutation_p.R316L	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	398	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	TTCTACTCACCGCAGAACAGC	0.547			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
IQSEC1	9922	broad.mit.edu	37	3	12977201	12977201	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:12977201C>A	uc003bxt.2	-	3	1366	c.1357G>T	c.(1357-1359)GGC>TGC	p.G453C	IQSEC1_uc003bxu.3_Missense_Mutation_p.G331C|IQSEC1_uc011auw.1_Missense_Mutation_p.G439C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	453					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TTGGCTGAGCCATTGATGGCC	0.637												
FBLN2	2199	broad.mit.edu	37	3	13612535	13612535	+	Missense_Mutation	SNP	G	G	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:13612535G>C	uc011avb.1	+	2	805	c.680G>C	c.(679-681)GGC>GCC	p.G227A	FBLN2_uc011auz.1_Missense_Mutation_p.G253A|FBLN2_uc011ava.1_Missense_Mutation_p.G227A|FBLN2_uc011avc.1_Missense_Mutation_p.G227A	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	227	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGCGCAGGGGGCCCCCCAGCT	0.701												
NR2C2	7182	broad.mit.edu	37	3	15057748	15057748	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:15057748C>T	uc003bzj.3	+	4	580	c.363C>T	c.(361-363)GGC>GGT	p.G121G	NR2C2_uc003bzi.2_Silent_p.G140G	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	121	Nuclear receptor.|NR C4-type.				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						TGGTCTGTGGCGACAAAGCCT	0.507												
HACL1	26061	broad.mit.edu	37	3	15637913	15637913	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:15637913C>T	uc003caf.2	-	3	365	c.205G>A	c.(205-207)GCG>ACG	p.A69T	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.A69T|HACL1_uc011avt.1_Missense_Mutation_p.A69T|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.A69T|HACL1_uc010hep.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	69					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						TATCCAATCGCGGAGGCAGCA	0.363												
SGOL1	151648	broad.mit.edu	37	3	20215770	20215770	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:20215770T>C	uc003cbs.2	-	6	1440	c.1253A>G	c.(1252-1254)GAG>GGG	p.E418G	SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.E418G|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.E418G|SGOL1_uc003cca.2_Missense_Mutation_p.E418G|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	418					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						CTTAGAACCCTCCGTCTCTTT	0.393												
DCLK3	85443	broad.mit.edu	37	3	36759617	36759617	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:36759617A>G	uc003cgi.2	-	4	2128	c.1637T>C	c.(1636-1638)CTG>CCG	p.L546P		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	546	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						GCCACACAGCAGGATATAGAG	0.577												
TRANK1	9881	broad.mit.edu	37	3	36887887	36887887	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:36887887G>A	uc003cgj.2	-	7	3563	c.3261C>T	c.(3259-3261)AAC>AAT	p.N1087N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1637					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCAGCTCTCCGTTGAGGAGCT	0.448												
TGM4	7047	broad.mit.edu	37	3	44943120	44943120	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:44943120G>T	uc003coc.3	+	7	835	c.762G>T	c.(760-762)CAG>CAT	p.Q254H	TGM4_uc003cob.2_RNA	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	254					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CGATCCTGCAGCAGTACTACA	0.582												
CDCP1	64866	broad.mit.edu	37	3	45132848	45132848	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:45132848C>T	uc003com.2	-	7	1945	c.1810G>A	c.(1810-1812)GCA>ACA	p.A604T		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	604	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATCATGAATGCGCGCCCTGTC	0.607												
SLC6A20	54716	broad.mit.edu	37	3	45817323	45817323	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:45817323G>A	uc011bai.1	-	4	636	c.512C>T	c.(511-513)GCG>GTG	p.A171V	SLC6A20_uc011baj.1_Missense_Mutation_p.A171V	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	171	Helical; Name=4; (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GAGGCACAGCGCCGGCTCCCA	0.627												
CXCR6	10663	broad.mit.edu	37	3	45988802	45988802	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:45988802G>A	uc003cpc.1	+	2	910	c.829G>A	c.(829-831)GCA>ACA	p.A277T	FYCO1_uc003cpb.3_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.A277T	NM_006564	NP_006555	O00574	CXCR6_HUMAN	G protein-coupled receptor TYMSTR	277	Helical; Name=7; (Potential).				viral genome replication	integral to plasma membrane	coreceptor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGAGGCCATCGCATACCTGAG	0.507												
NBEAL2	23218	broad.mit.edu	37	3	47030391	47030391	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47030391C>T	uc003cqp.2	+	3	379	c.200C>T	c.(199-201)GCC>GTC	p.A67V	NBEAL2_uc003cqq.1_Missense_Mutation_p.A60V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	67							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATGTGCTGGCCGAACAGCTG	0.602												
SETD2	29072	broad.mit.edu	37	3	47098794	47098794	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47098794C>T	uc003cqs.2	-	15	6533	c.6480G>A	c.(6478-6480)CCG>CCA	p.P2160P	SETD2_uc003cqv.2_Silent_p.P2227P|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2160	Pro-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGGGATGATGCGGGGCATTAT	0.537			N|F|S|Mis		clear cell renal carcinoma							
PTPN23	25930	broad.mit.edu	37	3	47454478	47454478	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47454478C>G	uc003crf.1	+	25	4810	c.4714C>G	c.(4714-4716)CCC>GCC	p.P1572A	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.P1442A|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1572	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCTCGGGGCCCCCCTCCTC	0.657												
SCAP	22937	broad.mit.edu	37	3	47459936	47459936	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47459936G>A	uc003crh.1	-	15	2461	c.2206C>T	c.(2206-2208)CGC>TGC	p.R736C	SCAP_uc011baz.1_Missense_Mutation_p.R481C|SCAP_uc003crg.2_Missense_Mutation_p.R344C	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	736	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGTAGTTGCGCGGGCATAGC	0.726												
COL7A1	1294	broad.mit.edu	37	3	48606837	48606837	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48606837G>A	uc003ctz.2	-	102	7658	c.7657C>T	c.(7657-7659)CGG>TGG	p.R2553W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2553	Triple-helical region.|Cell attachment site (Potential).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGTCTCCCCGAGGTCCTTTG	0.602												
CELSR3	1951	broad.mit.edu	37	3	48697513	48697513	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48697513T>C	uc003cul.2	-	1	2836	c.2555A>G	c.(2554-2556)AAC>AGC	p.N852S	CELSR3_uc003cuf.1_Missense_Mutation_p.N922S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	852	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGATGAGTGTTGGCATCTGT	0.343												
CELSR3	1951	broad.mit.edu	37	3	48699725	48699725	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48699725C>T	uc003cul.2	-	1	624	c.343G>A	c.(343-345)GTC>ATC	p.V115I	CELSR3_uc003cuf.1_Missense_Mutation_p.V185I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	115	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AATGGCTGGACGCCGTGTTCA	0.632												
NCKIPSD	51517	broad.mit.edu	37	3	48717524	48717524	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48717524G>A	uc003cun.2	-	6	1325	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	NCKIPSD_uc003cum.2_Missense_Mutation_p.R404C	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	411					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTAGCAGCGGATGACACCC	0.602												
PRKAR2A	5576	broad.mit.edu	37	3	48789613	48789613	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48789613G>T	uc010hki.1	-	10	1318	c.1077C>A	c.(1075-1077)TGC>TGA	p.C359*	PRKAR2A_uc003cux.1_Nonsense_Mutation_p.C359*|PRKAR2A_uc003cuy.1_Nonsense_Mutation_p.C337*	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	359	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		TCTTACCTAAGCATTTGACAT	0.418												
IMPDH2	3615	broad.mit.edu	37	3	49064427	49064427	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49064427C>A	uc003cvt.2	-	6	677	c.585G>T	c.(583-585)AAG>AAT	p.K195N		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	195	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CATTTGCCTCCTTCAGTGTGA	0.522												
AMT	275	broad.mit.edu	37	3	49457752	49457752	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49457752G>A	uc003cww.2	-	4	492	c.363C>T	c.(361-363)AAC>AAT	p.N121N	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Silent_p.N121N|AMT_uc011bco.1_Intron|AMT_uc003cwy.2_Silent_p.N73N|AMT_uc011bcp.1_Silent_p.N24N|AMT_uc011bcq.1_Silent_p.N65N	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	121					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTCCAGCCTCGTTGGTAAACA	0.552												
DAG1	1605	broad.mit.edu	37	3	49568441	49568441	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49568441C>T	uc003cxc.3	+	3	915	c.497C>T	c.(496-498)TCG>TTG	p.S166L		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	166	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTGCAGTCGGTGAGGACA	0.597												
BSN	8927	broad.mit.edu	37	3	49699943	49699943	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49699943T>C	uc003cxe.3	+	6	10779	c.10665T>C	c.(10663-10665)CGT>CGC	p.R3555R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3555					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CATATAAGCGTGAGGAGGGCT	0.597												
AMIGO3	386724	broad.mit.edu	37	3	49756465	49756465	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49756465A>G	uc003cxj.2	-	1	774	c.434T>C	c.(433-435)TTG>TCG	p.L145S	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	145	Extracellular (Potential).|LRR 4.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAAGTGCACCAAGCGGTTATT	0.622											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GNAT1	2779	broad.mit.edu	37	3	50231210	50231210	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:50231210G>A	uc003cym.2	+	5	590	c.474G>A	c.(472-474)CTG>CTA	p.L158L	GNAT1_uc003cyl.2_Silent_p.L158L	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	158					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGAGCGCCTGGTAACCCCGG	0.532												
CYB561D2	11068	broad.mit.edu	37	3	50388931	50388931	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:50388931G>A	uc003dak.2	+	1	643	c.67G>A	c.(67-69)GCC>ACC	p.A23T	NPRL2_uc003dai.1_5'Flank|NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dal.2_Missense_Mutation_p.A23T|CYB561D2_uc003dam.2_Missense_Mutation_p.A23T	NM_007022	NP_008953	O14569	C56D2_HUMAN	cytochrome b-561 domain containing 2	23	Helical; (Potential).|Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGCGCTGCCGCCCACCTTGT	0.577												
MAPKAPK3	7867	broad.mit.edu	37	3	50685366	50685366	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:50685366C>T	uc003day.1	+	13	1634	c.1038C>T	c.(1036-1038)TAC>TAT	p.Y346Y	MAPKAPK3_uc003daz.1_Silent_p.Y346Y|MAPKAPK3_uc003dba.1_Silent_p.Y346Y|MAPKAPK3_uc010hlr.1_Silent_p.Y346Y	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	346					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGGTAGACTACGACCAGGTGA	0.552												
ACY1	95	broad.mit.edu	37	3	52021073	52021073	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52021073A>C	uc003dcp.2	+	9	714	c.653A>C	c.(652-654)AAG>ACG	p.K218T	ACY1_uc011bea.1_Missense_Mutation_p.K308T|ACY1_uc011beb.1_Missense_Mutation_p.K218T|ACY1_uc003dcq.2_Missense_Mutation_p.K218T	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	218					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GCAGCAGAGAAGCTGGTACGT	0.582												
ALAS1	211	broad.mit.edu	37	3	52237967	52237967	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52237967C>T	uc003dcy.1	+	5	853	c.516C>T	c.(514-516)GAC>GAT	p.D172D	ALAS1_uc003dcz.1_Silent_p.D172D|ALAS1_uc011bec.1_Silent_p.D189D	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	172					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACTTCCAGGACATCATGCAAA	0.438												
NISCH	11188	broad.mit.edu	37	3	52524132	52524132	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52524132G>A	uc011beg.1	+	19	3570	c.3498G>A	c.(3496-3498)GTG>GTA	p.V1166V	NISCH_uc003ded.3_Silent_p.V1166V|NISCH_uc003dee.3_Silent_p.V655V|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1166					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGTCCTCGGTGGTGTTCTACC	0.612												
GNL3	26354	broad.mit.edu	37	3	52728093	52728093	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52728093A>G	uc003dfd.2	+	14	1714	c.1541A>G	c.(1540-1542)GAG>GGG	p.E514G	GNL3_uc003dfe.2_Missense_Mutation_p.E502G|GNL3_uc003dff.2_Missense_Mutation_p.E502G	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	514	Acidic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAGACAGGGGAGGCACTGTCT	0.438												
SFMBT1	51460	broad.mit.edu	37	3	52962301	52962301	+	Silent	SNP	G	G	A	rs112153185	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52962301G>A	uc003dgf.2	-	10	1523	c.954C>T	c.(952-954)CAC>CAT	p.H318H	SFMBT1_uc010hmr.2_Silent_p.H265H|SFMBT1_uc003dgg.2_Silent_p.H318H|SFMBT1_uc003dgh.2_Silent_p.H318H	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	318	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		ATCGCCGTGCGTGGTTCTCAG	0.488												
PRKCD	5580	broad.mit.edu	37	3	53223077	53223077	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:53223077C>A	uc003dgl.2	+	17	1911	c.1558C>A	c.(1558-1560)CTA>ATA	p.L520I	PRKCD_uc003dgm.2_Missense_Mutation_p.L520I	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	520	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CCGCCAGATCCTACAGGGCCT	0.577												
CCDC66	285331	broad.mit.edu	37	3	56600714	56600714	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:56600714G>A	uc003dhz.2	+	5	724	c.637G>A	c.(637-639)GTC>ATC	p.V213I	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.V179I|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.V213I	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	213										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GGTTTCATCTGTCCCAGCTGA	0.333												
C3orf63	23272	broad.mit.edu	37	3	56658877	56658877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:56658877G>A	uc003did.3	-	21	4215	c.4114C>T	c.(4114-4116)CGA>TGA	p.R1372*	C3orf63_uc003dib.3_Nonsense_Mutation_p.R491*|C3orf63_uc003dic.3_Nonsense_Mutation_p.R996*|C3orf63_uc003die.3_Nonsense_Mutation_p.R1433*	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1433										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		ACTATGTGTCGTTGCTGTATG	0.388												
IL17RD	54756	broad.mit.edu	37	3	57132009	57132009	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:57132009G>A	uc003dil.2	-	12	1811	c.1722C>T	c.(1720-1722)TAC>TAT	p.Y574Y	IL17RD_uc003dik.2_Silent_p.Y550Y|IL17RD_uc010hna.2_Silent_p.Y430Y|IL17RD_uc011bex.1_Silent_p.Y430Y	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	574	Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGGCTCCCGGTAGCGCAGTG	0.517												
CADPS	8618	broad.mit.edu	37	3	62518693	62518693	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:62518693T>C	uc003dll.2	-	13	2504	c.2144A>G	c.(2143-2145)TAT>TGT	p.Y715C	CADPS_uc003dlk.1_Missense_Mutation_p.Y219C|CADPS_uc003dlm.2_Missense_Mutation_p.Y715C|CADPS_uc003dln.2_Missense_Mutation_p.Y698C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	715					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGGGCGCAATACTCGTCTAG	0.498												
FOXP1	27086	broad.mit.edu	37	3	71096238	71096238	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:71096238C>A	uc003dol.2	-	6	842	c.519G>T	c.(517-519)CAG>CAT	p.Q173H	FOXP1_uc003dom.2_Missense_Mutation_p.Q97H|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q173H|FOXP1_uc003dop.2_Missense_Mutation_p.Q173H|FOXP1_uc003doq.1_Missense_Mutation_p.Q172H|FOXP1_uc003doi.2_Missense_Mutation_p.Q73H|FOXP1_uc003doj.2_Missense_Mutation_p.Q73H|FOXP1_uc003dok.2_Translation_Start_Site	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	173	Gln-rich.			Q -> R (in Ref. 3; BAB55005).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGTAGCCACCTGCTGTTGCT	0.468			T	PAX5	ALL							
COL8A1	1295	broad.mit.edu	37	3	99514656	99514656	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:99514656A>G	uc003dtg.1	+	5	2156	c.1911A>G	c.(1909-1911)AAA>AAG	p.K637K	COL8A1_uc003dth.1_Silent_p.K637K|COL8A1_uc003dti.1_Silent_p.K638K	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	637	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						AGTTTAACAAACTGCTGTATA	0.537												
FAM55C	91775	broad.mit.edu	37	3	101540395	101540395	+	Missense_Mutation	SNP	C	C	T	rs139135706	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:101540395C>T	uc003dvn.2	+	8	1914	c.1277C>T	c.(1276-1278)GCG>GTG	p.A426V	FAM55C_uc010hpn.2_Missense_Mutation_p.A426V	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	426						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						CATTATGTGGCGAATGAGCTG	0.522												
MYH15	22989	broad.mit.edu	37	3	108163557	108163557	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:108163557C>A	uc003dxa.1	-	23	2702	c.2645G>T	c.(2644-2646)AGG>ATG	p.R882M		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	882	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CAGTTCCTCCCTCTGAAACTC	0.423												
DZIP3	9666	broad.mit.edu	37	3	108363261	108363261	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:108363261G>A	uc003dxd.2	+	14	1814	c.1392G>A	c.(1390-1392)CAG>CAA	p.Q464Q	DZIP3_uc003dxf.1_Silent_p.Q464Q|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.Q464Q|DZIP3_uc003dxg.1_Silent_p.Q187Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	464					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AATCCAAACAGTTTGACTTAT	0.423												
DPPA2	151871	broad.mit.edu	37	3	109028172	109028172	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:109028172G>T	uc003dxo.2	-	4	434	c.187C>A	c.(187-189)CTA>ATA	p.L63I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	63						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						GTTTGAAGTAGATGACCTAAG	0.318												
ZBTB20	26137	broad.mit.edu	37	3	114069728	114069728	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:114069728C>T	uc003ebi.2	-	4	1377	c.1197G>A	c.(1195-1197)GCG>GCA	p.A399A	ZBTB20_uc003ebj.2_Silent_p.A326A|ZBTB20_uc010hqp.2_Silent_p.A326A|ZBTB20_uc003ebk.2_Silent_p.A326A|ZBTB20_uc003ebl.2_Silent_p.A326A|ZBTB20_uc003ebm.2_Silent_p.A326A|ZBTB20_uc003ebn.2_Silent_p.A326A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCTGTCCCGCGCCGCCCCAG	0.647												
C3orf1	51300	broad.mit.edu	37	3	119236144	119236144	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:119236144A>G	uc003ecn.2	+	6	902	c.689A>G	c.(688-690)GAG>GGG	p.E230G	C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	hypothetical protein LOC51300	230						integral to membrane|mitochondrial inner membrane	protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.186)		GCACTCCATGAGCTAAAACTG	0.468												
POLQ	10721	broad.mit.edu	37	3	121187159	121187159	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:121187159T>C	uc003eee.3	-	23	6967	c.6838A>G	c.(6838-6840)ATG>GTG	p.M2280V	POLQ_uc003eed.2_Missense_Mutation_p.M1452V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2280					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TACCTGCCCATGGGAAGTAGG	0.358								DNA_polymerases_(catalytic_subunits)				
GOLGB1	2804	broad.mit.edu	37	3	121416064	121416064	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:121416064C>T	uc003eei.3	-	13	3417	c.3291G>A	c.(3289-3291)ATG>ATA	p.M1097I	GOLGB1_uc010hrc.2_Missense_Mutation_p.M1102I|GOLGB1_uc003eej.3_Missense_Mutation_p.M1063I|GOLGB1_uc011bjm.1_Missense_Mutation_p.M983I|GOLGB1_uc010hrd.1_Missense_Mutation_p.M1061I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1097	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AGGTCTGATTCATCTGTTTGA	0.393												
SLC15A2	6565	broad.mit.edu	37	3	121641106	121641106	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:121641106C>T	uc003eep.2	+	8	890	c.737C>T	c.(736-738)CCC>CTC	p.P246L	SLC15A2_uc011bjn.1_Missense_Mutation_p.P215L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	246					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AATAAACCACCCCCTGAAGGA	0.323												
MYLK	4638	broad.mit.edu	37	3	123333139	123333139	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:123333139C>T	uc003ego.2	-	34	5840	c.5558G>A	c.(5557-5559)CGC>CAC	p.R1853H	uc003egk.2_Intron|MYLK_uc003egl.2_Missense_Mutation_p.R93H|MYLK_uc003egm.2_Missense_Mutation_p.R92H|MYLK_uc010hrr.2_Missense_Mutation_p.R288H|MYLK_uc011bjv.1_Missense_Mutation_p.R653H|MYLK_uc011bjw.1_Missense_Mutation_p.R1852H|MYLK_uc003egp.2_Missense_Mutation_p.R1784H|MYLK_uc003egq.2_Missense_Mutation_p.R1802H|MYLK_uc003egr.2_Missense_Mutation_p.R1733H|MYLK_uc003egs.2_Missense_Mutation_p.R1677H	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1853	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGAAGTGGCGGGACTCCCT	0.498												
KALRN	8997	broad.mit.edu	37	3	124201667	124201667	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:124201667C>T	uc003ehg.2	+	28	4325	c.4198C>T	c.(4198-4200)CGG>TGG	p.R1400W	KALRN_uc010hrv.1_Missense_Mutation_p.R1391W|KALRN_uc003ehf.1_Missense_Mutation_p.R1400W|KALRN_uc011bjy.1_Missense_Mutation_p.R1391W|KALRN_uc003ehh.1_Missense_Mutation_p.R746W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1400	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GATACAACAGCGGCATGGTCT	0.507												
ITGB5	3693	broad.mit.edu	37	3	124485176	124485176	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:124485176C>A	uc003eho.2	-	13	2331	c.2034G>T	c.(2032-2034)GAG>GAT	p.E678D	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	678	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		ATAGCACAGCCTCCTGGTCAT	0.572												
HEG1	57493	broad.mit.edu	37	3	124731613	124731613	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:124731613T>C	uc003ehs.3	-	6	2878	c.2810A>G	c.(2809-2811)TAC>TGC	p.Y937C	HEG1_uc011bke.1_Missense_Mutation_p.Y1037C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	937	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						AGCTGGGCTGTACTCTGCTGT	0.502												
SNX4	8723	broad.mit.edu	37	3	125216990	125216990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:125216990C>T	uc003eib.2	-	3	354	c.312G>A	c.(310-312)TGG>TGA	p.W104*	SNX4_uc011bkf.1_5'UTR	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	104	PX.				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TATATCGCCGCCATAGTGAGT	0.378												
KLF15	28999	broad.mit.edu	37	3	126062715	126062715	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:126062715G>A	uc011bkk.1	-	3	1288	c.1106C>T	c.(1105-1107)TCG>TTG	p.S369L		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	369	C2H2-type 2.					nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CCTGTGCCGCGACAGCTCGTC	0.667												
RPN1	6184	broad.mit.edu	37	3	128339335	128339335	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:128339335C>T	uc003ekr.1	-	10	1819	c.1743G>A	c.(1741-1743)ACG>ACA	p.T581T	RPN1_uc011bkq.1_Silent_p.T409T	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	581	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		TCTCAATGTACGTGTCTTTCT	0.577			T	EVI1	AML							
IFT122	55764	broad.mit.edu	37	3	129239022	129239022	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:129239022T>G	uc003emm.2	+	30	3846	c.3640T>G	c.(3640-3642)TTC>GTC	p.F1214V	IFT122_uc003eml.2_Missense_Mutation_p.F1265V|IFT122_uc003emn.2_Missense_Mutation_p.F1155V|IFT122_uc003emo.2_Missense_Mutation_p.F1104V|IFT122_uc003emp.2_Missense_Mutation_p.F1064V|IFT122_uc010htc.2_Missense_Mutation_p.F1207V|IFT122_uc011bky.1_Missense_Mutation_p.F1005V|IFT122_uc003emq.2_Missense_Mutation_p.F1054V|IFT122_uc003emr.2_Missense_Mutation_p.F967V|IFT122_uc011bla.1_Missense_Mutation_p.F988V|IFT122_uc010hte.2_Missense_Mutation_p.F540V|IFT122_uc003ems.2_Missense_Mutation_p.F596V	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	1214					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CCCTTAGATGTTCCATTCTGA	0.602												
PLXND1	23129	broad.mit.edu	37	3	129282078	129282078	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:129282078C>T	uc003emx.2	-	26	4627	c.4527G>A	c.(4525-4527)ACG>ACA	p.T1509T	PLXND1_uc011blb.1_Silent_p.T177T	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1509	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GCTCCCCCACCGTCTCCTGAG	0.627												
NEK11	79858	broad.mit.edu	37	3	130992390	130992390	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:130992390G>A	uc003eny.2	+	17	2016	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	NEK11_uc003eoa.2_Intron|NEK11_uc003enz.2_Missense_Mutation_p.A382T|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.A380T|NEK11_uc011bll.1_Missense_Mutation_p.A459T	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	564					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						CAGTGTGATGGCCAGGACCAA	0.488												
SLCO2A1	6578	broad.mit.edu	37	3	133698394	133698394	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:133698394G>A	uc003eqa.3	-	2	439	c.165C>T	c.(163-165)AGC>AGT	p.S55S	SLCO2A1_uc003eqb.3_Silent_p.S55S|SLCO2A1_uc011blv.1_Silent_p.S55S|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	55	Extracellular (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TGGTGGTGAGGCTGCTCTTGA	0.562												
EPHB1	2047	broad.mit.edu	37	3	134884866	134884866	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:134884866G>A	uc003eqt.2	+	8	1862	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	EPHB1_uc003equ.2_Missense_Mutation_p.A109T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	548	Helical; (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CTCGGCAGCGGCCGGGGTCGT	0.567												
MSL2	55167	broad.mit.edu	37	3	135871374	135871374	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:135871374G>A	uc003eqx.1	-	2	1082	c.349C>T	c.(349-351)CGG>TGG	p.R117W	MSL2_uc011bmb.1_Missense_Mutation_p.R43W	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	117					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						ATTATATCCCGTGCCAGTGTA	0.388												
ZIC1	7545	broad.mit.edu	37	3	147127972	147127972	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:147127972G>A	uc003ewe.2	+	1	792	c.73G>A	c.(73-75)GCG>ACG	p.A25T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	25					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCACCACTCCGCGGGCGACGT	0.711												
ZIC1	7545	broad.mit.edu	37	3	147128612	147128612	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:147128612C>A	uc003ewe.2	+	1	1432	c.713C>A	c.(712-714)CCC>CAC	p.P238H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	238	C2H2-type 1; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CTGGCCAACCCCAAAAAGTCG	0.592												
TIPARP	25976	broad.mit.edu	37	3	156422868	156422868	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:156422868A>G	uc003fav.2	+	6	2170	c.1922A>G	c.(1921-1923)TAC>TGC	p.Y641C	TIPARP_uc003faw.2_Missense_Mutation_p.Y641C	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	641	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACCAGAGTTACCCTTATTTT	0.204												
IFT80	57560	broad.mit.edu	37	3	160018781	160018781	+	Missense_Mutation	SNP	C	C	T	rs147955112		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:160018781C>T	uc011boy.1	-	12	1638	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.R265H|IFT80_uc003fdd.1_Missense_Mutation_p.R85H|IFT80_uc003fde.1_Missense_Mutation_p.R265H	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	402						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAATAAAGCGCCCTTCATA	0.313												
PHC3	80012	broad.mit.edu	37	3	169896574	169896574	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:169896574C>T	uc010hws.1	-	2	195	c.131G>A	c.(130-132)CGA>CAA	p.R44Q	PHC3_uc003fgl.2_Missense_Mutation_p.R56Q|PHC3_uc011bpq.1_Missense_Mutation_p.R56Q|PHC3_uc011bpr.1_Missense_Mutation_p.R56Q|PHC3_uc003fgm.2_Missense_Mutation_p.R56Q|PHC3_uc003fgo.1_Missense_Mutation_p.R44Q|PHC3_uc003fgp.3_Missense_Mutation_p.R56Q|PHC3_uc003fgq.3_Missense_Mutation_p.R56Q|PHC3_uc003fgr.1_RNA	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	44					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TACAGCATGTCGGTCTGAACC	0.363												
SLC7A14	57709	broad.mit.edu	37	3	170201192	170201192	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:170201192C>T	uc003fgz.2	-	6	1342	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	342	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTCCTGCAACCGACCCAATGG	0.527											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FNDC3B	64778	broad.mit.edu	37	3	171965513	171965513	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:171965513C>T	uc003fhy.2	+	5	627	c.455C>T	c.(454-456)CCG>CTG	p.P152L	FNDC3B_uc003fhz.3_Missense_Mutation_p.P152L|FNDC3B_uc003fia.2_Missense_Mutation_p.P83L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	152						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGAGATATGCCGCCTCAGTTT	0.483												
PIK3CA	5290	broad.mit.edu	37	3	178916891	178916891	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:178916891G>A	uc003fjk.2	+	2	435	c.278G>A	c.(277-279)CGG>CAG	p.R93Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	93	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R93W(5)|p.R93Q(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGTGACCTTCGGCTTTTTCAA	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
MFN1	55669	broad.mit.edu	37	3	179076708	179076708	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:179076708A>G	uc003fjs.2	+	4	455	c.329A>G	c.(328-330)AAT>AGT	p.N110S	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.N138S	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	110	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATATAACCAATTGCTTCCTA	0.383												
LAMP3	27074	broad.mit.edu	37	3	182870290	182870290	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:182870290A>C	uc003flh.3	-	3	985	c.761T>G	c.(760-762)GTT>GGT	p.V254G		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	254	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTGAAAAAACCTAAATCAA	0.458												
MCF2L2	23101	broad.mit.edu	37	3	183041028	183041028	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:183041028G>T	uc003fli.1	-	6	688	c.598C>A	c.(598-600)CGC>AGC	p.R200S	MCF2L2_uc003flj.1_Missense_Mutation_p.R200S|MCF2L2_uc003flp.1_Missense_Mutation_p.R235S	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	200					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCACAGTGCGGTGATTTACC	0.512												
ATP13A4	84239	broad.mit.edu	37	3	193220287	193220287	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:193220287G>T	uc003ftd.2	-	3	484	c.376C>A	c.(376-378)CTA>ATA	p.L126I	ATP13A4_uc003fte.1_Missense_Mutation_p.L126I|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	126	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTACCTTTAGGTCTGGCTTT	0.413												
MUC20	200958	broad.mit.edu	37	3	195452850	195452850	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:195452850C>T	uc010hzo.2	+	3	989	c.863C>T	c.(862-864)CCA>CTA	p.P288L	MUC20_uc010hzp.2_Missense_Mutation_p.P253L|MUC20_uc011bte.1_RNA	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	459	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCGATCCACCAGCTCTGCCT	0.577												
MUC4	4585	broad.mit.edu	37	3	195495991	195495991	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:195495991G>A	uc011bto.1	-	8	13507	c.13047C>T	c.(13045-13047)GAC>GAT	p.D4349D	MUC4_uc003fuz.2_Missense_Mutation_p.T105M|MUC4_uc003fva.2_Translation_Start_Site|MUC4_uc003fvb.2_Missense_Mutation_p.T23M|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T23M|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Translation_Start_Site|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.D41D|MUC4_uc011bti.1_Silent_p.D41D|MUC4_uc011btj.1_Silent_p.D218D|MUC4_uc011btk.1_Translation_Start_Site|MUC4_uc011btl.1_Translation_Start_Site|MUC4_uc011btm.1_Silent_p.D166D|MUC4_uc011btn.1_Translation_Start_Site|MUC4_uc003fvo.2_Silent_p.D241D|MUC4_uc003fvp.2_Silent_p.D190D|MUC4_uc010hzu.1_Silent_p.D1089D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1234	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGCTCCCGTCCGTGGAGA	0.612												
TMEM175	84286	broad.mit.edu	37	4	951785	951785	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:951785G>A	uc003gbq.2	+	11	1114	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	TMEM175_uc003gbr.2_Missense_Mutation_p.R257Q|TMEM175_uc003gbu.2_Missense_Mutation_p.R257Q|TMEM175_uc003gbs.2_Missense_Mutation_p.R222Q|TMEM175_uc003gbt.2_Missense_Mutation_p.R222Q|TMEM175_uc003gbv.2_Missense_Mutation_p.R222Q|TMEM175_uc010ibm.2_Missense_Mutation_p.R155Q	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	339						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AAGGCCACGCGGGCCATGGGG	0.682												
FAM193A	8603	broad.mit.edu	37	4	2648497	2648497	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:2648497C>T	uc010icl.2	+	5	727	c.376C>T	c.(376-378)CGC>TGC	p.R126C	FAM193A_uc010ick.2_Missense_Mutation_p.R326C|FAM193A_uc003gfd.2_Missense_Mutation_p.R126C|FAM193A_uc011bvm.1_Missense_Mutation_p.R126C|FAM193A_uc011bvn.1_Missense_Mutation_p.R126C|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	126	Potential.									ovary(3)	3						GGAGGAGCTGCGCAGAGTCGC	0.622												
LYAR	55646	broad.mit.edu	37	4	4283517	4283517	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:4283517C>A	uc011bvy.1	-	4	373	c.230G>T	c.(229-231)TGG>TTG	p.W77L	LYAR_uc011bvx.1_5'Flank|LYAR_uc003ght.2_Missense_Mutation_p.W77L	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	77						nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACCTGAATCCACGCCTGCTG	0.448												
D4S234E	27065	broad.mit.edu	37	4	4411342	4411342	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:4411342G>A	uc011bvz.1	+	7	1570	c.289G>A	c.(289-291)GTC>ATC	p.V97I	D4S234E_uc011bwa.1_Missense_Mutation_p.V58I|D4S234E_uc003ghz.2_Missense_Mutation_p.V97I|D4S234E_uc003gia.2_Missense_Mutation_p.V97I|D4S234E_uc003gib.2_Missense_Mutation_p.V97I	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	97	Helical; Signal-anchor for type II membrane protein; (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CCTCACCTGCGTCGTCTTCCT	0.612												
CRMP1	1400	broad.mit.edu	37	4	5838617	5838617	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:5838617T>C	uc003gip.2	-	11	1086	c.985A>G	c.(985-987)ACA>GCA	p.T329A	CRMP1_uc003gin.1_Missense_Mutation_p.T241A|CRMP1_uc003giq.2_Missense_Mutation_p.T329A|CRMP1_uc003gir.2_Missense_Mutation_p.T324A|CRMP1_uc003gis.2_Missense_Mutation_p.T443A	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	329					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCGCTGCCTGTGACCTGCAAG	0.547												
SORCS2	57537	broad.mit.edu	37	4	7194811	7194811	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:7194811G>A	uc003gkb.3	+	1	438	c.438G>A	c.(436-438)ACG>ACA	p.T146T		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	146	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGGACGCGACGCACAACCAGG	0.726												
GPR125	166647	broad.mit.edu	37	4	22425931	22425931	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:22425931A>G	uc003gqm.1	-	11	1753	c.1488T>C	c.(1486-1488)GCT>GCC	p.A496A	GPR125_uc010ieo.1_Silent_p.A370A|GPR125_uc003gqn.1_Silent_p.A270A|GPR125_uc003gqo.2_Silent_p.A496A	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	496	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CACGTTCATCAGCCAACATGA	0.488												
PPARGC1A	10891	broad.mit.edu	37	4	23815680	23815680	+	Missense_Mutation	SNP	C	C	T	rs143142906		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:23815680C>T	uc003gqs.2	-	8	1546	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	476					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TCTGCTTCGTCGTCAAAAACA	0.473												
ARAP2	116984	broad.mit.edu	37	4	36121278	36121278	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:36121278G>A	uc003gsq.1	-	24	4295	c.3957C>T	c.(3955-3957)GAC>GAT	p.D1319D		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1319					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCACTTGGGTGTCTTTCCACT	0.294												
KLF3	51274	broad.mit.edu	37	4	38691351	38691351	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38691351A>G	uc003gth.3	+	4	878	c.546A>G	c.(544-546)GTA>GTG	p.V182V	KLF3_uc003gtg.2_Silent_p.V182V	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	182	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						ATTTTTTAGTACCTGTAATTG	0.328												
KLF3	51274	broad.mit.edu	37	4	38698754	38698754	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38698754G>A	uc003gth.3	+	6	1240	c.908G>A	c.(907-909)CGG>CAG	p.R303Q		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	303	C2H2-type 2.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						AAGTTTGCTCGGTCTGATGAA	0.433												
FAM114A1	92689	broad.mit.edu	37	4	38933860	38933860	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38933860T>C	uc003gtn.2	+	12	1504	c.1328T>C	c.(1327-1329)GTA>GCA	p.V443A	FAM114A1_uc011byh.1_Missense_Mutation_p.V236A|FAM114A1_uc010ifi.2_Missense_Mutation_p.V101A	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	443						cytoplasm				ovary(1)	1						TTTCAGGAAGTATACATGTCG	0.353												
APBB2	323	broad.mit.edu	37	4	40832535	40832535	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:40832535C>T	uc003gvl.2	-	13	2216	c.1586G>A	c.(1585-1587)CGA>CAA	p.R529Q	APBB2_uc010ifu.2_Missense_Mutation_p.R101Q|APBB2_uc003gvm.2_Missense_Mutation_p.R508Q|APBB2_uc003gvn.2_Missense_Mutation_p.R530Q|APBB2_uc003gvk.2_5'UTR	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	529	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						TGTGTCACATCGAAATACATG	0.428												
DCAF4L1	285429	broad.mit.edu	37	4	41984155	41984155	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:41984155G>A	uc003gwk.2	+	1	443	c.346G>A	c.(346-348)GTG>ATG	p.V116M		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	116										skin(1)	1						CCACGTGTACGTGCTCAGAAA	0.562												
SLC30A9	10463	broad.mit.edu	37	4	42072645	42072645	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:42072645G>A	uc003gwl.2	+	15	1501	c.1355G>A	c.(1354-1356)CGG>CAG	p.R452Q	SLC30A9_uc011byx.1_Missense_Mutation_p.R212Q	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	452					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3						CTCTTAGGGCGGTCCATCCAG	0.478												
GABRG1	2565	broad.mit.edu	37	4	46125887	46125887	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:46125887C>T	uc003gxb.2	-	1	196	c.44G>A	c.(43-45)CGG>CAG	p.R15Q		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	15					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACTTTGACTCCGCAGAAGAAA	0.448												
FRYL	285527	broad.mit.edu	37	4	48572868	48572868	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:48572868G>A	uc003gyh.1	-	27	3577	c.2972C>T	c.(2971-2973)GCA>GTA	p.A991V	FRYL_uc003gyk.2_Missense_Mutation_p.A991V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ACCAGCATCTGCCAGCAGTTC	0.378												
FRYL	285527	broad.mit.edu	37	4	48588698	48588698	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:48588698G>A	uc003gyh.1	-	19	2293	c.1688C>T	c.(1687-1689)GCG>GTG	p.A563V	FRYL_uc003gyk.2_Missense_Mutation_p.A563V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CCTTGGAATCGCAGCAATACA	0.343												
PDGFRA	5156	broad.mit.edu	37	4	55133541	55133541	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:55133541T>C	uc003han.3	+	6	1176	c.845T>C	c.(844-846)GTG>GCG	p.V282A	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.V176A|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	282	Ig-like C2-type 3.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGGCCACGGTGAAAGACAGT	0.483			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
SRP72	6731	broad.mit.edu	37	4	57335866	57335866	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:57335866G>A	uc003hbv.2	+	2	197	c.157G>A	c.(157-159)GTA>ATA	p.V53I	SRP72_uc010ihe.2_Missense_Mutation_p.V53I	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	53					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					TTGTAAAGTGGTATGCCTTAT	0.358												
LPHN3	23284	broad.mit.edu	37	4	62758566	62758566	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:62758566A>G	uc010ihh.2	+	7	1642	c.1469A>G	c.(1468-1470)CAA>CGA	p.Q490R	LPHN3_uc003hcq.3_Missense_Mutation_p.Q490R|LPHN3_uc003hcs.1_Missense_Mutation_p.Q319R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	490	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GCATCGTCCCAAATCCCAGCT	0.522												
UGT2B10	7365	broad.mit.edu	37	4	69870627	69870627	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:69870627G>A	uc011cao.1	-	9	1559	c.1423C>T	c.(1423-1425)CTG>TTG	p.L475L	UGT2B10_uc011can.1_Silent_p.L391L			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	512	Helical; (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						AAACAAAACAGACAACACTTT	0.423												
CXCL2	2920	broad.mit.edu	37	4	74964394	74964394	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:74964394G>A	uc003hhm.3	-	3	392	c.232C>T	c.(232-234)CTC>TTC	p.L78F		NM_002089	NP_002080	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	78					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity				0	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			CCATTCTTGAGTGTGGCTCTG	0.527												
FRAS1	80144	broad.mit.edu	37	4	79420948	79420948	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:79420948G>A	uc003hlb.2	+	61	9629	c.9189G>A	c.(9187-9189)CTG>CTA	p.L3063L	FRAS1_uc003hlc.1_Silent_p.L65L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3058	Calx-beta 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTGCGATTCTGAACATCAAGG	0.532												
SPARCL1	8404	broad.mit.edu	37	4	88414892	88414892	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:88414892T>C	uc010ikm.2	-	5	1632	c.1060A>G	c.(1060-1062)AGG>GGG	p.R354G	SPARCL1_uc011cdc.1_Missense_Mutation_p.R229G|SPARCL1_uc003hqs.3_Missense_Mutation_p.R354G|SPARCL1_uc011cdd.1_Missense_Mutation_p.R229G|SPARCL1_uc003hqt.2_Missense_Mutation_p.R354G	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	354					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCACTGTGCCTGGGGCCATCA	0.438												
ABCG2	9429	broad.mit.edu	37	4	89042930	89042930	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:89042930A>G	uc003hrg.2	-	6	1039	c.546T>C	c.(544-546)TTT>TTC	p.F182F	ABCG2_uc003hrh.2_Silent_p.F182F|ABCG2_uc003hrf.2_Silent_p.F52F	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	182	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CACCACGGATAAACTGAGTTC	0.308												
UNC5C	8633	broad.mit.edu	37	4	96124100	96124100	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:96124100C>A	uc003htp.1	-	12	2072	c.1918G>T	c.(1918-1920)GGG>TGG	p.G640W	UNC5C_uc010ilc.1_Missense_Mutation_p.G659W	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	640	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTTCCTCCCCGACCACCACC	0.597												
TACR3	6870	broad.mit.edu	37	4	104640418	104640418	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:104640418T>G	uc003hxe.1	-	1	558	c.415A>C	c.(415-417)ACG>CCG	p.T139P		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	139	Helical; Name=2; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTGACCAACGTGTTGAAGGCG	0.537												
ELOVL6	79071	broad.mit.edu	37	4	110972636	110972636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:110972636C>T	uc003hzz.2	-	5	782	c.656G>A	c.(655-657)TGG>TAG	p.W219*	ELOVL6_uc003iaa.2_Nonsense_Mutation_p.W219*	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN	elongation of very long chain fatty acids-like	219					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ATGCTGCATCCAGCAGAAGAC	0.498												
PRDM5	11107	broad.mit.edu	37	4	121719471	121719471	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:121719471A>C	uc003idn.2	-	10	1389	c.1139T>G	c.(1138-1140)CTT>CGT	p.L380R	PRDM5_uc003ido.2_Missense_Mutation_p.L349R|PRDM5_uc010ine.2_Missense_Mutation_p.L349R	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	380	C2H2-type 8.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTTTCCACAAAGTTTGCATTT	0.328												
TRPC3	7222	broad.mit.edu	37	4	122854138	122854138	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:122854138C>T	uc003ieg.2	-	2	349	c.275G>A	c.(274-276)CGC>CAC	p.R92H	TRPC3_uc010inr.2_Missense_Mutation_p.R19H|TRPC3_uc003ief.2_Missense_Mutation_p.R19H|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	7	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GACAGCCTGGCGCCGGCCCTT	0.602												
SPATA5	166378	broad.mit.edu	37	4	123850212	123850212	+	Silent	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:123850212T>G	uc003iez.3	+	3	379	c.306T>G	c.(304-306)CCT>CCG	p.P102P	SPATA5_uc003iey.2_Silent_p.P101P	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	102					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						CAGCCTGGCCTATGGCAGGAT	0.453												
SPATA5	166378	broad.mit.edu	37	4	124177318	124177318	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:124177318G>A	uc003iez.3	+	15	2561	c.2488G>A	c.(2488-2490)GCA>ACA	p.A830T		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	830					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						TCAAACCGACGCATACTCAGG	0.453												
ANKRD50	57182	broad.mit.edu	37	4	125591851	125591851	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:125591851A>T	uc003ifg.3	-	3	2847	c.2581T>A	c.(2581-2583)TTG>ATG	p.L861M	ANKRD50_uc011cgo.1_Missense_Mutation_p.L682M|ANKRD50_uc010inw.2_Missense_Mutation_p.L861M	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	861	ANK 12.									central_nervous_system(1)	1						TCACATATCAATCTGTGCCCT	0.418												
FAT4	79633	broad.mit.edu	37	4	126241559	126241559	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:126241559T>C	uc003ifj.3	+	1	3993	c.3993T>C	c.(3991-3993)GGT>GGC	p.G1331G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1331	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAGAATTGGTGAACTCGTGT	0.358												
FAT4	79633	broad.mit.edu	37	4	126372561	126372561	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:126372561G>A	uc003ifj.3	+	9	10390	c.10390G>A	c.(10390-10392)GTT>ATT	p.V3464I	FAT4_uc011cgp.1_Missense_Mutation_p.V1762I|FAT4_uc003ifi.1_Missense_Mutation_p.V942I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3464	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACAGATCACCGTTACTGCAGA	0.463												
MFSD8	256471	broad.mit.edu	37	4	128878707	128878707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:128878707G>A	uc003ifp.2	-	3	266	c.103C>T	c.(103-105)CGA>TGA	p.R35*	MFSD8_uc011cgu.1_5'UTR|MFSD8_uc011cgv.1_Nonsense_Mutation_p.R35*|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_5'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	35	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						GATCTCCATCGGCTCTTATAA	0.303												
RNF150	57484	broad.mit.edu	37	4	141888894	141888894	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:141888894G>A	uc003iio.1	-	2	1272	c.618C>T	c.(616-618)CGC>CGT	p.R206R	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Silent_p.R206R	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	206	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					CAACCGAAGTGCGGCTCACAT	0.458												
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			Mis|N|D|F		colorectal|endometrial|T-ALL							
SFRP2	6423	broad.mit.edu	37	4	154709813	154709813	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:154709813G>A	uc003inv.1	-	1	416	c.175C>T	c.(175-177)CGG>TGG	p.R59W		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	59	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TTGGGCAGCCGCATGTTCTGG	0.617												
GUCY1A3	2982	broad.mit.edu	37	4	156632139	156632139	+	Silent	SNP	G	G	A	rs148529562	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:156632139G>A	uc003iov.2	+	7	1358	c.822G>A	c.(820-822)TCG>TCA	p.S274S	GUCY1A3_uc003iou.2_Silent_p.S274S|GUCY1A3_uc010iqc.2_Silent_p.S274S|GUCY1A3_uc003iow.2_Silent_p.S274S|GUCY1A3_uc010iqd.2_Silent_p.S273S|GUCY1A3_uc003iox.2_Silent_p.S274S|GUCY1A3_uc003ioz.2_Silent_p.S39S|GUCY1A3_uc003ioy.2_Silent_p.S274S|GUCY1A3_uc010iqe.2_Silent_p.S39S|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.S274S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	274					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCCAGTCCTCGCTGGTGATTC	0.458												
GUCY1B3	2983	broad.mit.edu	37	4	156723545	156723545	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:156723545G>A	uc003ipc.2	+	10	1394	c.1227G>A	c.(1225-1227)AAG>AAA	p.K409K	GUCY1B3_uc011cio.1_Silent_p.K431K|GUCY1B3_uc011cip.1_Silent_p.K389K|GUCY1B3_uc003ipd.2_Silent_p.K337K|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Silent_p.K380K|GUCY1B3_uc011ciq.1_Silent_p.K337K	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	409					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TGCGGCACAAGCGTCCAGTGC	0.488												
GUCY1B3	2983	broad.mit.edu	37	4	156725866	156725866	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:156725866A>G	uc003ipc.2	+	12	1843	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R	GUCY1B3_uc011cio.1_Missense_Mutation_p.K581R|GUCY1B3_uc011cip.1_Missense_Mutation_p.K539R|GUCY1B3_uc003ipd.2_Missense_Mutation_p.K487R|GUCY1B3_uc010iqf.2_Missense_Mutation_p.K526R|GUCY1B3_uc010iqg.2_Missense_Mutation_p.K530R|GUCY1B3_uc011ciq.1_Missense_Mutation_p.K487R	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	559					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAGGAGAAAAGGGAAAAATA	0.398												
GRIA2	2891	broad.mit.edu	37	4	158255214	158255214	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:158255214C>G	uc003ipm.3	+	9	1667	c.1208C>G	c.(1207-1209)CCT>CGT	p.P403R	GRIA2_uc011cit.1_Missense_Mutation_p.P356R|GRIA2_uc003ipl.3_Missense_Mutation_p.P403R|GRIA2_uc003ipk.3_Missense_Mutation_p.P356R|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	403	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACTGAGCTCCCTTCTGGAAAT	0.393												
FAM198B	51313	broad.mit.edu	37	4	159091970	159091970	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:159091970C>T	uc003ipp.3	-	2	1010	c.558G>A	c.(556-558)CCG>CCA	p.P186P	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Silent_p.P186P|FAM198B_uc003ipr.3_Silent_p.P186P|FAM198B_uc003ips.2_Silent_p.P186P|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	186	Extracellular (Potential).					Golgi membrane|integral to membrane					0						CTCGCACTCCCGGACCCCGCA	0.622											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RAPGEF2	9693	broad.mit.edu	37	4	160277143	160277143	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:160277143G>A	uc003iqg.3	+	23	4617	c.4307G>A	c.(4306-4308)CGG>CAG	p.R1436Q		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1436					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGAGATCGCGGATGGTCGCA	0.587												
DDX60L	91351	broad.mit.edu	37	4	169393873	169393873	+	Translation_Start_Site	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:169393873G>T	uc003irq.3	-	2	199	c.-22C>A	c.(-24--20)CCCTG>CCATG		DDX60L_uc003irr.1_Translation_Start_Site|DDX60L_uc003irt.1_Translation_Start_Site	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTGGGCTACAGGGTAGAAGAG	0.343												
ODZ3	55714	broad.mit.edu	37	4	183720983	183720983	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:183720983G>A	uc003ivd.1	+	27	7616	c.7579G>A	c.(7579-7581)GTG>ATG	p.V2527M		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2527	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGTGGCGGCCGTGCTCAACAA	0.622												
C4orf41	60684	broad.mit.edu	37	4	184606268	184606268	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:184606268G>A	uc003ivx.2	+	16	1775	c.1599G>A	c.(1597-1599)CGG>CGA	p.R533R	C4orf41_uc003ivw.2_Silent_p.R533R|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.R139R	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	533											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		AGAAGTCTCGGATAGAAAAGA	0.303												
SLC6A18	348932	broad.mit.edu	37	5	1235779	1235779	+	Splice_Site	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:1235779T>C	uc003jby.1	+	4	744	c.621_splice	c.e4+2	p.K207_splice		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18						cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACAGGGAAGGTGAGAGCTGGC	0.557												
IRX1	79192	broad.mit.edu	37	5	3599703	3599703	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:3599703C>T	uc003jde.2	+	2	693	c.641C>T	c.(640-642)CCG>CTG	p.P214L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GAGGGCGACCCGGAGAAGGCC	0.627												
NSUN2	54888	broad.mit.edu	37	5	6604300	6604300	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:6604300G>A	uc003jdu.2	-	17	1973	c.1908C>T	c.(1906-1908)CCC>CCT	p.P636P	NSUN2_uc003jds.2_Silent_p.P82P|NSUN2_uc003jdt.2_Silent_p.P400P|NSUN2_uc011cmk.1_Silent_p.P601P|NSUN2_uc003jdv.2_Silent_p.P400P	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	636						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						TTCTAAAAAAGGGATTTTCCT	0.358												
DNAH5	1767	broad.mit.edu	37	5	13864659	13864659	+	Silent	SNP	C	C	T	rs141196881	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:13864659C>T	uc003jfd.2	-	28	4485	c.4443G>A	c.(4441-4443)CCG>CCA	p.P1481P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1481	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ATTCCAGCAGCGGGCAACACT	0.522									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13900481	13900481	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:13900481A>G	uc003jfd.2	-	15	2135	c.2093T>C	c.(2092-2094)GTG>GCG	p.V698A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	698	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGGAGCCTTCACCAATAATGA	0.408									Kartagener_syndrome			
CDH10	1008	broad.mit.edu	37	5	24509865	24509865	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:24509865C>T	uc003jgr.1	-	7	1398	c.1066G>A	c.(1066-1068)GAT>AAT	p.D356N	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	356	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AAACGGGGATCTACATGGGTG	0.378										HNSCC(23;0.051)		
C5orf22	55322	broad.mit.edu	37	5	31538590	31538590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:31538590G>T	uc003jhj.3	+	4	728	c.601G>T	c.(601-603)GGA>TGA	p.G201*	C5orf22_uc011cnw.1_Splice_Site|C5orf22_uc003jhk.3_Splice_Site	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	201										ovary(2)	2						TTCTTCAGAAGGACTGGAAAA	0.453												
AMACR	23600	broad.mit.edu	37	5	34008070	34008070	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:34008070A>G	uc003jig.2	-	1	137	c.55T>C	c.(55-57)TTC>CTC	p.F19L	AMACR_uc003jih.2_Missense_Mutation_p.F19L|AMACR_uc003jii.2_Missense_Mutation_p.F19L|AMACR_uc003jij.2_Missense_Mutation_p.F19L|AMACR_uc003jil.1_Missense_Mutation_p.F19L|AMACR_uc003jik.1_Missense_Mutation_p.F19L	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	19					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						ATAGCACAGAACGGGCCCGGG	0.701												
BRIX1	55299	broad.mit.edu	37	5	34923325	34923325	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:34923325T>C	uc003jja.2	+	8	673	c.649T>C	c.(649-651)TTT>CTT	p.F217L	BRIX1_uc011col.1_3'UTR	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	217	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						TAGGATATGGTTTCGGAACTT	0.264												
DNAJC21	134218	broad.mit.edu	37	5	34954736	34954736	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:34954736G>T	uc003jjc.2	+	12	1740	c.1513G>T	c.(1513-1515)GGT>TGT	p.G505C	DNAJC21_uc003jjb.2_Missense_Mutation_p.G550C	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	505	C2H2-type 2.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAAGGCCACAGGTCATGCAAG	0.403												
SPEF2	79925	broad.mit.edu	37	5	35667345	35667345	+	Nonsense_Mutation	SNP	C	C	T	rs147855827		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:35667345C>T	uc003jjo.2	+	9	1450	c.1339C>T	c.(1339-1341)CGA>TGA	p.R447*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R447*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.R447*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	447					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGACTATCGAATGTTGAC	0.328												
C5orf33	133686	broad.mit.edu	37	5	36225645	36225645	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:36225645G>A	uc003jkf.3	-	4	559	c.559C>T	c.(559-561)CGG>TGG	p.R187W	C5orf33_uc010iux.2_Missense_Mutation_p.R24W|C5orf33_uc003jkg.3_Missense_Mutation_p.R24W|C5orf33_uc011cov.1_Missense_Mutation_p.R24W	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	hypothetical protein LOC133686 isoform 1	187							NAD+ kinase activity				0	all_lung(31;5.63e-05)		Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTCTTACCGTTCTGGATCA	0.368												
EGFLAM	133584	broad.mit.edu	37	5	38407104	38407104	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:38407104G>A	uc003jlc.1	+	8	1327	c.1003G>A	c.(1003-1005)GGT>AGT	p.G335S	EGFLAM_uc003jlb.1_Missense_Mutation_p.G335S|EGFLAM_uc003jle.1_Missense_Mutation_p.G101S|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	335						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GGGGAAGAATGGTGTGGCCAT	0.547												
TTC33	23548	broad.mit.edu	37	5	40716358	40716358	+	Silent	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:40716358T>G	uc003jma.2	-	5	826	c.678A>C	c.(676-678)TCA>TCC	p.S226S	TTC33_uc011cpm.1_Silent_p.S118S|TTC33_uc010ivg.2_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	226							binding			ovary(1)	1						TTTTATTTGCTGAAACTGTCT	0.403												
ISL1	3670	broad.mit.edu	37	5	50685554	50685554	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:50685554C>T	uc003jor.2	+	4	1101	c.553C>T	c.(553-555)CGG>TGG	p.R185W		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	185	Homeobox.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				CACCCGCGTGCGGACTGTGCT	0.672												
GZMA	3001	broad.mit.edu	37	5	54403958	54403958	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:54403958G>A	uc003jpm.2	+	4	400	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	121	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AACAGCTGATGGAAAAAGCAA	0.353												
GPBP1	65056	broad.mit.edu	37	5	56526980	56526980	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:56526980A>G	uc003jrh.3	+	5	1517	c.243A>G	c.(241-243)ACA>ACG	p.T81T	GPBP1_uc010iwg.2_Silent_p.T81T|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.T88T|GPBP1_uc003jrk.3_Silent_p.T88T|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GAAATGGTACAGAAAACATAA	0.363												
CENPK	64105	broad.mit.edu	37	5	64824337	64824337	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:64824337A>G	uc003jts.2	-	9	751	c.539T>C	c.(538-540)TTG>TCG	p.L180S	CENPK_uc003jtt.2_Missense_Mutation_p.L150S|CENPK_uc003jtu.2_Missense_Mutation_p.L180S	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	180					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AAACTCGCCCAAGGTACTCAA	0.269												
CCNB1	891	broad.mit.edu	37	5	68470089	68470089	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:68470089A>G	uc003jvm.2	+	5	735	c.558A>G	c.(556-558)GCA>GCG	p.A186A	CCNB1_uc011crd.1_Silent_p.A186A|CCNB1_uc010ixb.2_Silent_p.A186A	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAGAGCAAGCAGTCAGACCAA	0.413												
CMYA5	202333	broad.mit.edu	37	5	79025033	79025033	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79025033G>T	uc003kgc.2	+	2	517	c.445G>T	c.(445-447)GGC>TGC	p.G149C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	149						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACGCCGGAAAGGCAACAGAAA	0.403												
THBS4	7060	broad.mit.edu	37	5	79368151	79368151	+	Missense_Mutation	SNP	C	C	T	rs148589675		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79368151C>T	uc003kgh.2	+	15	2094	c.1771C>T	c.(1771-1773)CGG>TGG	p.R591W	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	591	TSP type-3 5.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCGTGACCAACGGGACAAGGA	0.468												
ANKRD34B	340120	broad.mit.edu	37	5	79854681	79854681	+	Silent	SNP	G	G	A	rs141172423		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79854681G>A	uc010jam.2	-	4	1508	c.1158C>T	c.(1156-1158)GAC>GAT	p.D386D	ANKRD34B_uc003kgw.2_Silent_p.D386D|ANKRD34B_uc010jan.2_Silent_p.D386D	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	386						cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GTGCTTTGCCGTCTTCTGAAG	0.463												
LYSMD3	116068	broad.mit.edu	37	5	89815177	89815177	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:89815177C>T	uc003kjr.2	-	3	528	c.380G>A	c.(379-381)AGA>AAA	p.R127K	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Silent_p.K107K	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	127	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGAAGTCTGTCTTCCTTTTGG	0.393												
ELL2	22936	broad.mit.edu	37	5	95242268	95242268	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:95242268T>C	uc003klr.3	-	5	1050	c.700A>G	c.(700-702)AAT>GAT	p.N234D		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	234					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TCTTTTTGATTGACACCATCT	0.473												
FAM174A	345757	broad.mit.edu	37	5	99871497	99871497	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:99871497T>C	uc003knj.1	+	1	383	c.263T>C	c.(262-264)GTG>GCG	p.V88A	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	88	Extracellular (Potential).					integral to membrane					0						AGCAACCCTGTGGCCGGGCTT	0.726												
PGGT1B	5229	broad.mit.edu	37	5	114573651	114573651	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:114573651C>T	uc003kqw.3	-	4	404	c.383G>A	c.(382-384)GGC>GAC	p.G128D	PGGT1B_uc003kqx.3_Missense_Mutation_p.G5D|PGGT1B_uc010jch.2_Missense_Mutation_p.G128D	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	128					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GCATGAGAGGCCAGTGTAGGT	0.413												
AP3S1	1176	broad.mit.edu	37	5	115230848	115230848	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:115230848T>C	uc003krl.2	+	4	454	c.338T>C	c.(337-339)GTA>GCA	p.V113A	AP3S1_uc003krk.2_Missense_Mutation_p.V91A|AP3S1_uc003krm.2_Missense_Mutation_p.V113A	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	113					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		ATTTTCCATGTAGACAAGGTA	0.269												
SEMA6A	57556	broad.mit.edu	37	5	115782940	115782940	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:115782940G>A	uc010jck.2	-	19	3171	c.2462C>T	c.(2461-2463)ACG>ATG	p.T821M	SEMA6A_uc003krx.3_Missense_Mutation_p.T838M|SEMA6A_uc011cwe.1_Missense_Mutation_p.T200M|SEMA6A_uc003krv.3_Missense_Mutation_p.T248M|SEMA6A_uc003krw.3_Missense_Mutation_p.T298M|SEMA6A_uc010jcj.2_Missense_Mutation_p.T365M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	821	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCCCTGCTGCGTGATGGGCAG	0.652												
FAM170A	340069	broad.mit.edu	37	5	118969758	118969758	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:118969758G>A	uc003ksm.2	+	3	525	c.315G>A	c.(313-315)TCG>TCA	p.S105S	FAM170A_uc003ksl.2_Silent_p.S105S|FAM170A_uc003ksn.2_Silent_p.S105S|FAM170A_uc003kso.2_Silent_p.S58S	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	105						intracellular	zinc ion binding			skin(1)	1						TCTCCTTGTCGTCCTATTCAT	0.488												
MEGF10	84466	broad.mit.edu	37	5	126746174	126746174	+	Silent	SNP	C	C	T	rs148970564		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:126746174C>T	uc003kuh.3	+	10	1373	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	MEGF10_uc010jdc.1_Silent_p.G337G|MEGF10_uc010jdd.1_Silent_p.G337G|MEGF10_uc003kui.3_Silent_p.G337G	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	337	Extracellular (Potential).|EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACGTGAGCGGCGCATGCCTCT	0.592												
SHROOM1	134549	broad.mit.edu	37	5	132159629	132159629	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:132159629C>T	uc003kxx.2	-	7	2529	c.1724G>A	c.(1723-1725)GGA>GAA	p.G575E	SHROOM1_uc003kxy.1_Missense_Mutation_p.G575E	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	575	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAATCAGTCCATCCAGCAG	0.612												
AFF4	27125	broad.mit.edu	37	5	132232379	132232379	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:132232379G>A	uc003kyd.2	-	11	2351	c.1943C>T	c.(1942-1944)ACC>ATC	p.T648I	AFF4_uc011cxk.1_Missense_Mutation_p.T326I|AFF4_uc003kye.1_Missense_Mutation_p.T648I	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	648					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGGATGAGGTATCTGTTTC	0.433												
PHF15	23338	broad.mit.edu	37	5	133873698	133873698	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:133873698C>T	uc003kzo.1	+	3	257	c.78C>T	c.(76-78)TCC>TCT	p.S26S	PHF15_uc011cxt.1_Silent_p.S26S|PHF15_uc003kzk.2_Silent_p.S42S|PHF15_uc003kzl.2_Silent_p.S26S|PHF15_uc003kzm.2_Silent_p.S26S|PHF15_uc003kzn.2_Silent_p.S26S	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	26					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCTACATCCGCATCAAGAT	0.552												
TGFBI	7045	broad.mit.edu	37	5	135398902	135398902	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:135398902G>T	uc003lbf.3	+	17	2200	c.2039G>T	c.(2038-2040)AGG>ATG	p.R680M	TGFBI_uc003lbg.3_Missense_Mutation_p.R413M|TGFBI_uc003lbh.3_Missense_Mutation_p.R506M|TGFBI_uc011cyb.1_Missense_Mutation_p.R506M|TGFBI_uc010jed.2_Missense_Mutation_p.R378M|TGFBI_uc010jee.2_RNA	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	680					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTATTAGAGAGGATGAAGCAT	0.438												
TRPC7	57113	broad.mit.edu	37	5	135587451	135587451	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:135587451G>A	uc003lbn.1	-	5	1465	c.1462C>T	c.(1462-1464)CGC>TGC	p.R488C	TRPC7_uc010jef.1_Missense_Mutation_p.R425C|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R419C|TRPC7_uc010jei.1_Missense_Mutation_p.R364C|TRPC7_uc010jej.1_Missense_Mutation_p.R40C	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	489	Extracellular (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCATGAAGCGTGCTGTGAAG	0.602												
PCDHA2	56146	broad.mit.edu	37	5	140174696	140174696	+	Silent	SNP	G	G	A	rs144324178	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140174696G>A	uc003lhd.2	+	1	253	c.147G>A	c.(145-147)GCG>GCA	p.A49A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.A49A|PCDHA2_uc011czy.1_Silent_p.A49A	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	49	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCATCGCGCAGGACCTGG	0.667												
PCDHA2	56146	broad.mit.edu	37	5	140175430	140175430	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140175430C>G	uc003lhd.2	+	1	987	c.881C>G	c.(880-882)ACC>AGC	p.T294S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.T294S|PCDHA2_uc011czy.1_Missense_Mutation_p.T294S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	294	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAAGTTTACCATAGATCCC	0.428												
PCDHA4	56144	broad.mit.edu	37	5	140188556	140188556	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140188556G>A	uc003lhi.2	+	1	1885	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R595H|PCDHA4_uc011daa.1_Missense_Mutation_p.R595H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	595	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAGGTGCGCGCGGTGGAT	0.697												
PCDHA5	56143	broad.mit.edu	37	5	140201489	140201489	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140201489C>T	uc003lhl.2	+	1	129	c.129C>T	c.(127-129)TTC>TTT	p.F43F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.F43F|PCDHA5_uc003lhj.1_Silent_p.F43F	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	43	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGAACCTTCGTTGGCCGCA	0.667												
PCDHA5	56143	broad.mit.edu	37	5	140201685	140201685	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140201685G>A	uc003lhl.2	+	1	325	c.325G>A	c.(325-327)GTG>ATG	p.V109M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V109M|PCDHA5_uc003lhj.1_Missense_Mutation_p.V109M	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	109	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.527												
PCDHA6	56142	broad.mit.edu	37	5	140209128	140209128	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140209128G>A	uc003lho.2	+	1	1479	c.1452G>A	c.(1450-1452)GCG>GCA	p.A484A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.A484A|PCDHA6_uc011dab.1_Silent_p.A484A	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662												
PCDHA12	56137	broad.mit.edu	37	5	140255202	140255202	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140255202G>A	uc003lic.2	+	1	272	c.145G>A	c.(145-147)GCT>ACT	p.A49T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A49T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	49	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCTCAGGACCT	0.652												
PCDHA12	56137	broad.mit.edu	37	5	140256424	140256424	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140256424C>T	uc003lic.2	+	1	1494	c.1367C>T	c.(1366-1368)GCG>GTG	p.A456V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A456V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	456	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGTTCGCGCAGCCCGAG	0.662												
PCDHAC1	56135	broad.mit.edu	37	5	140308873	140308873	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140308873G>A	uc003lih.2	+	1	2572	c.2396G>A	c.(2395-2397)CGG>CAG	p.R799Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R799Q	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	799	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAGATTCGGAATAGGAAA	0.453												
PCDHB1	29930	broad.mit.edu	37	5	140432846	140432846	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140432846A>G	uc003lik.1	+	1	1868	c.1791A>G	c.(1789-1791)TCA>TCG	p.S597S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	597	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGTGACTCAGGTCAGAATT	0.488												
PCDHB2	56133	broad.mit.edu	37	5	140476383	140476383	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140476383A>G	uc003lil.2	+	1	2147	c.2009A>G	c.(2008-2010)CAG>CGG	p.Q670R	PCDHB2_uc003lim.1_Missense_Mutation_p.Q331R	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	670	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTCTCCCAGCCCTACCTG	0.692												
PCDHB5	26167	broad.mit.edu	37	5	140515304	140515304	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140515304C>T	uc003liq.2	+	1	505	c.288C>T	c.(286-288)TGC>TGT	p.C96C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	96	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGATGTGCGGGGCGACAG	0.433												
PCDHB5	26167	broad.mit.edu	37	5	140517028	140517028	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140517028C>T	uc003liq.2	+	1	2229	c.2012C>T	c.(2011-2013)CCG>CTG	p.P671L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	671	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCCGCTGCCGGAG	0.692												
PCDHGA1	56114	broad.mit.edu	37	5	140711013	140711013	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140711013C>T	uc003lji.1	+	1	762	c.762C>T	c.(760-762)AAC>AAT	p.N254N	PCDHGA1_uc011dan.1_Silent_p.N254N	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	254	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGAAAACGTGCCGCTGG	0.488												
PCDHGA3	56112	broad.mit.edu	37	5	140723769	140723769	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140723769C>T	uc003ljm.1	+	1	169	c.169C>T	c.(169-171)CGG>TGG	p.R57W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.R57W	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	57	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGAGCCCCGGGAGCTGGC	0.602											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGA5	56110	broad.mit.edu	37	5	140744911	140744911	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140744911G>T	uc003lju.1	+	1	1014	c.1014G>T	c.(1012-1014)CAG>CAT	p.Q338H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.Q338H	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	338	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGTACAGGACGTGAATG	0.512												
PCDHGB7	56099	broad.mit.edu	37	5	140799068	140799068	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140799068C>T	uc003lkn.1	+	1	1787	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.L548L|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	548	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTGAGCCTGCGCGTGTT	0.716												
PCDHGA11	56105	broad.mit.edu	37	5	140800954	140800954	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140800954G>T	uc003lkq.1	+	1	418	c.160G>T	c.(160-162)GGG>TGG	p.G54W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G54W|PCDHGA11_uc003lkp.1_Missense_Mutation_p.G54W	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	54	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGACCTGGGGCTGGAGCC	0.632												
HDAC3	8841	broad.mit.edu	37	5	141004855	141004855	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:141004855G>A	uc003llf.2	-	14	1203	c.1137C>T	c.(1135-1137)GAC>GAT	p.D379D	HDAC3_uc003lle.1_Silent_p.D322D	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	379					anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTGCAGGCACGTCATGAATCT	0.512												
KIAA0141	9812	broad.mit.edu	37	5	141304247	141304247	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:141304247C>T	uc003lls.2	+	2	255	c.133C>T	c.(133-135)CCT>TCT	p.P45S	KIAA0141_uc003llt.2_Missense_Mutation_p.P45S	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	45					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCCTGTGCCTAACCTCGA	0.438												
SPINK13	153218	broad.mit.edu	37	5	147661674	147661674	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:147661674G>A	uc003lpc.2	+	4	178	c.116G>A	c.(115-117)TGT>TAT	p.C39Y	uc003lpb.1_Intron|SPINK13_uc010jgt.2_RNA	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	serine PI Kazal type 5-like 3 precursor	39	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0						CAGCCCCGATGTAAAATGTAT	0.418												
AFAP1L1	134265	broad.mit.edu	37	5	148691717	148691717	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:148691717G>A	uc003lqh.2	+	9	1101	c.970G>A	c.(970-972)GTG>ATG	p.V324M	AFAP1L1_uc003lqg.3_Missense_Mutation_p.V324M|AFAP1L1_uc010jgy.2_Missense_Mutation_p.V324M	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	324							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGAGGGAGTGGAGGTCCC	0.572												
TIGD6	81789	broad.mit.edu	37	5	149374812	149374812	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:149374812G>A	uc003lri.2	-	2	1862	c.1100C>T	c.(1099-1101)ACA>ATA	p.T367I	TIGD6_uc003lrj.2_Missense_Mutation_p.T367I	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	367	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTCACCACTGTGGATGGCTT	0.502												
SYNPO	11346	broad.mit.edu	37	5	150029852	150029852	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:150029852G>A	uc003lsn.2	+	3	3121	c.2747G>A	c.(2746-2748)GGG>GAG	p.G916E	SYNPO_uc003lso.3_Missense_Mutation_p.G672E|SYNPO_uc003lsp.2_Missense_Mutation_p.G672E	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	916					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGAACGCCGGGATCGAGGCT	0.632												
FAT2	2196	broad.mit.edu	37	5	150908810	150908810	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:150908810G>A	uc003lue.3	-	14	9968	c.9955C>T	c.(9955-9957)CCC>TCC	p.P3319S	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P12S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3319	Extracellular (Potential).|Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAATTGGGGCCGGTGTTCA	0.522												
FAT2	2196	broad.mit.edu	37	5	150924238	150924238	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:150924238C>T	uc003lue.3	-	9	6463	c.6450G>A	c.(6448-6450)ACG>ACA	p.T2150T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2150	Extracellular (Potential).|Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGATGGCGTTCCTCCAT	0.413												
LARP1	23367	broad.mit.edu	37	5	154172187	154172187	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:154172187G>A	uc003lvp.2	+	4	999	c.570G>A	c.(568-570)CAG>CAA	p.Q190Q	LARP1_uc003lvo.2_Silent_p.Q113Q|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	190							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TATAGCCACAGTCCCACAAGC	0.517												
LARP1	23367	broad.mit.edu	37	5	154183869	154183869	+	Splice_Site	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:154183869T>C	uc003lvp.2	+	14	2975	c.2546_splice	c.e14+2	p.S849_splice	LARP1_uc003lvo.2_Splice_Site_p.S772_splice	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2								protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCATCAGGTACCTGGGGCA	0.532												
ADRA1B	147	broad.mit.edu	37	5	159344089	159344089	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:159344089C>T	uc003lxt.1	+	1	350	c.177C>T	c.(175-177)GCC>GCT	p.A59A		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	59	Helical; Name=1; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TCCTCTTTGCCATCGTGGGCA	0.617												
TLX3	30012	broad.mit.edu	37	5	170736389	170736389	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:170736389C>T	uc003mbf.2	+	1	102	c.20C>T	c.(19-21)GCG>GTG	p.A7V	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	7						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCCAGCGCGCAGACCCCG	0.771			T	BCL11B	T-ALL							
HK3	3101	broad.mit.edu	37	5	176311062	176311062	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176311062C>T	uc003mfa.2	-	14	2023	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	HK3_uc003mez.2_Missense_Mutation_p.R200Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	644	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.R644W(1)		ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGCTTCCCGCAACAGACT	0.587												
GRK6	2870	broad.mit.edu	37	5	176858998	176858998	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176858998C>T	uc011dfz.1	+	3	311	c.151C>T	c.(151-153)CGT>TGT	p.R51C	GRK6_uc003mgp.2_Missense_Mutation_p.R51C|GRK6_uc003mgq.2_Missense_Mutation_p.R51C|GRK6_uc003mgs.1_Missense_Mutation_p.R21C	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	51	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAACAGAGCGTGACTATCA	0.657												
DDX41	51428	broad.mit.edu	37	5	176938902	176938902	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176938902C>A	uc003mho.2	-	17	1780	c.1759G>T	c.(1759-1761)GGC>TGC	p.G587C	DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.G367C|DDX41_uc003mhn.2_Missense_Mutation_p.G456C|DDX41_uc003mhp.2_Missense_Mutation_p.G456C	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	587	CCHC-type.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGACCCAGGCCCCCGCAGAAG	0.632												
FLT4	2324	broad.mit.edu	37	5	180046343	180046343	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:180046343G>A	uc003mma.3	-	19	2750	c.2671C>T	c.(2671-2673)CGC>TGC	p.R891C	FLT4_uc003mlz.3_Missense_Mutation_p.R891C	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	891	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATCAGCGCGCGGTGCTCGCTG	0.697									Congenital_Hereditary_Lymphedema			
DUSP22	56940	broad.mit.edu	37	6	348149	348149	+	Missense_Mutation	SNP	A	A	G	rs147274051		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:348149A>G	uc003msx.2	+	6	749	c.310A>G	c.(310-312)ATG>GTG	p.M104V	DUSP22_uc011dhn.1_Missense_Mutation_p.M104V|DUSP22_uc003msy.1_Missense_Mutation_p.M61V	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	104	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CGCATACATCATGACCGTCAC	0.607												
FAM50B	26240	broad.mit.edu	37	6	3850780	3850780	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:3850780G>A	uc003mvu.2	+	2	847	c.735G>A	c.(733-735)CCG>CCA	p.P245P		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	245						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCATCCTGCCGCACTACCACA	0.632												
CDYL	9425	broad.mit.edu	37	6	4952571	4952571	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:4952571G>A	uc003mwi.2	+	8	1697	c.1566G>A	c.(1564-1566)CAG>CAA	p.Q522Q	CDYL_uc003mwj.2_Silent_p.Q468Q|CDYL_uc003mwk.2_Silent_p.Q233Q|CDYL_uc011dhx.1_Silent_p.Q336Q|CDYL_uc011dhy.1_Silent_p.Q336Q	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	522					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGGTCTCCCAGGTGTTTTGGC	0.527												
LRRC16A	55604	broad.mit.edu	37	6	25450638	25450638	+	Splice_Site	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:25450638G>A	uc011djw.1	+	7	916	c.540_splice	c.e7+1	p.W180_splice	LRRC16A_uc010jpx.2_Splice_Site_p.W180_splice|LRRC16A_uc010jpy.2_Splice_Site_p.W180_splice|LRRC16A_uc003nez.1_Splice_Site_p.W19_splice	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						AGTACAATGGGTAAGAATGTC	0.388												
PRSS16	10279	broad.mit.edu	37	6	27216672	27216672	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:27216672T>G	uc003nja.2	+	3	296	c.284T>G	c.(283-285)ATA>AGA	p.I95R	PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_5'UTR|PRSS16_uc010jqr.1_5'UTR|PRSS16_uc003njc.1_RNA|PRSS16_uc003njd.2_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	95					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)|skin(1)	5						GATGGACCCATATTCCTGCAT	0.552												
C6orf15	29113	broad.mit.edu	37	6	31079953	31079953	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:31079953C>T	uc003nsk.1	-	2	183	c.183G>A	c.(181-183)CCG>CCA	p.P61P	PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	61											0						GAGCGGGCTGCGGATGTTCAG	0.567												
CFB	629	broad.mit.edu	37	6	31914339	31914339	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:31914339T>C	uc003nyj.3	+	2	532	c.254T>C	c.(253-255)CTG>CCG	p.L85P	CFB_uc011dor.1_Missense_Mutation_p.L587P|CFB_uc011dos.1_Missense_Mutation_p.L85P|CFB_uc003nyi.2_Missense_Mutation_p.L85P	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	85	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						TGGAGCACCCTGAAGACTCAA	0.582												
VPS52	6293	broad.mit.edu	37	6	33236284	33236284	+	Missense_Mutation	SNP	G	G	A	rs147423039		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33236284G>A	uc003odm.1	-	7	901	c.691C>T	c.(691-693)CGG>TGG	p.R231W	VPS52_uc003odn.1_Missense_Mutation_p.R106W|VPS52_uc003odo.1_Missense_Mutation_p.R156W|VPS52_uc011dqy.1_Missense_Mutation_p.R106W|VPS52_uc011dqz.1_Missense_Mutation_p.R106W	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	231					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ACCTTGACCCGGAGCCGATCG	0.587												
SYNGAP1	8831	broad.mit.edu	37	6	33410722	33410722	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33410722C>T	uc011dri.1	+	15	2588	c.2393C>T	c.(2392-2394)CCG>CTG	p.P798L	SYNGAP1_uc010juy.2_Missense_Mutation_p.P769L|SYNGAP1_uc010juz.2_Missense_Mutation_p.P510L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	798	SH3-binding (Potential).				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CCCCCACCACCGCCTGGTGGT	0.597												
ITPR3	3710	broad.mit.edu	37	6	33642006	33642006	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33642006G>A	uc011drk.1	+	24	3299	c.3080G>A	c.(3079-3081)CGC>CAC	p.R1027H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1027	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						AACCTGGATCGCATCGGGGAG	0.627												
ITPR3	3710	broad.mit.edu	37	6	33657105	33657105	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33657105G>A	uc011drk.1	+	50	7004	c.6785G>A	c.(6784-6786)CGC>CAC	p.R2262H	ITPR3_uc003oey.2_Missense_Mutation_p.R349H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2262	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TACAGCATCCGCCCCCTCATC	0.612												
SNRPC	6631	broad.mit.edu	37	6	34730386	34730386	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:34730386G>T	uc003ojt.1	+	3	81	c.66G>T	c.(64-66)AAG>AAT	p.K22N		NM_003093	NP_003084	P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	22	Matrin-type.				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			pancreas(1)	1						CTGTGAGAAAGACACACTGCA	0.348												
SCUBE3	222663	broad.mit.edu	37	6	35196500	35196500	+	Silent	SNP	C	C	T	rs144991938		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:35196500C>T	uc003okf.1	+	3	324	c.318C>T	c.(316-318)GAC>GAT	p.D106D	SCUBE3_uc003okg.1_Silent_p.D106D|SCUBE3_uc003okh.1_Translation_Start_Site	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	106	EGF-like 2; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TGGCACATGACGGACACAACT	0.498												
DNAH8	1769	broad.mit.edu	37	6	38709643	38709643	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:38709643G>A	uc003ooe.1	+	6	1222	c.622G>A	c.(622-624)GCA>ACA	p.A208T		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GCTAAATGTTGCACACTCCAA	0.353												
KCNK5	8645	broad.mit.edu	37	6	39196773	39196773	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:39196773A>G	uc003oon.2	-	1	479	c.115T>C	c.(115-117)TAC>CAC	p.Y39H		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	39					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						TTCTGTGTGTAGTAGTTTTTC	0.582												
POLH	5429	broad.mit.edu	37	6	43568821	43568821	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:43568821C>T	uc003ovq.3	+	6	1061	c.757C>T	c.(757-759)CGC>TGC	p.R253C	POLH_uc010jyu.2_Missense_Mutation_p.R129C|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.R154C	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	253	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AATGCCCATTCGCAAAATGTA	0.458								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum			
RSPH9	221421	broad.mit.edu	37	6	43612962	43612962	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:43612962C>T	uc003ovw.1	+	1	153	c.127C>T	c.(127-129)CGG>TGG	p.R43W	RSPH9_uc003ovx.1_Missense_Mutation_p.R43W	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	43					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						CCGCTATGATCGGGTTCTCTT	0.642									Kartagener_syndrome			
PGK2	5232	broad.mit.edu	37	6	49754037	49754037	+	Silent	SNP	A	A	G	rs139041045	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:49754037A>G	uc003ozu.2	-	1	971	c.864T>C	c.(862-864)ACT>ACC	p.T288T		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	288					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					ACTTGTCCCCAGTAACAAAAT	0.458												
PKHD1	5314	broad.mit.edu	37	6	51920455	51920455	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:51920455C>T	uc003pah.1	-	19	2042	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	PKHD1_uc003pai.2_Missense_Mutation_p.R589H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	589	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R589H(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCGAGGCTGACGGAGGCTGAA	0.547												
KHDRBS2	202559	broad.mit.edu	37	6	62442603	62442603	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:62442603C>T	uc003peg.2	-	7	1124	c.877G>A	c.(877-879)GCG>ACG	p.A293T		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTTTGGGTCGCATAGCTGTTA	0.378												
KCNQ5	56479	broad.mit.edu	37	6	73902388	73902388	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:73902388G>A	uc003pgk.2	+	13	2157	c.1810G>A	c.(1810-1812)GGT>AGT	p.G604S	KCNQ5_uc011dyh.1_Missense_Mutation_p.G623S|KCNQ5_uc011dyi.1_Missense_Mutation_p.G614S|KCNQ5_uc010kat.2_Missense_Mutation_p.G595S|KCNQ5_uc011dyj.1_Missense_Mutation_p.G494S|KCNQ5_uc011dyk.1_Missense_Mutation_p.G354S	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	604					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGTATGCTCGGTCGGGTGGT	0.383												
COL12A1	1303	broad.mit.edu	37	6	75840678	75840678	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:75840678G>A	uc003phs.2	-	36	6123	c.5957C>T	c.(5956-5958)ACG>ATG	p.T1986M	COL12A1_uc003pht.2_Missense_Mutation_p.T822M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1986	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CACCATGCGCGTGTTTCCTGG	0.502												
COL12A1	1303	broad.mit.edu	37	6	75843032	75843032	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:75843032C>T	uc003phs.2	-	34	5937	c.5771G>A	c.(5770-5772)CGC>CAC	p.R1924H	COL12A1_uc003pht.2_Missense_Mutation_p.R760H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1924	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATCTGATGTGCGTCCCCCATC	0.388												
COL12A1	1303	broad.mit.edu	37	6	75866132	75866132	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:75866132G>A	uc003phs.2	-	15	3257	c.3091C>T	c.(3091-3093)CGC>TGC	p.R1031C	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1031	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCATGAGGGCGATAGACAACA	0.473												
LCA5	167691	broad.mit.edu	37	6	80228566	80228566	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:80228566C>T	uc003pix.2	-	2	481	c.46G>A	c.(46-48)GCA>ACA	p.A16T	LCA5_uc003piy.2_Missense_Mutation_p.A16T|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.A16T	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	16					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGTTTGCCTGCCTTTCTTTCT	0.413												
IBTK	25998	broad.mit.edu	37	6	82912316	82912316	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:82912316A>G	uc003pjl.1	-	18	3185	c.2658T>C	c.(2656-2658)TAT>TAC	p.Y886Y	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Silent_p.Y886Y|IBTK_uc011dyw.1_Silent_p.Y685Y|IBTK_uc010kbi.1_Silent_p.Y580Y|IBTK_uc003pjm.2_Silent_p.Y886Y	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	886					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GTTTTGCACTATACATTGCTG	0.363												
TPBG	7162	broad.mit.edu	37	6	83075702	83075702	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:83075702C>A	uc003pjn.3	+	3	1960	c.1024C>A	c.(1024-1026)CTG>ATG	p.L342M	TPBG_uc010kbj.2_Missense_Mutation_p.L342M|TPBG_uc003pjo.2_Missense_Mutation_p.L342M	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	342	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CAGTGCTGACCTGGACTGTGA	0.502												
HTR1E	3354	broad.mit.edu	37	6	87725829	87725829	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:87725829C>A	uc003pli.2	+	2	1480	c.777C>A	c.(775-777)TTC>TTA	p.F259L		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	259	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTGAAAAGTTCCATGCCTCCA	0.498												
GABRR2	2570	broad.mit.edu	37	6	89974270	89974270	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:89974270G>T	uc003pnb.2	-	8	1030	c.1022C>A	c.(1021-1023)CCG>CAG	p.P341Q	GABRR2_uc011dzx.1_Missense_Mutation_p.P217Q	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	341					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GGAGACGCGCGGCATGGAGGC	0.587												
AIM1	202	broad.mit.edu	37	6	106989472	106989472	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:106989472A>G	uc003prh.2	+	8	4120	c.3633A>G	c.(3631-3633)AAA>AAG	p.K1211K	AIM1_uc003pri.2_Silent_p.K15K	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1211							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTGGCCGTAAAGTTGAATTCC	0.214												
C6orf182	285753	broad.mit.edu	37	6	109471409	109471409	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:109471409A>G	uc010kdk.2	+	6	1006	c.429A>G	c.(427-429)GTA>GTG	p.V143V	C6orf182_uc003psv.3_Silent_p.V127V|C6orf182_uc003psw.3_Silent_p.V143V|C6orf182_uc003psx.3_Silent_p.V143V|C6orf182_uc010kdl.2_Silent_p.V143V|C6orf182_uc003psy.3_Silent_p.V143V	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	143	Potential.					microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		TTCTCAACGTAGAGCGAGAAA	0.303												
ZBTB24	9841	broad.mit.edu	37	6	109787365	109787365	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:109787365G>A	uc003ptl.1	-	7	1951	c.1783C>T	c.(1783-1785)CTC>TTC	p.L595F	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.L539F|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGCTGCGTGAGCAGGGTAAGA	0.473												
DDO	8528	broad.mit.edu	37	6	110714089	110714089	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:110714089G>A	uc003puc.2	-	5	1003	c.999C>T	c.(997-999)GGC>GGT	p.G333G	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.G274G	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	305					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CACTCCCATGGCCATAGTGGT	0.642												
RPF2	84154	broad.mit.edu	37	6	111336989	111336989	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:111336989C>T	uc003pun.2	+	8	545	c.526C>T	c.(526-528)CGC>TGC	p.R176C	RPF2_uc003puo.2_Missense_Mutation_p.R113C	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	176	Brix.					nucleolus	protein binding			ovary(2)	2						ATCAAATATCCGCCTGGCTGG	0.338												
C6orf170	221322	broad.mit.edu	37	6	121577313	121577313	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:121577313G>A	uc003pyo.1	-	16	1920	c.1852C>T	c.(1852-1854)CGT>TGT	p.R618C	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.R137C	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	618					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TATATGTGACGACACACAGAA	0.338												
TPD52L1	7164	broad.mit.edu	37	6	125550288	125550288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:125550288C>T	uc003pzu.1	+	3	379	c.160C>T	c.(160-162)CGA>TGA	p.R54*	TPD52L1_uc003pzv.1_Nonsense_Mutation_p.R54*|TPD52L1_uc003pzw.1_Nonsense_Mutation_p.R54*|TPD52L1_uc003pzx.1_Nonsense_Mutation_p.R25*|TPD52L1_uc003pzy.1_Nonsense_Mutation_p.R25*|TPD52L1_uc003pzz.1_Nonsense_Mutation_p.R25*	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	54	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TACAACACTACGACAAGTTTT	0.408												
ENPP3	5169	broad.mit.edu	37	6	131973697	131973697	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:131973697G>A	uc003qcu.3	+	5	640	c.293G>A	c.(292-294)TGC>TAC	p.C98Y	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.C64Y|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.C98Y	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	98	Extracellular (Potential).|SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATATGGATGTGCAATAAATTT	0.353												
VNN2	8875	broad.mit.edu	37	6	133070863	133070863	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:133070863C>T	uc003qdt.2	-	6	1353	c.1342G>A	c.(1342-1344)GAA>AAA	p.E448K	VNN2_uc003qds.2_Missense_Mutation_p.E157K|VNN2_uc010kgb.2_Missense_Mutation_p.E227K|VNN2_uc003qdv.2_Missense_Mutation_p.E395K	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	448					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATGAATTTCGGTAAGTAGC	0.373												
KIAA1244	57221	broad.mit.edu	37	6	138655839	138655839	+	Silent	SNP	C	C	T	rs147588243	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:138655839C>T	uc003qhu.2	+	33	5856	c.5856C>T	c.(5854-5856)ACC>ACT	p.T1952T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1952					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCCCATCCACCGGGGGCTTCT	0.617												
ECT2L	345930	broad.mit.edu	37	6	139186191	139186191	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:139186191C>T	uc003qif.1	+	10	1453	c.1350C>T	c.(1348-1350)TGC>TGT	p.C450C	ECT2L_uc011edq.1_Silent_p.C381C	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	450					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						TCTACTTCTGCGAATCGAAGC	0.458												
LTV1	84946	broad.mit.edu	37	6	144165680	144165680	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:144165680G>A	uc003qjs.2	+	2	168	c.61G>A	c.(61-63)GTC>ATC	p.V21I		NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	21										ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TTTTCACTTGGTCCACCGGAG	0.433												
STX11	8676	broad.mit.edu	37	6	144508363	144508363	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:144508363C>T	uc003qks.3	+	2	791	c.599C>T	c.(598-600)GCG>GTG	p.A200V		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	200				ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).|A -> V (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTGAAGGGCGCGCGGGCCGCC	0.632									Familial_Hemophagocytic_Lymphohistiocytosis			
SASH1	23328	broad.mit.edu	37	6	148792601	148792601	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:148792601G>A	uc003qme.1	+	6	951	c.476G>A	c.(475-477)CGA>CAA	p.R159Q		NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	159							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGAACTTCCGAAAGAACCAG	0.338												
ZC3H12D	340152	broad.mit.edu	37	6	149777807	149777807	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:149777807G>A	uc003qmn.1	-	3	745	c.675C>T	c.(673-675)AAC>AAT	p.N225N	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.N225N|ZC3H12D_uc010kid.2_Silent_p.N225N	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	225						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CCTACCGGTCGTTGACGAAGG	0.532												
C6orf211	79624	broad.mit.edu	37	6	151790201	151790201	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:151790201A>G	uc003qok.1	+	5	1541	c.1282A>G	c.(1282-1284)ACC>GCC	p.T428A	C6orf211_uc011ees.1_Missense_Mutation_p.T309A	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	428							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CAGCTGGTGGACCACTGGAAA	0.483												
ESR1	2099	broad.mit.edu	37	6	152129139	152129139	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:152129139T>C	uc003qom.3	+	3	462	c.92T>C	c.(91-93)CTC>CCC	p.L31P	ESR1_uc010kin.2_Missense_Mutation_p.L31P|ESR1_uc010kio.2_Missense_Mutation_p.L31P|ESR1_uc010kip.2_Missense_Mutation_p.L31P|ESR1_uc003qon.3_Missense_Mutation_p.L31P|ESR1_uc003qoo.3_Missense_Mutation_p.L31P|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Missense_Mutation_p.L31P	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	31	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CGTCCGCAGCTCAAGATCCCC	0.642												
SYNE1	23345	broad.mit.edu	37	6	152605134	152605134	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:152605134C>T	uc010kiw.2	-	96	18788	c.18186G>A	c.(18184-18186)TCG>TCA	p.S6062S	SYNE1_uc010kiv.2_Silent_p.S586S|SYNE1_uc003qos.3_Silent_p.S586S|SYNE1_uc003qot.3_Silent_p.S5991S|SYNE1_uc003qou.3_Silent_p.S6062S|SYNE1_uc010kiy.1_Silent_p.S241S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6062	Spectrin 20.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCGTTTCCCCGAGGCTTTCA	0.507										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152847285	152847285	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:152847285T>C	uc010kiw.2	-	5	757	c.155A>G	c.(154-156)GAT>GGT	p.D52G	SYNE1_uc003qot.3_Missense_Mutation_p.D52G|SYNE1_uc003qou.3_Missense_Mutation_p.D52G|SYNE1_uc010kjb.1_Missense_Mutation_p.D52G|SYNE1_uc003qpa.1_Missense_Mutation_p.D52G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	52	Actin-binding.|Cytoplasmic (Potential).|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAAAAAGATCGTCCACCAC	0.338										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155504511	155504511	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:155504511C>A	uc003qqb.2	+	16	4214	c.2941C>A	c.(2941-2943)CTG>ATG	p.L981M	TIAM2_uc003qqe.2_Missense_Mutation_p.L981M|TIAM2_uc010kjj.2_Missense_Mutation_p.L514M|TIAM2_uc003qqf.2_Missense_Mutation_p.L357M|TIAM2_uc011efl.1_Missense_Mutation_p.L317M|TIAM2_uc003qqg.2_Missense_Mutation_p.L293M	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	981					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAAAGCAACCCTGTGTACATC	0.542												
TFB1M	51106	broad.mit.edu	37	6	155581417	155581417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:155581417G>A	uc003qqj.3	-	6	848	c.784C>T	c.(784-786)CGA>TGA	p.R262*	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CTGAGCCCTCGATGGCAGTAT	0.423												
ARID1B	57492	broad.mit.edu	37	6	157528079	157528079	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:157528079C>T	uc003qqn.2	+	20	5902	c.5750C>T	c.(5749-5751)GCG>GTG	p.A1917V	ARID1B_uc003qqo.2_Missense_Mutation_p.A1877V|ARID1B_uc003qqp.2_Missense_Mutation_p.A1864V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGTACCATCGCGCACTGGCAG	0.532												
EZR	7430	broad.mit.edu	37	6	159190862	159190862	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:159190862T>C	uc003qrt.3	-	10	1420	c.1205A>G	c.(1204-1206)GAG>GGG	p.E402G	EZR_uc011efr.1_Missense_Mutation_p.E9G|EZR_uc011efs.1_Missense_Mutation_p.E370G|EZR_uc003qru.3_Missense_Mutation_p.E402G	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	402	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCTCTCCAGCTCCTCCTTAGC	0.587												
TAGAP	117289	broad.mit.edu	37	6	159457193	159457193	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:159457193C>T	uc003qrz.2	-	10	2194	c.1862G>A	c.(1861-1863)GGG>GAG	p.G621E	TAGAP_uc011eft.1_Missense_Mutation_p.G558E|TAGAP_uc003qsa.2_Missense_Mutation_p.G443E	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	621					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCTCATGCTCCCCACCGTCAT	0.642												
PARK2	5071	broad.mit.edu	37	6	161969940	161969940	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:161969940C>T	uc003qtx.3	-	9	1163	c.1029G>A	c.(1027-1029)CCG>CCA	p.P343P	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Silent_p.P152P|PARK2_uc003qtw.3_Silent_p.P152P|PARK2_uc003qty.3_Silent_p.P315P|PARK2_uc003qtz.3_Silent_p.P194P|PARK2_uc010kke.1_Silent_p.P362P|PARK2_uc011egf.1_Silent_p.P17P	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	343	IBR-type.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGTCAGGCTCCGGCAGCAGCC	0.637												
UNC93A	54346	broad.mit.edu	37	6	167708152	167708152	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:167708152G>A	uc003qvq.2	+	2	410	c.235G>A	c.(235-237)GTG>ATG	p.V79M	UNC93A_uc003qvr.2_Missense_Mutation_p.V79M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	79	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGTGGCTACGTGGCCTTCTC	0.642												
MLLT4	4301	broad.mit.edu	37	6	168352423	168352423	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:168352423C>T	uc003qwd.2	+	29	4507	c.4365C>T	c.(4363-4365)CCC>CCT	p.P1455P	MLLT4_uc003qwb.1_Silent_p.P1440P|MLLT4_uc003qwc.1_Silent_p.P1456P|MLLT4_uc003qwg.1_Silent_p.P765P	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1456					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGTTTTCTCCCCTGACTGCAC	0.617			T	MLL	AL							
PRKAR1B	5575	broad.mit.edu	37	7	635869	635869	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:635869C>T	uc003siu.1	-	8	728	c.622G>A	c.(622-624)GGC>AGC	p.G208S	PRKAR1B_uc003siv.2_Missense_Mutation_p.G208S|PRKAR1B_uc003siw.1_Missense_Mutation_p.G208S|PRKAR1B_uc003six.1_RNA	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	208	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGGGGGTGCCGTAGATGAGC	0.617												
SUN1	23353	broad.mit.edu	37	7	891069	891069	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:891069C>A	uc011jvp.1	+	7	786	c.707C>A	c.(706-708)GCT>GAT	p.A236D	GET4_uc003sjj.1_5'Flank|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.A141D|SUN1_uc011jvr.1_Intron|SUN1_uc003sji.2_Missense_Mutation_p.A74D|SUN1_uc003sjk.2_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	263	SYNE2-binding.|Nuclear.|EMD-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GTGGGCCAGGCTGTGTCCAGG	0.607												
GPR146	115330	broad.mit.edu	37	7	1097241	1097241	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1097241G>A	uc003sjw.2	+	2	166	c.90G>A	c.(88-90)TCG>TCA	p.S30S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Silent_p.S30S|GPR146_uc003sjy.1_Silent_p.S30S	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	30	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CACTGTTGTCGCTGCTGGGCC	0.677												
GPER	2852	broad.mit.edu	37	7	1132424	1132424	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1132424G>A	uc010ksd.1	+	2	1449	c.1060G>A	c.(1060-1062)GCT>ACT	p.A354T	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A354T|GPER_uc003ska.1_Missense_Mutation_p.A354T|GPER_uc003skb.2_Missense_Mutation_p.A354T	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	354	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CTTCTGTCACGCTGCCCTGAA	0.587												
INTS1	26173	broad.mit.edu	37	7	1518027	1518027	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1518027G>A	uc003skn.2	-	33	4706	c.4605C>T	c.(4603-4605)AGC>AGT	p.S1535S	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1535					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCGGCTCCACGCTGCACTGCT	0.667												
INTS1	26173	broad.mit.edu	37	7	1535174	1535174	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1535174C>T	uc003skn.2	-	13	1828	c.1727G>A	c.(1726-1728)CGC>CAC	p.R576H	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	576					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGGAATGAGCGGAGCACTTC	0.612												
MAD1L1	8379	broad.mit.edu	37	7	1937855	1937855	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1937855C>A	uc003slh.1	-	18	2245	c.1979G>T	c.(1978-1980)GGC>GTC	p.G660V	MAD1L1_uc003sle.1_Missense_Mutation_p.G389V|MAD1L1_uc003slf.1_Missense_Mutation_p.G660V|MAD1L1_uc003slg.1_Missense_Mutation_p.G660V|MAD1L1_uc010ksh.1_Missense_Mutation_p.G660V|MAD1L1_uc003sli.1_Missense_Mutation_p.G568V|MAD1L1_uc010ksi.1_Missense_Mutation_p.G613V|MAD1L1_uc010ksj.2_Missense_Mutation_p.G660V|MAD1L1_uc003sld.1_Missense_Mutation_p.G116V	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	660					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GAGGCAGTCGCCTGGGTGCTC	0.632												
TNRC18	84629	broad.mit.edu	37	7	5353487	5353487	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:5353487G>A	uc003soi.3	-	27	7384	c.7035C>T	c.(7033-7035)GCC>GCT	p.A2345A		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2345							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGGGTAGCGGCTCTGTCTG	0.587												
OCM	654231	broad.mit.edu	37	7	5922230	5922230	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:5922230C>T	uc003spe.3	+	2	260	c.168C>T	c.(166-168)AGC>AGT	p.S56S		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	oncomodulin	56	1.|EF-hand 1.	Calcium 1.					calcium ion binding				0		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ACGACCAGAGCGGGTACCTGG	0.527												
USP42	84132	broad.mit.edu	37	7	6187483	6187483	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:6187483C>T	uc011jwo.1	+	12	1469	c.1346C>T	c.(1345-1347)CCA>CTA	p.P449L	USP42_uc010kth.1_Missense_Mutation_p.P382L|USP42_uc011jwp.1_Missense_Mutation_p.P449L|USP42_uc011jwq.1_Missense_Mutation_p.P256L|USP42_uc011jwr.1_Missense_Mutation_p.P294L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	449					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGCTGCGCCAGGCTTTATC	0.473												
THSD7A	221981	broad.mit.edu	37	7	11457139	11457139	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:11457139T>C	uc003ssf.3	-	16	3727	c.3475A>G	c.(3475-3477)AAA>GAA	p.K1159E		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1159	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATGGTAATTTGCACACTCTA	0.438										HNSCC(18;0.044)		
CDCA7L	55536	broad.mit.edu	37	7	21942677	21942677	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:21942677C>T	uc010kuk.2	-	9	1373	c.1253G>A	c.(1252-1254)CGT>CAT	p.R418H	CDCA7L_uc003sve.3_Missense_Mutation_p.R384H|CDCA7L_uc010kul.2_Missense_Mutation_p.R372H|CDCA7L_uc003svf.3_Missense_Mutation_p.R417H	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	418					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						GCGGCCGTCACGCTTCCGACA	0.493												
HOXA11	3207	broad.mit.edu	37	7	27224775	27224775	+	Translation_Start_Site	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:27224775C>A	uc003syx.2	-	1	61	c.-11G>T	c.(-13--9)AAGGT>AATGT		HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11						branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2						ATTGGGCTACCTTGGGCTCTC	0.493			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
TRIL	9865	broad.mit.edu	37	7	28997415	28997415	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:28997415C>T	uc003szt.2	-	3	615	c.248G>A	c.(247-249)GGG>GAG	p.G83E	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	83	Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						TCTGAGCTGCCCCAGACGGTG	0.622												
ELMO1	9844	broad.mit.edu	37	7	36927225	36927225	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:36927225G>A	uc003tfk.1	-	18	1961	c.1654C>T	c.(1654-1656)CGC>TGC	p.R552C	ELMO1_uc003tfi.1_Missense_Mutation_p.R72C|ELMO1_uc003tfj.1_Missense_Mutation_p.R72C|ELMO1_uc011kbb.1_Intron|ELMO1_uc011kbc.1_Missense_Mutation_p.R456C|ELMO1_uc010kxg.1_Missense_Mutation_p.R552C	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	552					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						CGGTTCAGGCGTTGCTGTTTG	0.473												
GLI3	2737	broad.mit.edu	37	7	42006188	42006188	+	Missense_Mutation	SNP	G	G	A	rs116840759		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:42006188G>A	uc011kbh.1	-	15	2574	c.2483C>T	c.(2482-2484)CCG>CTG	p.P828L	GLI3_uc011kbg.1_Missense_Mutation_p.P769L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	828					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCTTCTGCCCGGGAGAAGCGT	0.592									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:44149840C>T	uc003tkb.2	+	11	1600	c.1295C>T	c.(1294-1296)GCG>GTG	p.A432V	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	432	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TATGATGGTGCGTGGTGTGCC	0.632												
GRB10	2887	broad.mit.edu	37	7	50686887	50686887	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:50686887C>T	uc003tpi.2	-	6	788	c.757G>A	c.(757-759)GAG>AAG	p.E253K	GRB10_uc003tph.3_Missense_Mutation_p.E195K|GRB10_uc003tpj.2_Missense_Mutation_p.E253K|GRB10_uc003tpk.2_Missense_Mutation_p.E253K|GRB10_uc010kzb.2_Missense_Mutation_p.E195K|GRB10_uc003tpl.2_Missense_Mutation_p.E247K|GRB10_uc003tpm.2_Missense_Mutation_p.E195K|GRB10_uc003tpn.2_Missense_Mutation_p.E195K	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	253					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					TTAAAGAACTCGTATTTTGCG	0.423									Russell-Silver_syndrome			
ZNF680	340252	broad.mit.edu	37	7	63981713	63981713	+	Nonsense_Mutation	SNP	C	C	T	rs144844755		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:63981713C>T	uc003tta.2	-	4	1592	c.1419G>A	c.(1417-1419)TGG>TGA	p.W473*	ZNF680_uc010kzr.2_Nonsense_Mutation_p.W400*	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	473	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				GAGTTGCAGGCCAGTTAAAAA	0.373												
GUSB	2990	broad.mit.edu	37	7	65439613	65439613	+	Missense_Mutation	SNP	G	G	A	rs121918173		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:65439613G>A	uc003tun.2	-	7	1220	c.1144C>T	c.(1144-1146)CGT>TGT	p.R382C	GUSB_uc011kdt.1_Missense_Mutation_p.R236C	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	382			R -> C (in MPS7).|R -> H (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TGGCTGGTACGGAAAGCGTTG	0.592												
FZD9	8326	broad.mit.edu	37	7	72849435	72849435	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:72849435C>T	uc003tyb.2	+	1	1327	c.1098C>T	c.(1096-1098)CCC>CCT	p.P366P		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	366	Helical; Name=4; (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGCCTGCCCGCGCTCAAGA	0.652												
PHTF2	57157	broad.mit.edu	37	7	77569558	77569558	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:77569558G>A	uc003ugs.3	+	13	1805	c.1679G>A	c.(1678-1680)CGC>CAC	p.R560H	PHTF2_uc003ugp.2_Missense_Mutation_p.R522H|PHTF2_uc003ugq.3_Missense_Mutation_p.R522H|PHTF2_uc010ldv.2_Missense_Mutation_p.R522H|PHTF2_uc003ugt.3_Missense_Mutation_p.R526H|PHTF2_uc003ugu.3_Missense_Mutation_p.R522H|PHTF2_uc010ldw.1_Missense_Mutation_p.R342H	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTTGTGGTTCGCGTGTCTCTT	0.343												
MAGI2	9863	broad.mit.edu	37	7	77885526	77885526	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:77885526G>A	uc003ugx.2	-	10	2035	c.1781C>T	c.(1780-1782)GCT>GTT	p.A594V	MAGI2_uc003ugy.2_Missense_Mutation_p.A594V|MAGI2_uc010ldx.1_Missense_Mutation_p.A203V|MAGI2_uc010ldy.1_Missense_Mutation_p.A203V|MAGI2_uc011kgr.1_Missense_Mutation_p.A426V|MAGI2_uc011kgs.1_Missense_Mutation_p.A431V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	594						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCCAGATGAAGCCATAGACAC	0.542												
PCLO	27445	broad.mit.edu	37	7	82579564	82579564	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:82579564G>A	uc003uhx.2	-	6	10629	c.10340C>T	c.(10339-10341)ACG>ATG	p.T3447M	PCLO_uc003uhv.2_Missense_Mutation_p.T3447M|PCLO_uc010lec.2_Missense_Mutation_p.T412M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3378					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTCGTCATCCGTTTGTACACC	0.433												
SEMA3E	9723	broad.mit.edu	37	7	83119550	83119550	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:83119550A>G	uc003uhy.1	-	2	622	c.156T>C	c.(154-156)CCT>CCC	p.P52P		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GAAATCCAAAAGGGCTATGAA	0.408												
SEMA3A	10371	broad.mit.edu	37	7	83739842	83739842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:83739842C>A	uc003uhz.2	-	4	712	c.397G>T	c.(397-399)GGA>TGA	p.G133*		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	133	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						GCCCCCGTTCCACAGGCGTAC	0.383												
ABCB4	5244	broad.mit.edu	37	7	87060812	87060812	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:87060812C>T	uc003uiv.1	-	15	1877	c.1801G>A	c.(1801-1803)GCT>ACT	p.A601T	ABCB4_uc003uiw.1_Missense_Mutation_p.A601T|ABCB4_uc003uix.1_Missense_Mutation_p.A601T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	601	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCAAACCCAGCGATGACATCT	0.493												
KRIT1	889	broad.mit.edu	37	7	91830633	91830633	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:91830633T>C	uc003ulq.1	-	16	2301	c.2130A>G	c.(2128-2130)GTA>GTG	p.V710V	KRIT1_uc010lev.1_Silent_p.V467V|KRIT1_uc003ulr.1_Silent_p.V710V|KRIT1_uc003uls.1_Silent_p.V710V|KRIT1_uc003ult.1_Silent_p.V662V|KRIT1_uc003ulu.1_Silent_p.V710V|KRIT1_uc003ulv.1_Silent_p.V710V	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	710	Required for RAP1A binding.|FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTTGTATGTACTATAAAGC	0.289									Familial_Cerebral_Cavernous_Angioma			
PPP1R9A	55607	broad.mit.edu	37	7	94539496	94539496	+	Missense_Mutation	SNP	G	G	A	rs140272671		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:94539496G>A	uc003unp.2	+	2	353	c.71G>A	c.(70-72)CGA>CAA	p.R24Q	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R24Q|PPP1R9A_uc011kif.1_Missense_Mutation_p.R24Q|PPP1R9A_uc003unq.2_Missense_Mutation_p.R24Q|PPP1R9A_uc011kig.1_Missense_Mutation_p.R24Q	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	24	Actin-binding.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AATGCATATCGAACTGAGTTT	0.473										HNSCC(28;0.073)		
LMTK2	22853	broad.mit.edu	37	7	97822648	97822648	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:97822648C>T	uc003upd.1	+	11	3164	c.2871C>T	c.(2869-2871)GAC>GAT	p.D957D		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	957					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTCTAAAGACGCAGCAAAAG	0.502												
LMTK2	22853	broad.mit.edu	37	7	97822957	97822957	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:97822957C>T	uc003upd.1	+	11	3473	c.3180C>T	c.(3178-3180)GGC>GGT	p.G1060G		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1060					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACCACGGGCGATGGCGGCC	0.622												
TRRAP	8295	broad.mit.edu	37	7	98508867	98508867	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:98508867G>T	uc003upp.2	+	17	2189	c.1980G>T	c.(1978-1980)GAG>GAT	p.E660D	TRRAP_uc011kis.1_Missense_Mutation_p.E660D|TRRAP_uc003upr.2_Missense_Mutation_p.E352D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	660				E -> D (in Ref. 2; AAD04629).	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			ATATGGTGGAGAGAATCTCAA	0.338												
MBLAC1	255374	broad.mit.edu	37	7	99725616	99725616	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:99725616G>A	uc003utp.2	+	2	997	c.598G>A	c.(598-600)GAG>AAG	p.E200K		NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	200							hydrolase activity|metal ion binding			breast(1)	1						AGATGGGGACGAGGATTCGTG	0.701												
MUC17	140453	broad.mit.edu	37	7	100683157	100683157	+	Silent	SNP	G	G	A	rs140072363	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:100683157G>A	uc003uxp.1	+	3	8513	c.8460G>A	c.(8458-8460)ACG>ACA	p.T2820T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2820	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACCACACGCCAGTGGCCA	0.493												
PLOD3	8985	broad.mit.edu	37	7	100855210	100855210	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:100855210G>A	uc003uyd.2	-	11	1605	c.1149C>T	c.(1147-1149)CCC>CCT	p.P383P	PLOD3_uc010lhs.2_5'UTR	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	383					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACTCACACTCGGGGTCCTGCC	0.642												
PRKRIP1	79706	broad.mit.edu	37	7	102045105	102045105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:102045105C>T	uc003uzh.2	+	4	422	c.367C>T	c.(367-369)CAG>TAG	p.Q123*	PRKRIP1_uc003uzf.2_Nonsense_Mutation_p.Q72*|PRKRIP1_uc003uzg.2_Nonsense_Mutation_p.Q72*|PRKRIP1_uc011kkq.1_Nonsense_Mutation_p.Q66*|PRKRIP1_uc011kkr.1_Nonsense_Mutation_p.Q123*	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	123	Potential.|Required for RNA-binding (By similarity).					nucleolus				ovary(1)	1						TGCAGAGGAGCAGACCGCAAA	0.507											OREG0018229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RELN	5649	broad.mit.edu	37	7	103155847	103155847	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:103155847G>A	uc003vca.2	-	50	8064	c.7904C>T	c.(7903-7905)GCC>GTC	p.A2635V	RELN_uc010liz.2_Missense_Mutation_p.A2635V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2635					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGCGAGTGGCAATCTCTTT	0.502												
RELN	5649	broad.mit.edu	37	7	103341413	103341413	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:103341413G>A	uc003vca.2	-	9	1006	c.846C>T	c.(844-846)ATC>ATT	p.I282I	RELN_uc010liz.2_Silent_p.I282I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	282					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATAACACGATGATGCTGGGGT	0.328												
MLL5	55904	broad.mit.edu	37	7	104681416	104681416	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:104681416C>A	uc003vcm.2	+	3	551	c.17C>A	c.(16-18)CCA>CAA	p.P6Q	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6Q|MLL5_uc003vcl.2_Missense_Mutation_p.P6Q|MLL5_uc010ljc.2_Missense_Mutation_p.P6Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	6					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						ATAGTGATCCCATTGGGGGTT	0.428												
LAMB1	3912	broad.mit.edu	37	7	107575868	107575868	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:107575868C>T	uc003vew.2	-	27	4515	c.4180G>A	c.(4180-4182)GCC>ACC	p.A1394T	LAMB1_uc003vev.2_Missense_Mutation_p.A1418T	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1394	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCATTTCGGCAGCGGCTGAA	0.413												
LAMB1	3912	broad.mit.edu	37	7	107615466	107615466	+	Missense_Mutation	SNP	G	G	A	rs139568495	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:107615466G>A	uc003vew.2	-	12	1782	c.1447C>T	c.(1447-1449)CGT>TGT	p.R483C	LAMB1_uc003vev.2_Missense_Mutation_p.R507C|LAMB1_uc003vex.2_Missense_Mutation_p.R483C|LAMB1_uc010ljn.1_Missense_Mutation_p.R569C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	483	Laminin EGF-like 4.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACCAGACGCTTGCAGTAG	0.468												
LRRN3	54674	broad.mit.edu	37	7	110763830	110763830	+	Silent	SNP	C	C	A	rs147135549		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:110763830C>A	uc003vft.3	+	4	2048	c.1002C>A	c.(1000-1002)CCC>CCA	p.P334P	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.P334P|LRRN3_uc003vfs.3_Silent_p.P334P	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	334	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCAGACTCCCCAAGCTGGAAT	0.433												
IFRD1	3475	broad.mit.edu	37	7	112112350	112112350	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:112112350C>G	uc003vgh.2	+	11	1561	c.1118C>G	c.(1117-1119)ACC>AGC	p.T373S	IFRD1_uc011kmn.1_Missense_Mutation_p.T323S|IFRD1_uc003vgj.2_Missense_Mutation_p.T373S|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.T323S|IFRD1_uc003vgk.2_Missense_Mutation_p.T90S	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	373					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						AAAAAACACACCTATGACACC	0.398												
IFRD1	3475	broad.mit.edu	37	7	112112914	112112914	+	Silent	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:112112914A>C	uc003vgh.2	+	12	1707	c.1264A>C	c.(1264-1266)AGG>CGG	p.R422R	IFRD1_uc011kmn.1_Silent_p.R372R|IFRD1_uc003vgj.2_Silent_p.R422R|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Silent_p.R372R|IFRD1_uc003vgk.2_Silent_p.R139R	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	422					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						TCGTTTCGAAAGGGTAGGTTT	0.373												
PPP1R3A	5506	broad.mit.edu	37	7	113518738	113518738	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:113518738C>A	uc010ljy.1	-	4	2440	c.2409G>T	c.(2407-2409)AAG>AAT	p.K803N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	803					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AACGTGATTCCTTTTCAAAAT	0.368												
CFTR	1080	broad.mit.edu	37	7	117232511	117232511	+	Nonsense_Mutation	SNP	C	C	T	rs121908810		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:117232511C>T	uc003vjd.2	+	14	2422	c.2290C>T	c.(2290-2292)CGA>TGA	p.R764*	CFTR_uc011knq.1_Nonsense_Mutation_p.R170*	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	764	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTTCAGGCACGAAGGAGGCA	0.532									Cystic_Fibrosis			
KCND2	3751	broad.mit.edu	37	7	119915075	119915075	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:119915075G>A	uc003vjj.1	+	1	1354	c.389G>A	c.(388-390)GGC>GAC	p.G130D		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	130	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GAAATCATCGGCGACTGCTGT	0.587												
KCND2	3751	broad.mit.edu	37	7	120373105	120373105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:120373105C>T	uc003vjj.1	+	2	2229	c.1264C>T	c.(1264-1266)CGA>TGA	p.R422*		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	422	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AGCAGACAAACGAAGGGCACA	0.438												
IQUB	154865	broad.mit.edu	37	7	123120018	123120018	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:123120018C>T	uc003vkn.2	-	8	1818	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	IQUB_uc003vko.2_Missense_Mutation_p.R414Q|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Missense_Mutation_p.R414Q	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	414										ovary(3)|large_intestine(1)	4						TTCTTCTTGCCGCCAGACTAG	0.363												
LMOD2	442721	broad.mit.edu	37	7	123302716	123302716	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:123302716G>A	uc003vky.2	+	2	1233	c.1076G>A	c.(1075-1077)CGT>CAT	p.R359H		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	359						cytoskeleton	actin binding|tropomyosin binding				0						AGGCAAAAACGTTTGCAGGAG	0.463												
POT1	25913	broad.mit.edu	37	7	124469343	124469343	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:124469343T>C	uc003vlm.2	-	16	2160	c.1559A>G	c.(1558-1560)GAT>GGT	p.D520G	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.D389G|POT1_uc003vln.2_Intron	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	520					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						CGATGTTTTATCAACCAGGGA	0.303												
IMPDH1	3614	broad.mit.edu	37	7	128038487	128038487	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:128038487C>T	uc011kol.1	-	7	906	c.800G>A	c.(799-801)GGC>GAC	p.G267D	IMPDH1_uc011kom.1_Missense_Mutation_p.G262D|IMPDH1_uc003vmt.2_Missense_Mutation_p.G242D|IMPDH1_uc003vmu.2_Missense_Mutation_p.G352D|IMPDH1_uc003vmw.2_Missense_Mutation_p.G342D|IMPDH1_uc011kon.1_Missense_Mutation_p.G319D|IMPDH1_uc003vmv.2_Missense_Mutation_p.G316D|IMPDH1_uc003vmx.2_Missense_Mutation_p.G275D|IMPDH1_uc003vmy.2_Missense_Mutation_p.G283D	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	267	NAD (By similarity).				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GACGTCGACGCCCGCCTGGGT	0.607											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NRF1	4899	broad.mit.edu	37	7	129350368	129350368	+	Missense_Mutation	SNP	T	T	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:129350368T>A	uc003voz.2	+	7	1037	c.920T>A	c.(919-921)GTC>GAC	p.V307D	NRF1_uc003vpa.2_Missense_Mutation_p.V307D|NRF1_uc011kpa.1_Missense_Mutation_p.V146D|NRF1_uc003vpb.2_Missense_Mutation_p.V307D	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	307	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CAGACTGTAGTCCAGACTTTT	0.493												
CHRM2	1129	broad.mit.edu	37	7	136700421	136700421	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:136700421T>C	uc003vtf.1	+	4	1432	c.809T>C	c.(808-810)GTG>GCG	p.V270A	CHRM2_uc003vtg.1_Missense_Mutation_p.V270A|CHRM2_uc003vtj.1_Missense_Mutation_p.V270A|CHRM2_uc003vtk.1_Missense_Mutation_p.V270A|CHRM2_uc003vtl.1_Missense_Mutation_p.V270A|CHRM2_uc003vtm.1_Missense_Mutation_p.V270A|CHRM2_uc003vti.1_Missense_Mutation_p.V270A|CHRM2_uc003vto.1_Missense_Mutation_p.V270A|CHRM2_uc003vtn.1_Missense_Mutation_p.V270A|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	270	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGGGATCCTGTGACTGAAAAC	0.488												
SSPO	23145	broad.mit.edu	37	7	149512418	149512418	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:149512418G>A	uc010lpk.2	+	76	10738	c.10738G>A	c.(10738-10740)GTG>ATG	p.V3580M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3580					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCTGTGCGTGCCCCCAGC	0.711												
DPP6	1804	broad.mit.edu	37	7	154585835	154585835	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:154585835G>A	uc003wlk.2	+	11	1312	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	DPP6_uc003wli.2_Missense_Mutation_p.A331T|DPP6_uc003wlm.2_Missense_Mutation_p.A333T|DPP6_uc011kvq.1_Missense_Mutation_p.A288T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	395	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CACCAAGGTCGCCGTGACCTG	0.637												
HTR5A	3361	broad.mit.edu	37	7	154862987	154862987	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:154862987G>A	uc003wlu.1	+	1	442	c.378G>A	c.(376-378)ACG>ACA	p.T126T	uc011kvt.1_Silent_p.A9A|uc003wlt.2_Silent_p.A9A	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	126	Helical; Name=3; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTTGCTGCACGGCCAGCATCT	0.652												
LMBR1	64327	broad.mit.edu	37	7	156518499	156518499	+	Silent	SNP	C	C	T	rs140247020	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:156518499C>T	uc003wmw.3	-	13	1241	c.1026G>A	c.(1024-1026)ACG>ACA	p.T342T	LMBR1_uc003wmv.3_Silent_p.T190T|LMBR1_uc003wmx.3_Silent_p.T190T|LMBR1_uc010lqn.2_Silent_p.T383T|LMBR1_uc011kvx.1_Silent_p.T321T	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	342	Helical; (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CAAAACCAAACGTAGAAAGAG	0.403												
NOM1	64434	broad.mit.edu	37	7	156743059	156743059	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:156743059A>G	uc003wmy.2	+	1	643	c.628A>G	c.(628-630)AGC>GGC	p.S210G		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	210	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGTGCCGCTGAGCTTTGCACG	0.582												
ESYT2	57488	broad.mit.edu	37	7	158560419	158560419	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:158560419C>T	uc003wob.1	-	8	1060	c.994G>A	c.(994-996)GTG>ATG	p.V332M	ESYT2_uc003woc.1_Missense_Mutation_p.V156M|ESYT2_uc003wod.1_Missense_Mutation_p.V332M	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	360						integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TTGGGAAGCACCAGATAGTTT	0.423												
ZNF596	169270	broad.mit.edu	37	8	194678	194678	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:194678G>T	uc003wot.2	+	5	571	c.283G>T	c.(283-285)GGC>TGC	p.G95C	ZNF596_uc003wou.2_5'UTR|ZNF596_uc003wov.2_Missense_Mutation_p.G95C|ZNF596_uc003wow.2_Missense_Mutation_p.G95C	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CTATCAGAAGGGCACGTCCAC	0.358												
DLGAP2	9228	broad.mit.edu	37	8	1497079	1497079	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:1497079G>A	uc003wpl.2	+	2	317	c.220G>A	c.(220-222)GAC>AAC	p.D74N	DLGAP2_uc003wpm.2_Missense_Mutation_p.D74N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	153					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGTGCTGGGCGACCACGTGTC	0.716												
ARHGEF10	9639	broad.mit.edu	37	8	1833846	1833846	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:1833846G>A	uc003wpr.2	+	11	1333	c.1155G>A	c.(1153-1155)CCG>CCA	p.P385P	ARHGEF10_uc003wpq.1_Silent_p.P410P|ARHGEF10_uc003wps.2_Silent_p.P347P|ARHGEF10_uc003wpt.2_Silent_p.P261P|ARHGEF10_uc003wpv.2_Silent_p.P118P|ARHGEF10_uc010lre.2_Silent_p.P65P	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	410					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCTTGACCCCGATGCCCGAGG	0.443												
CSMD1	64478	broad.mit.edu	37	8	3245031	3245031	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:3245031A>C	uc011kwk.1	-	18	3160	c.2770T>G	c.(2770-2772)TTG>GTG	p.L924V	CSMD1_uc011kwj.1_Missense_Mutation_p.L316V|CSMD1_uc003wqe.2_Missense_Mutation_p.L80V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	924	Extracellular (Potential).|Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGCTGGGCAAGGCGTGGTTC	0.577												
DEFA5	1670	broad.mit.edu	37	8	6914177	6914177	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:6914177G>T	uc003wra.1	-	1	83	c.43C>A	c.(43-45)CTG>ATG	p.L15M		NM_021010	NP_066290	Q01523	DEF5_HUMAN	defensin, alpha 5 preproprotein	15					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGGGCCTGCAGGGCCACCAGG	0.587												
XKR6	286046	broad.mit.edu	37	8	11058321	11058321	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:11058321C>T	uc003wtk.1	-	1	555	c.528G>A	c.(526-528)GTG>GTA	p.V176V		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	176	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCAGGCTCTGCACCAGCAGCG	0.697												
XKR6	286046	broad.mit.edu	37	8	11058806	11058806	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:11058806C>T	uc003wtk.1	-	1	70	c.43G>A	c.(43-45)GCT>ACT	p.A15T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	15	Gly-rich.					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGCAGCTGAGCGAAGCCCACC	0.468												
C8orf79	57604	broad.mit.edu	37	8	12878931	12878931	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:12878931G>A	uc010lsq.2	+	5	1235	c.743G>A	c.(742-744)CGT>CAT	p.R248H	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.R161H|C8orf79_uc010lsr.2_Missense_Mutation_p.R122H	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	248							methyltransferase activity				0						AAATCGTTTCGTTCCTGGTTT	0.413												
CNOT7	29883	broad.mit.edu	37	8	17088329	17088329	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:17088329G>A	uc003wxf.1	-	7	926	c.758C>T	c.(757-759)GCC>GTC	p.A253V	CNOT7_uc003wxg.1_Missense_Mutation_p.A253V	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	253					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		ACAATATTTGGCATCATCAAT	0.338												
LZTS1	11178	broad.mit.edu	37	8	20107520	20107520	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:20107520G>A	uc003wzr.2	-	3	1615	c.1504C>T	c.(1504-1506)CGG>TGG	p.R502W	LZTS1_uc010ltg.1_Intron	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	502					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCAGCTCCCGCTGCAGGGCA	0.721												
XPO7	23039	broad.mit.edu	37	8	21847891	21847891	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:21847891G>T	uc003xaa.3	+	17	2007	c.1905G>T	c.(1903-1905)GCG>GCT	p.A635A	XPO7_uc010lti.2_Silent_p.A644A|XPO7_uc010ltk.2_Silent_p.A636A	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	635					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCTTAGTGCGGTACAGTTCA	0.458												
REEP4	80346	broad.mit.edu	37	8	21998164	21998164	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:21998164C>T	uc003xau.1	-	2	532	c.79G>A	c.(79-81)GTG>ATG	p.V27M	REEP4_uc010ltt.1_Missense_Mutation_p.V27M|REEP4_uc011kyz.1_Missense_Mutation_p.V27M	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	27						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TTGGTCTTCACAGCCTTATAG	0.552												
SFTPC	6440	broad.mit.edu	37	8	22020095	22020095	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:22020095C>T	uc003xax.3	+	2	209	c.51C>T	c.(49-51)TCC>TCT	p.S17S	SFTPC_uc003xaw.3_Silent_p.S66S|SFTPC_uc011kza.1_Silent_p.S17S|SFTPC_uc003xaz.2_Silent_p.S17S|SFTPC_uc003xay.3_Silent_p.S17S	NM_003018	NP_003009	P11686	PSPC_HUMAN	surfactant protein C precursor	17					respiratory gaseous exchange	extracellular space					0				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGACTACTCCGCAGCTCCCC	0.607												
CDCA2	157313	broad.mit.edu	37	8	25343307	25343307	+	Silent	SNP	C	C	T	rs138630584		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:25343307C>T	uc003xep.1	+	11	1877	c.1398C>T	c.(1396-1398)GCC>GCT	p.A466A	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.A466A|CDCA2_uc003xeq.1_Silent_p.A451A|CDCA2_uc003xer.1_Silent_p.A129A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	466					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATCATTTGCCGTTCTCAGTT	0.308												
PTK2B	2185	broad.mit.edu	37	8	27279842	27279842	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:27279842C>T	uc003xfn.1	+	10	1301	c.493C>T	c.(493-495)CGC>TGC	p.R165C	PTK2B_uc003xfo.1_Missense_Mutation_p.R165C|PTK2B_uc003xfp.1_Missense_Mutation_p.R165C|PTK2B_uc003xfq.1_Missense_Mutation_p.R165C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	165	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTACATGCAGCGCTACGCCAG	0.627												
WRN	7486	broad.mit.edu	37	8	30916670	30916670	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:30916670C>A	uc003xio.3	+	3	886	c.98C>A	c.(97-99)GCA>GAA	p.A33E		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	33	Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAACTCAAGGCATGTGTTCGG	0.353			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
WRN	7486	broad.mit.edu	37	8	30969281	30969281	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:30969281C>A	uc003xio.3	+	19	3027	c.2239C>A	c.(2239-2241)CTT>ATT	p.L747I	WRN_uc010lvk.2_Missense_Mutation_p.L214I	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	747					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGGGAATATCCTTCAGGATCT	0.343			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
LETM2	137994	broad.mit.edu	37	8	38261959	38261959	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:38261959C>A	uc003xlm.1	+	8	1183	c.1012C>A	c.(1012-1014)CTG>ATG	p.L338M	LETM2_uc011lbn.1_Missense_Mutation_p.L182M|LETM2_uc003xll.1_Missense_Mutation_p.L290M|LETM2_uc003xln.1_Missense_Mutation_p.L182M|LETM2_uc003xlo.1_Missense_Mutation_p.L182M	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	385	Poly-Leu.|LETM1.|Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCTTTTGCTCCTGTCCCGCAC	0.567												
IKBKB	3551	broad.mit.edu	37	8	42179608	42179608	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:42179608G>A	uc003xow.1	+	18	1952	c.1775G>A	c.(1774-1776)CGG>CAG	p.R592Q	IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.R369Q|IKBKB_uc003xox.1_Missense_Mutation_p.R313Q|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.R590Q|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.R533Q	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	592					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAAATGGTACGGCTGCTGCTT	0.537												
CHRNB3	1142	broad.mit.edu	37	8	42586933	42586933	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:42586933G>A	uc003xpi.1	+	5	611	c.483G>A	c.(481-483)CCG>CCA	p.P161P		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	161	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTTTTTCCCGTTCGACCGAC	0.488												
PRKDC	5591	broad.mit.edu	37	8	48743175	48743175	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:48743175G>A	uc003xqi.2	-	62	8445	c.8388C>T	c.(8386-8388)GCC>GCT	p.A2796A	PRKDC_uc003xqj.2_Silent_p.A2796A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2796	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTGGGCCACGGCCTGTAACG	0.532								NHEJ				
SNTG1	54212	broad.mit.edu	37	8	51449300	51449300	+	Silent	SNP	C	C	T	rs35419988		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:51449300C>T	uc010lxy.1	+	12	983	c.612C>T	c.(610-612)TGC>TGT	p.C204C	SNTG1_uc003xqs.1_Silent_p.C204C|SNTG1_uc010lxz.1_Silent_p.C204C|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	204					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGCGATGGTGCGACCTCAGAC	0.473												
PXDNL	137902	broad.mit.edu	37	8	52320800	52320800	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:52320800G>A	uc003xqu.3	-	17	3485	c.3384C>T	c.(3382-3384)TCC>TCT	p.S1128S	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATAAGCCGCGGAGAAGAGCC	0.567												
PXDNL	137902	broad.mit.edu	37	8	52321953	52321953	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:52321953G>A	uc003xqu.3	-	17	2332	c.2231C>T	c.(2230-2232)GCG>GTG	p.A744V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	744					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCAGCGCCGCGCCCCACGT	0.726												
RP1	6101	broad.mit.edu	37	8	55539117	55539117	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:55539117C>A	uc003xsd.1	+	4	2823	c.2675C>A	c.(2674-2676)GCA>GAA	p.A892E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	892					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAACCAGGGCAAATTCTTTA	0.333												
TOX	9760	broad.mit.edu	37	8	59750746	59750746	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:59750746C>T	uc003xtw.1	-	5	1039	c.818G>A	c.(817-819)CGT>CAT	p.R273H		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	273	HMG box.					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTGAGTATCACGAAAGAATAA	0.468												
CHD7	55636	broad.mit.edu	37	8	61769061	61769061	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:61769061G>A	uc003xue.2	+	34	7699	c.7222G>A	c.(7222-7224)GAA>AAA	p.E2408K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2408	Potential.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGAAAAATCGAAATTGAGGC	0.488												
NCOA2	10499	broad.mit.edu	37	8	71071820	71071820	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:71071820A>G	uc003xyn.1	-	10	1206	c.1044T>C	c.(1042-1044)GCT>GCC	p.A348A		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	348					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCGTTTGTGCAGCAACAAGAG	0.413			T	RUNXBP2	AML							
MMP16	4325	broad.mit.edu	37	8	89128759	89128759	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:89128759G>A	uc003yeb.3	-	6	1342	c.1060C>T	c.(1060-1062)CGT>TGT	p.R354C	MMP16_uc003yec.2_Missense_Mutation_p.R354C	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	354	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						ATCTCACGACGAAGAATAGCT	0.433												
CALB1	793	broad.mit.edu	37	8	91094854	91094854	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:91094854G>A	uc003yel.1	-	1	254	c.72C>T	c.(70-72)GAC>GAT	p.D24D	CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	24	1.|EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CACCGTCAGCGTCGAAATGGA	0.502												
TMEM67	91147	broad.mit.edu	37	8	94808178	94808178	+	Missense_Mutation	SNP	G	G	A	rs146130549	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:94808178G>A	uc011lgk.1	+	18	1894	c.1823G>A	c.(1822-1824)CGT>CAT	p.R608H	TMEM67_uc010maw.2_Missense_Mutation_p.R314H|TMEM67_uc003yga.3_Missense_Mutation_p.R527H|TMEM67_uc011lgl.1_Missense_Mutation_p.R7H	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	608					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAGGAAGAACGTTTTGTCACT	0.333												
TSPYL5	85453	broad.mit.edu	37	8	98289649	98289649	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:98289649G>A	uc003yhy.2	-	1	528	c.424C>T	c.(424-426)CGT>TGT	p.R142C		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	142					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GCAGGGCCACGCCGGTTTCCA	0.672												
VPS13B	157680	broad.mit.edu	37	8	100789120	100789120	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:100789120C>T	uc003yiv.2	+	41	7551	c.7440C>T	c.(7438-7440)TGC>TGT	p.C2480C	VPS13B_uc003yiw.2_Silent_p.C2455C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2480					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATCCCTTTGCGTTTCTTTCC	0.458												
FZD6	8323	broad.mit.edu	37	8	104341961	104341961	+	Silent	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:104341961A>G	uc003ylh.2	+	6	1904	c.1620A>G	c.(1618-1620)AAA>AAG	p.K540K	FZD6_uc003ylj.2_Silent_p.K540K|FZD6_uc011lhn.1_Silent_p.K506K|FZD6_uc011lho.1_Silent_p.K235K|FZD6_uc011lhp.1_Silent_p.K485K	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	540	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTAAACACAAAAAGAAGCACT	0.388												
ABRA	137735	broad.mit.edu	37	8	107773549	107773549	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:107773549G>A	uc003ymm.3	-	2	916	c.862C>T	c.(862-864)CGC>TGC	p.R288C		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	288					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCTTTGGGGCGGCCATAGCCC	0.498												
C8orf85	441376	broad.mit.edu	37	8	117950647	117950647	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:117950647G>A	uc003yof.2	+	1	184	c.165G>A	c.(163-165)CTG>CTA	p.L55L		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	55											0						CCAGCCCGCTGCTGGAGGACC	0.627												
EXT1	2131	broad.mit.edu	37	8	119122745	119122745	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:119122745G>T	uc003yok.1	-	1	1314	c.541C>A	c.(541-543)CTC>ATC	p.L181I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	181	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CACAAGTGGAGACTCTGCACT	0.483			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
HAS2	3037	broad.mit.edu	37	8	122641065	122641065	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:122641065C>T	uc003yph.2	-	2	1054	c.516G>A	c.(514-516)ACG>ACA	p.T172T		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	172	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACCAATTGCGTTACGTGTT	0.458												
ANXA13	312	broad.mit.edu	37	8	124714942	124714942	+	Silent	SNP	C	C	T	rs140057297		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:124714942C>T	uc003yqu.2	-	3	199	c.126G>A	c.(124-126)TCG>TCA	p.S42S	ANXA13_uc003yqt.2_Silent_p.S83S	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	42	Annexin 1.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGTCCTGCCCGATAAGATTT	0.448												
FAM91A1	157769	broad.mit.edu	37	8	124786386	124786386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:124786386C>T	uc003yqv.2	+	2	200	c.139C>T	c.(139-141)CGA>TGA	p.R47*	FAM91A1_uc011lik.1_Nonsense_Mutation_p.R47*|FAM91A1_uc011lil.1_Translation_Start_Site	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	47										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAATCAGTTACGATATAGAAA	0.333												
WISP1	8840	broad.mit.edu	37	8	134232870	134232870	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:134232870C>T	uc003yub.2	+	3	472	c.396C>T	c.(394-396)AAC>AAT	p.N132N	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	132	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCTACAACAACGGCCAGTCCT	0.667												
COL22A1	169044	broad.mit.edu	37	8	139890158	139890158	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:139890158C>T	uc003yvd.2	-	3	940	c.493G>A	c.(493-495)GCC>ACC	p.A165T		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	165	Poly-Ala.|VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCGCGGTGGGCTGCCGCCGCG	0.716										HNSCC(7;0.00092)		
CYP11B2	1585	broad.mit.edu	37	8	143996496	143996496	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:143996496G>A	uc003yxk.1	-	3	564	c.561C>T	c.(559-561)GAC>GAT	p.D187D		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	187					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGGGCTGGACGTCCAGGGTCA	0.637									Familial_Hyperaldosteronism_type_I			
GPIHBP1	338328	broad.mit.edu	37	8	144296964	144296964	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:144296964C>T	uc003yxu.1	+	3	333	c.258C>T	c.(256-258)GGC>GGT	p.G86G		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	86	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCTCACATGGCCAGACCTGCA	0.682												
SCRIB	23513	broad.mit.edu	37	8	144874928	144874928	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:144874928C>T	uc003yzp.1	-	30	4134	c.4127G>A	c.(4126-4128)CGC>CAC	p.R1376H	SCRIB_uc003yzn.1_Missense_Mutation_p.R85H|SCRIB_uc003yzo.1_Missense_Mutation_p.R1376H	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1376					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGGGACACGCGCTTAGGGGG	0.692												
SCRIB	23513	broad.mit.edu	37	8	144895815	144895815	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:144895815G>A	uc003yzp.1	-	4	445	c.438C>T	c.(436-438)GAC>GAT	p.D146D	SCRIB_uc003yzo.1_Silent_p.D146D|MIR937_hsa-mir-937|MI0005759_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	146	Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 5.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACTTGCCCACGTCCCCGGGCA	0.637												
OPLAH	26873	broad.mit.edu	37	8	145111052	145111052	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145111052G>A	uc003zar.3	-	15	2176	c.2094C>T	c.(2092-2094)AAC>AAT	p.N698N	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	698							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CAGCCCACCTGTTACTGTCGA	0.652												
SCRT1	83482	broad.mit.edu	37	8	145557017	145557017	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145557017C>T	uc003zbw.1	-	2	989	c.877G>A	c.(877-879)GCG>ACG	p.A293T		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	293	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCATGTGCGCGCGCAGGTTG	0.642												
PPP1R16A	84988	broad.mit.edu	37	8	145725521	145725521	+	Silent	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145725521C>A	uc003zdd.2	+	5	1432	c.519C>A	c.(517-519)CCC>CCA	p.P173P	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Silent_p.P173P|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	173						plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGAACATGCCCTATGACCTGT	0.672												
RECQL4	9401	broad.mit.edu	37	8	145738726	145738726	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145738726G>A	uc003zdj.2	-	15	2370	c.2338C>T	c.(2338-2340)CGG>TGG	p.R780W		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	780	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACATCTGGCCGGTCCAGCCCC	0.716			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
ARHGAP39	80728	broad.mit.edu	37	8	145771085	145771085	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145771085G>A	uc003zdt.1	-	7	2624	c.2069C>T	c.(2068-2070)TCG>TTG	p.S690L	ARHGAP39_uc011llk.1_Missense_Mutation_p.S690L|ARHGAP39_uc003zds.1_Missense_Mutation_p.S690L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	690					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GTCCGTCTCCGAGGAGGGCTT	0.652												
KIAA0020	9933	broad.mit.edu	37	9	2831330	2831330	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:2831330G>A	uc003zhp.1	-	6	627	c.531C>T	c.(529-531)CAC>CAT	p.H177H	KIAA0020_uc010mhc.1_Silent_p.H176H|KIAA0020_uc003zhq.1_Silent_p.H177H	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	177	Pumilio 1.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		GAGTTGAATCGTGTGCAAATG	0.343												
RFX3	5991	broad.mit.edu	37	9	3293131	3293131	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:3293131C>A	uc003zhr.2	-	7	989	c.677G>T	c.(676-678)GGA>GTA	p.G226V	RFX3_uc010mhd.2_Missense_Mutation_p.G226V|RFX3_uc003zhs.1_Missense_Mutation_p.G226V|RFX3_uc003zht.1_Missense_Mutation_p.G226V|RFX3_uc010mhe.1_Missense_Mutation_p.G201V	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	226	RFX-type winged-helix.				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TATTAATTTTCCAAAAGAGGC	0.408												
C9orf93	203238	broad.mit.edu	37	9	15846708	15846708	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:15846708C>T	uc003zmd.2	+	22	3591	c.3276C>T	c.(3274-3276)TCC>TCT	p.S1092S	C9orf93_uc003zme.2_Silent_p.S1007S|C9orf93_uc011lmu.1_Silent_p.S1100S|C9orf93_uc003zmf.1_Silent_p.S400S	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1092	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AGAGTCTCTCCGAGGCAAAGA	0.438												
C9orf23	138716	broad.mit.edu	37	9	34610959	34610959	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:34610959C>T	uc003zuu.2	-	2	616	c.335G>A	c.(334-336)CGC>CAC	p.R112H	C9orf23_uc003zuv.2_Missense_Mutation_p.R112H	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	hypothetical protein LOC138716	112							nucleic acid binding				0	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)		AGGCACATGGCGGCGCACTGT	0.647												
RUSC2	9853	broad.mit.edu	37	9	35546877	35546877	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35546877A>G	uc003zww.2	+	2	614	c.359A>G	c.(358-360)GAC>GGC	p.D120G	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.D120G	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	120						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTATGATGACAGCATTGGT	0.592												
RUSC2	9853	broad.mit.edu	37	9	35547005	35547005	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35547005C>T	uc003zww.2	+	2	742	c.487C>T	c.(487-489)CGC>TGC	p.R163C	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R163C	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	163						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGACAACACGCAGTCGGGC	0.622												
FRMPD1	22844	broad.mit.edu	37	9	37746671	37746671	+	Missense_Mutation	SNP	G	G	A	rs146303578		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:37746671G>A	uc004aag.1	+	16	4686	c.4642G>A	c.(4642-4644)GAC>AAC	p.D1548N	FRMPD1_uc004aah.1_Missense_Mutation_p.D1548N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1548						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		AGGCTACCACGACCTGAGTGT	0.607												
PGM5	5239	broad.mit.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
TJP2	9414	broad.mit.edu	37	9	71863051	71863051	+	Missense_Mutation	SNP	G	G	A	rs139276234		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:71863051G>A	uc004ahe.2	+	19	2991	c.2791G>A	c.(2791-2793)GCC>ACC	p.A931T	TJP2_uc011lrs.1_Missense_Mutation_p.A908T|TJP2_uc004ahd.2_Missense_Mutation_p.A931T|TJP2_uc004ahf.2_Missense_Mutation_p.A931T|TJP2_uc011lru.1_Missense_Mutation_p.A935T|TJP2_uc011lrv.1_Missense_Mutation_p.A953T|TJP2_uc010mom.1_Missense_Mutation_p.A91T	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	931					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						TGAAGGAGGCGCCTACACTGA	0.622												
TRPM3	80036	broad.mit.edu	37	9	73254016	73254016	+	Missense_Mutation	SNP	C	C	T	rs143760929		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:73254016C>T	uc004aid.2	-	11	1785	c.1541G>A	c.(1540-1542)CGT>CAT	p.R514H	TRPM3_uc004ahu.2_Missense_Mutation_p.R344H|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Missense_Mutation_p.R386H|TRPM3_uc004ahx.2_Missense_Mutation_p.R361H|TRPM3_uc004ahy.2_Missense_Mutation_p.R386H|TRPM3_uc004ahz.2_Missense_Mutation_p.R361H|TRPM3_uc004aia.2_Missense_Mutation_p.R361H|TRPM3_uc004aib.2_Missense_Mutation_p.R361H|TRPM3_uc004aic.2_Missense_Mutation_p.R514H|TRPM3_uc010mor.2_Missense_Mutation_p.R514H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	539	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGTGAGAAAACGGTGCATGCT	0.413												
RORB	6096	broad.mit.edu	37	9	77249562	77249562	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:77249562A>C	uc004aji.2	+	3	191	c.142A>C	c.(142-144)AGC>CGC	p.S48R	RORB_uc004ajh.2_Missense_Mutation_p.S37R	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	48	Nuclear receptor.				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CTTTAGGAGGAGCCAGCAGAA	0.423												
PRUNE2	158471	broad.mit.edu	37	9	79328528	79328528	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:79328528G>A	uc010mpk.2	-	7	990	c.866C>T	c.(865-867)CCG>CTG	p.P289L		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	289					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTGTCGTCTCGGCTGCTGCTC	0.498												
TLE4	7091	broad.mit.edu	37	9	82333695	82333695	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:82333695G>A	uc004ald.2	+	16	2323	c.1474G>A	c.(1474-1476)GAC>AAC	p.D492N	TLE4_uc004alc.2_Missense_Mutation_p.D467N|TLE4_uc010mpr.2_Missense_Mutation_p.D346N|TLE4_uc004ale.2_Missense_Mutation_p.D104N|TLE4_uc011lsq.1_Missense_Mutation_p.D435N|TLE4_uc010mps.2_Missense_Mutation_p.D391N|TLE4_uc004alf.2_Missense_Mutation_p.D406N	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						TTTTCCACCCGACGCCCTCAT	0.562												
TLE1	7088	broad.mit.edu	37	9	84226807	84226807	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:84226807G>A	uc004aly.2	-	13	1572	c.1131C>T	c.(1129-1131)CAC>CAT	p.H377H	TLE1_uc004alz.2_Silent_p.H387H|TLE1_uc011lsr.1_Silent_p.H362H|TLE1_uc004ama.1_Silent_p.H376H|TLE1_uc011lss.1_Silent_p.H303H	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	377	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TCATGCCAGCGTGGGGGACCA	0.642												
FLJ46321	389763	broad.mit.edu	37	9	84606168	84606168	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:84606168A>T	uc004amn.2	+	4	830	c.783A>T	c.(781-783)CAA>CAT	p.Q261H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	261						integral to membrane					0						CCAGCCTCCAACCTGAAGCCA	0.507												
RASEF	158158	broad.mit.edu	37	9	85637259	85637259	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:85637259G>A	uc004amo.1	-	3	922	c.661C>T	c.(661-663)CGG>TGG	p.R221W		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	221	Potential.				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						ACGTCTTTCCGTGTCTTATGT	0.303												
FANCC	2176	broad.mit.edu	37	9	97933362	97933362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:97933362G>A	uc004avh.2	-	6	782	c.520C>T	c.(520-522)CGA>TGA	p.R174*	FANCC_uc004avi.3_Nonsense_Mutation_p.R174*|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	174					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				AACACCTACCGCCTTTGAGTG	0.353			D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
TBC1D2	55357	broad.mit.edu	37	9	100983199	100983199	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:100983199C>T	uc011lvb.1	-	6	1470	c.1290G>A	c.(1288-1290)ACG>ACA	p.T430T	TBC1D2_uc004ayq.2_Silent_p.T430T|TBC1D2_uc004ayr.2_Silent_p.T212T|TBC1D2_uc004ayo.3_Silent_p.T430T	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	430	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGGGGTGCGTGAAGTCCT	0.607												
TEX10	54881	broad.mit.edu	37	9	103070934	103070934	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:103070934C>T	uc004bas.2	-	13	2528	c.2313G>A	c.(2311-2313)ACG>ACA	p.T771T	TEX10_uc011lvf.1_Silent_p.T610T|TEX10_uc011lvg.1_Silent_p.T774T	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	771						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CACAGCCAGCCGTGCTGTCAG	0.443												
ABCA1	19	broad.mit.edu	37	9	107555572	107555572	+	Missense_Mutation	SNP	C	C	T	rs139363994	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:107555572C>T	uc004bcl.2	-	41	5829	c.5516G>A	c.(5515-5517)CGC>CAC	p.R1839H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1839					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGACACAAAGCGATTCTCCCC	0.483												
ABCA1	19	broad.mit.edu	37	9	107583747	107583747	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:107583747C>T	uc004bcl.2	-	20	3182	c.2869G>A	c.(2869-2871)GCC>ACC	p.A957T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	957	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGATGTAGGCGGTGCCCGAG	0.532												
ZNF462	58499	broad.mit.edu	37	9	109689704	109689704	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:109689704G>A	uc004bcz.2	+	3	3800	c.3511G>A	c.(3511-3513)GCC>ACC	p.A1171T	ZNF462_uc010mto.2_Missense_Mutation_p.A1019T|ZNF462_uc004bda.2_Missense_Mutation_p.A1019T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1171					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1171T(1)		ovary(5)	5						CCGGCCACCCGCCCCCATACA	0.557												
C9orf6	54942	broad.mit.edu	37	9	111698719	111698719	+	Splice_Site	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:111698719T>C	uc004bdn.2	+	3	355	c.261_splice	c.e3+2	p.R87_splice	IKBKAP_uc004bdm.3_5'Flank|IKBKAP_uc011lwc.1_5'Flank|IKBKAP_uc010mtq.2_5'Flank|C9orf6_uc010mtr.2_Intron	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942						glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)		TTTAAGCGGGTATGTTCCTGT	0.373												
UGCG	7357	broad.mit.edu	37	9	114691946	114691946	+	Missense_Mutation	SNP	C	C	T	rs62570269		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:114691946C>T	uc004bft.2	+	6	1015	c.725C>T	c.(724-726)GCG>GTG	p.A242V		NM_003358	NP_003349	Q16739	CEGT_HUMAN	ceramide glucosyltransferase	242	Lumenal (Potential).				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	p.A242A(1)		ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATGGCCAAAGCGATAGCTGAC	0.363												
SUSD1	64420	broad.mit.edu	37	9	114825301	114825301	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:114825301G>A	uc004bfu.2	-	13	1807	c.1766C>T	c.(1765-1767)CCG>CTG	p.P589L	SUSD1_uc010mui.2_Missense_Mutation_p.P589L|SUSD1_uc010muj.2_Missense_Mutation_p.P589L	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	589	Extracellular (Potential).					integral to membrane	calcium ion binding				0						TTCTACTTCCGGGAGGGGAGG	0.463												
TNC	3371	broad.mit.edu	37	9	117825395	117825395	+	Silent	SNP	C	C	T	rs150370072		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:117825395C>T	uc004bjj.3	-	13	4196	c.3834G>A	c.(3832-3834)ACG>ACA	p.T1278T	TNC_uc010mvf.2_Silent_p.T1278T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1278	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTCCATCTGGCGTGGTCCAGT	0.537												
DAB2IP	153090	broad.mit.edu	37	9	124544646	124544646	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:124544646C>T	uc004bln.2	+	16	3424	c.3355C>T	c.(3355-3357)CGC>TGC	p.R1119C	DAB2IP_uc004blo.2_Missense_Mutation_p.R1023C|DAB2IP_uc004blp.2_Missense_Mutation_p.R552C	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	1147	Potential.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CGCCAATGCCCGCCTCATGAG	0.572												
NDUFA8	4702	broad.mit.edu	37	9	124910470	124910470	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:124910470C>T	uc004blv.2	-	3	444	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	101	CHCH 2.|C-X9-C motif 4.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	CTGCTGTTTGCGACAGTGACG	0.483												
OR1K1	392392	broad.mit.edu	37	9	125562441	125562441	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:125562441G>A	uc011lze.1	+	1	40	c.40G>A	c.(40-42)GTT>ATT	p.V14I		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AATCTCATTCGTTTTATTGGG	0.522												
PPP6C	5537	broad.mit.edu	37	9	127911974	127911974	+	Missense_Mutation	SNP	G	G	A	rs144776498		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:127911974G>A	uc004bpg.3	-	7	1117	c.896C>T	c.(895-897)ACG>ATG	p.T299M	PPP6C_uc010mwv.2_Missense_Mutation_p.T336M|PPP6C_uc010mww.2_Missense_Mutation_p.T277M|PPP6C_uc011lzr.1_Missense_Mutation_p.T152M	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	299					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						TGGCGTTGTCGTTCTGGGAGG	0.428												
ZBTB34	403341	broad.mit.edu	37	9	129642360	129642360	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:129642360C>T	uc004bqm.3	+	2	767	c.670C>T	c.(670-672)CTA>TTA	p.L224L		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCAAGGAGACCTATTGGTGAG	0.582												
TOR2A	27433	broad.mit.edu	37	9	130496636	130496636	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:130496636A>G	uc004brs.3	-	2	414	c.359T>C	c.(358-360)GTG>GCG	p.V120A	TOR2A_uc004brt.3_Missense_Mutation_p.V120A|TOR2A_uc004brw.3_Missense_Mutation_p.V120A|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	120					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						AAAGTGGTGCACGCGGGGGCT	0.647											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NAIF1	203245	broad.mit.edu	37	9	130829150	130829150	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:130829150G>A	uc004bta.2	-	1	450	c.231C>T	c.(229-231)ACC>ACT	p.T77T	NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	77					apoptosis|induction of apoptosis	nucleus					0						GACGGACCTCGGTCTTGAGGT	0.692												
SLC27A4	10999	broad.mit.edu	37	9	131117710	131117710	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:131117710T>C	uc004but.2	+	11	1780	c.1496T>C	c.(1495-1497)CTG>CCG	p.L499P	SLC27A4_uc004buu.2_Missense_Mutation_p.L93P	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	499					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						CTGGGCTACCTGTACTTCCGA	0.642												
NUP188	23511	broad.mit.edu	37	9	131765224	131765224	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:131765224C>T	uc004bws.1	+	37	4288	c.4266C>T	c.(4264-4266)TTC>TTT	p.F1422F	NUP188_uc004bwu.2_Silent_p.F765F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1422					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CCCTGGACTTCGTGGGTGTCC	0.592												
NUP188	23511	broad.mit.edu	37	9	131768861	131768861	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:131768861G>A	uc004bws.1	+	44	5176	c.5154G>A	c.(5152-5154)CCG>CCA	p.P1718P		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1718					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TCCCCTCGCCGCAGGGCAAGT	0.612											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LAMC3	10319	broad.mit.edu	37	9	133942350	133942350	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:133942350G>A	uc004caa.1	+	14	2449	c.2351G>A	c.(2350-2352)CGG>CAG	p.R784Q		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	784	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACACAGGGCGGCGCTGTGAG	0.642												
RAPGEF1	2889	broad.mit.edu	37	9	134455666	134455666	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:134455666G>A	uc004cbc.2	-	23	3197	c.3067C>T	c.(3067-3069)CGC>TGC	p.R1023C	RAPGEF1_uc004cbb.2_Missense_Mutation_p.R1041C	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	1023	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGGAAGCAGCGCATGCTGTCG	0.632												
CEL	1056	broad.mit.edu	37	9	135939797	135939797	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:135939797G>A	uc010naa.1	+	2	98	c.82G>A	c.(82-84)GCC>ACC	p.A28T		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	25	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCAGCTGGGCGCCGTGTACAC	0.652												
BRD3	8019	broad.mit.edu	37	9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:136899859C>T	uc004cew.2	-	11	2217	c.2029G>A	c.(2029-2031)GGG>AGG	p.G677R		NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	677	Potential.|Ser-rich.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCAGCTGCCCGCTGACATCC	0.617			T	NUT|C15orf55	lethal midline carcinoma of young people							
CAMSAP1	157922	broad.mit.edu	37	9	138713788	138713788	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:138713788G>A	uc004cgr.3	-	11	2719	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	CAMSAP1_uc004cgq.3_Missense_Mutation_p.R797C|CAMSAP1_uc010nbg.2_Missense_Mutation_p.R629C	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	907						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCTTCAGGCGCTGCCTTGCC	0.622												
UBAC1	10422	broad.mit.edu	37	9	138825253	138825253	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:138825253C>T	uc004cgt.2	-	10	1429	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H	UBAC1_uc004cgs.1_Intron|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	404						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CACCTACGTGCGATTTAGTGT	0.572												
SEC16A	9919	broad.mit.edu	37	9	139341370	139341370	+	Silent	SNP	A	A	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:139341370A>C	uc004chx.2	-	28	7038	c.6729T>G	c.(6727-6729)ACT>ACG	p.T2243T	SEC16A_uc004chp.2_RNA|SEC16A_uc004chq.2_Silent_p.T106T|SEC16A_uc011mea.1_Silent_p.T103T|SEC16A_uc004chr.2_Silent_p.T271T|SEC16A_uc004chs.2_Silent_p.T83T|SEC16A_uc004cht.2_Silent_p.T293T|SEC16A_uc004chu.2_Silent_p.T450T|SEC16A_uc004chv.3_Silent_p.T1633T|SEC16A_uc004chw.2_Silent_p.T2243T|SEC16A_uc010nbn.2_Silent_p.T2265T	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	2065	Required for interaction with SEC23A.|Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTCCCTGCCAGTCCCGTCTG	0.627												
ABCA2	20	broad.mit.edu	37	9	139903997	139903997	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:139903997G>A	uc011mem.1	-	43	6875	c.6727C>T	c.(6727-6729)CAC>TAC	p.H2243Y	ABCA2_uc011mel.1_Missense_Mutation_p.H2244Y|ABCA2_uc004ckl.1_Missense_Mutation_p.H2174Y|ABCA2_uc004ckm.1_Missense_Mutation_p.H2274Y	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2243	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCTGTGTGATGTCAGC	0.652												
COBRA1	25920	broad.mit.edu	37	9	140161507	140161507	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140161507T>C	uc004cmm.3	+	9	1410	c.1207T>C	c.(1207-1209)TAT>CAT	p.Y403H		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	403					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CCCAGTCTCATATCCAAACAC	0.567												
ENTPD8	377841	broad.mit.edu	37	9	140332630	140332630	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140332630G>T	uc004cmw.2	-	2	292	c.108C>A	c.(106-108)CTC>CTA	p.L36L	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.L36L|ENTPD8_uc004cmy.2_Silent_p.L36L	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	36	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGTGGGCAGGAGCACGCTGG	0.677												
PNPLA7	375775	broad.mit.edu	37	9	140417285	140417285	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140417285C>T	uc004cnf.2	-	8	1034	c.697G>A	c.(697-699)GTC>ATC	p.V233I	PNPLA7_uc011mfa.1_5'UTR|PNPLA7_uc010ncj.1_Missense_Mutation_p.V258I	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	233	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGGACGGAGACCGTTTTGTAA	0.592												
CACNA1B	774	broad.mit.edu	37	9	140777293	140777293	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140777293G>A	uc004cog.2	+	3	633	c.488G>A	c.(487-489)CGG>CAG	p.R163Q	uc004cof.1_RNA	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	163	Cytoplasmic (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTTACCTGCGGAACGGCTGG	0.582												
TLR8	51311	broad.mit.edu	37	X	12937805	12937805	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:12937805G>A	uc004cve.2	+	2	714	c.646G>A	c.(646-648)GTG>ATG	p.V216M	TLR8_uc004cvd.2_Missense_Mutation_p.V234M	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	216	LRR 4.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TCTTTCACACGTGCCACCCAA	0.368												
CDKL5	6792	broad.mit.edu	37	X	18622777	18622777	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:18622777A>G	uc004cym.2	+	12	1986	c.1733A>G	c.(1732-1734)GAC>GGC	p.D578G	CDKL5_uc004cyn.2_Missense_Mutation_p.D578G	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	578					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GAGCACATGGACAGTAGCCAT	0.498												
GPR64	10149	broad.mit.edu	37	X	19049103	19049103	+	Silent	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:19049103T>C	uc004cyx.2	-	9	521	c.357A>G	c.(355-357)TCA>TCG	p.S119S	GPR64_uc004cyy.2_Silent_p.S116S|GPR64_uc004cyz.2_Silent_p.S105S|GPR64_uc004czb.2_Silent_p.S119S|GPR64_uc004czc.2_Silent_p.S103S|GPR64_uc004czd.2_Silent_p.S95S|GPR64_uc004cze.2_Silent_p.S89S|GPR64_uc004czf.2_Silent_p.S81S|GPR64_uc004cza.2_Silent_p.S97S|GPR64_uc004cyw.2_Silent_p.S103S|GPR64_uc010nfj.2_Silent_p.S89S	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	119	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					AGAACTAACCTGAGTCATTGC	0.393												
PHEX	5251	broad.mit.edu	37	X	22115094	22115094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:22115094C>T	uc004dah.2	+	8	1074	c.871C>T	c.(871-873)CGA>TGA	p.R291*	PHEX_uc011mjr.1_Nonsense_Mutation_p.R291*|PHEX_uc011mjs.1_Nonsense_Mutation_p.R194*	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	291	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ACATGAAAACCGAACCAGCGA	0.358												
DMD	1756	broad.mit.edu	37	X	32366534	32366534	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:32366534T>C	uc004dda.1	-	38	5681	c.5437A>G	c.(5437-5439)AAT>GAT	p.N1813D	DMD_uc004dcw.2_Missense_Mutation_p.N469D|DMD_uc004dcx.2_Missense_Mutation_p.N472D|DMD_uc004dcz.2_Missense_Mutation_p.N1690D|DMD_uc004dcy.1_Missense_Mutation_p.N1809D|DMD_uc004ddb.1_Missense_Mutation_p.N1805D|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1813	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATATCTTTATTGAAGTCTTCC	0.348												
SRPX	8406	broad.mit.edu	37	X	38008990	38008990	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:38008990C>T	uc004ddy.1	-	10	1455	c.1369G>A	c.(1369-1371)GAA>AAA	p.E457K	SRPX_uc004ddz.1_Missense_Mutation_p.E437K|SRPX_uc011mkh.1_Missense_Mutation_p.E398K|SRPX_uc011mki.1_3'UTR	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	457					cell adhesion	cell surface|membrane					0						TGGCTCATTTCGGCTTGTAGG	0.468												
GPR82	27197	broad.mit.edu	37	X	41586424	41586424	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:41586424T>C	uc004dfs.1	+	3	385	c.145T>C	c.(145-147)TCA>CCA	p.S49P	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.S49P|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TAAAAAAACATCAACGCACAT	0.378												
CACNA1F	778	broad.mit.edu	37	X	49066136	49066136	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:49066136C>A	uc004dnb.2	-	41	4869	c.4807G>T	c.(4807-4809)GGG>TGG	p.G1603W	CACNA1F_uc010nip.2_Missense_Mutation_p.G1592W	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1603	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CCTAGTAGCCCTTTTTCTTTC	0.592												
NUDT10	170685	broad.mit.edu	37	X	51076039	51076039	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:51076039G>A	uc004dph.2	+	2	442	c.222G>A	c.(220-222)GGG>GGA	p.G74G	NUDT10_uc004dpi.3_Silent_p.G74G	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	74	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					GAGTCAAGGGGAAGTTAGGCC	0.657												
MAGEH1	28986	broad.mit.edu	37	X	55479394	55479394	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:55479394A>G	uc004dum.2	+	1	857	c.587A>G	c.(586-588)GAC>GGC	p.D196G		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	196	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TGTAATTATGACTGGGATTCG	0.517												
MTMR8	55613	broad.mit.edu	37	X	63444967	63444967	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:63444967G>A	uc011mou.1	-	10	1757	c.1689C>T	c.(1687-1689)GCC>GCT	p.A563A	ASB12_uc004dvp.1_Silent_p.A179A|ASB12_uc004dvq.1_Silent_p.A188A|ASB12_uc004dvr.1_Silent_p.A188A	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CGTAGACTGCGGCCAAATAGA	0.562												
SLC7A3	84889	broad.mit.edu	37	X	70147355	70147355	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:70147355C>T	uc004dyn.2	-	7	1320	c.1162G>A	c.(1162-1164)GTG>ATG	p.V388M	SLC7A3_uc004dyo.2_Missense_Mutation_p.V388M	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	388	Helical; Name=9; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGAGACCACGGTGGCTATG	0.537												
IL2RG	3561	broad.mit.edu	37	X	70329102	70329102	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:70329102G>A	uc004dyw.1	-	5	747	c.733C>T	c.(733-735)CAC>TAC	p.H245Y	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.P6L|IL2RG_uc004dyx.1_Missense_Mutation_p.H55Y	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	245	Extracellular (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CTCCCCCAGTGGATTGGGTGG	0.517									Severe_Combined_Immunodeficiency_X-linked			
ZNF711	7552	broad.mit.edu	37	X	84526109	84526109	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:84526109A>G	uc004eeo.2	+	9	1908	c.1561A>G	c.(1561-1563)AAG>GAG	p.K521E	ZNF711_uc004eep.2_Missense_Mutation_p.K521E|ZNF711_uc004eeq.2_Missense_Mutation_p.K567E|ZNF711_uc011mqy.1_Missense_Mutation_p.K120E	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	521	C2H2-type 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						TTCTGAACTCAAGAAACATAT	0.403												
PCDH19	57526	broad.mit.edu	37	X	99551849	99551849	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:99551849C>T	uc010nmz.2	-	6	4549	c.2873G>A	c.(2872-2874)CGG>CAG	p.R958Q	PCDH19_uc004efw.3_Missense_Mutation_p.R910Q|PCDH19_uc004efx.3_Missense_Mutation_p.R911Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	958	Cytoplasmic (Potential).		R -> Q.		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GCATTCTTCCCGGCAATGAAA	0.483												
SRPX2	27286	broad.mit.edu	37	X	99920543	99920543	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:99920543C>T	uc004egb.2	+	7	1150	c.670C>T	c.(670-672)CGG>TGG	p.R224W		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	224	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						GGTGACACTTCGGGGCCCTGA	0.537												
ARMCX6	54470	broad.mit.edu	37	X	100871447	100871447	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:100871447T>C	uc004ehx.2	-	3	509	c.164A>G	c.(163-165)GAG>GGG	p.E55G	ARMCX6_uc004ehy.2_Missense_Mutation_p.E55G	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	55						integral to membrane					0						AATATCAGGctcctcctcatc	0.358												
GPRASP2	114928	broad.mit.edu	37	X	101971622	101971622	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:101971622C>T	uc004ejk.2	+	4	3159	c.1825C>T	c.(1825-1827)CGG>TGG	p.R609W	GPRASP2_uc004ejl.2_Missense_Mutation_p.R609W|GPRASP2_uc004ejm.2_Missense_Mutation_p.R609W|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	609						cytoplasm	protein binding			ovary(1)	1						GGACAAAATTCGGGATCCTTT	0.383												
VSIG1	340547	broad.mit.edu	37	X	107320332	107320332	+	Silent	SNP	C	C	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:107320332C>T	uc004eno.2	+	7	1046	c.885C>T	c.(883-885)GAC>GAT	p.D295D	VSIG1_uc011msk.1_Silent_p.D331D	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	295	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CAAGAGAAGACGCTACCCAAC	0.448												
ZCCHC16	340595	broad.mit.edu	37	X	111698774	111698774	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:111698774G>A	uc004epo.1	+	3	1259	c.818G>A	c.(817-819)CGC>CAC	p.R273H		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	273							nucleic acid binding|zinc ion binding			ovary(1)	1						AAACGAGCCCGCCAGCAAGAA	0.552												
THOC2	57187	broad.mit.edu	37	X	122799589	122799589	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:122799589G>A	uc004etu.2	-	12	1322	c.1290C>T	c.(1288-1290)GAC>GAT	p.D430D	THOC2_uc011muh.1_Silent_p.D351D|THOC2_uc011mui.1_Silent_p.D315D	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	430					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TATTGAACACGTCTCTCCTCA	0.423												
ODZ1	10178	broad.mit.edu	37	X	123518350	123518350	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:123518350T>C	uc004euj.2	-	29	6474	c.6410A>G	c.(6409-6411)GAC>GGC	p.D2137G	ODZ1_uc011muj.1_Missense_Mutation_p.D2143G|ODZ1_uc010nqy.2_Missense_Mutation_p.D2144G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2137	Extracellular (Potential).			MVICD -> HGNMC (in Ref. 1; AAF04723).	immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TACCCTTATGTCACATATTAC	0.408												
SMARCA1	6594	broad.mit.edu	37	X	128615123	128615123	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:128615123G>A	uc004eun.3	-	18	2370	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	SMARCA1_uc004eup.3_Missense_Mutation_p.R741C|SMARCA1_uc011muk.1_Missense_Mutation_p.R753C|SMARCA1_uc011mul.1_Missense_Mutation_p.R741C	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	753					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						TTTGCTTTGCGTTCTCGTTTA	0.418												
SASH3	54440	broad.mit.edu	37	X	128925043	128925043	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:128925043G>A	uc011mun.1	+	4	610	c.428G>A	c.(427-429)CGC>CAC	p.R143H	SASH3_uc004euu.2_Missense_Mutation_p.R143H|SASH3_uc011muo.1_Missense_Mutation_p.R60H	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	143										ovary(2)|pancreas(1)	3						GTGCTCAGCCGCCAGGCATCA	0.617												
HS6ST2	90161	broad.mit.edu	37	X	132090966	132090966	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:132090966G>A	uc011mve.1	-	3	1233	c.817C>T	c.(817-819)CGG>TGG	p.R273W	HS6ST2_uc011mvb.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvc.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvd.1_Missense_Mutation_p.R273W	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	273	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTTCCCGCTTACCCGGC	0.652												
MCF2	4168	broad.mit.edu	37	X	138713596	138713596	+	Silent	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:138713596G>A	uc004fau.2	-	3	540	c.246C>T	c.(244-246)GGC>GGT	p.G82G	MCF2_uc004fav.2_Silent_p.G82G|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Silent_p.G82G|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Silent_p.G227G|MCF2_uc004faw.2_Silent_p.G142G|MCF2_uc011mwo.1_Silent_p.G142G	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	82	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ACTGCAAGGTGCCGCCTAACT	0.388												
ATP2B3	492	broad.mit.edu	37	X	152823744	152823744	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:152823744G>T	uc004fht.1	+	15	2734	c.2608G>T	c.(2608-2610)GGT>TGT	p.G870C	ATP2B3_uc004fhs.1_Missense_Mutation_p.G870C|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	870	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTTCACAGGTGCCTGCAT	0.567												
AVPR2	554	broad.mit.edu	37	X	153171113	153171113	+	Silent	SNP	G	G	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:153171113G>T	uc004fjh.3	+	2	224	c.153G>T	c.(151-153)GTG>GTT	p.V51V	AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Silent_p.V51V	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	51	Helical; Name=1; (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGTGGCTGTGGCCCTGAGCA	0.697												
F8	2157	broad.mit.edu	37	X	154157611	154157611	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:154157611G>A	uc004fmt.2	-	14	4625	c.4454C>T	c.(4453-4455)GCC>GTC	p.A1485V		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1485	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGAATTTGTGGCACTTGTCCC	0.423												
USP9Y	8287	broad.mit.edu	37	Y	14968300	14968300	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrY:14968300G>A	uc004fst.1	+	43	8045	c.7100G>A	c.(7099-7101)AGA>AAA	p.R2367K	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	2367					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CCAGATGACAGAGATGGGCTG	0.313												
NLGN4Y	22829	broad.mit.edu	37	Y	16941639	16941639	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrY:16941639G>A	uc004ftg.2	+	5	1093	c.841G>A	c.(841-843)GGC>AGC	p.G281S	NLGN4Y_uc004fte.2_Missense_Mutation_p.G113S|NLGN4Y_uc011nas.1_Missense_Mutation_p.G301S|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.G281S	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	281	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CATTCAGAGCGGCACTGCCCT	0.527												
ARHGEF11	9826	broad.mit.edu	37	1	156918293	156918294	+	Splice_Site	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156918292_156918293T>TG	uc001fqo.3	-	22	2846	c.1806_splice	c.e22-1	p.S602_splice	ARHGEF11_uc010phu.2_Splice_Site_p.S18_splice|ARHGEF11_uc001fqn.3_Splice_Site_p.S642_splice|ARHGEF11_uc001fqp.1_Intron	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	602					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCGTGAACTGGGGGGAAGGG	0.569												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
IL1RL1	9173	broad.mit.edu	37	2	102959497	102959498	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:102959496_102959497G>GA	uc002tbu.1	+	7	954	c.683_splice	c.e7-1	p.G228_splice	IL1RL1_uc010ywa.2_Splice_Site_p.G111_splice|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Splice_Site_p.G228_splice	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	228	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCCCTCTAGGAAAAAACGCAA	0.386												
NEIL3	55247	broad.mit.edu	37	4	178256979	178256979	+	Splice_Site	DEL	A	A	-	rs35737622	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:178256978_178256978TA>T	uc003iut.2	+	3	530	c.413_splice	c.e3+2	p.R138_splice	NEIL3_uc010irs.3_Splice_Site_p.R41_splice	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	138					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGAACTCAGGTAAAAAAAATT	0.333								Base excision repair (BER), DNA glycosylases				
GRB10	2887	broad.mit.edu	37	7	50771608	50771608	+	Splice_Site	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome			
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma							
RUSC2	9853	broad.mit.edu	37	9	35555056	35555056	+	Splice_Site	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35555055_35555055AG>A	uc003zww.3	+	3	2270	c.2015_splice	c.e3-2	p.G672_splice	RUSC2_uc010mkq.3_Splice_Site|RUSC2_uc003zwx.4_Splice_Site_p.G672_splice	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	672						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTTGCTACAGGGGGTGGCA	0.567												
PTPN3	5774	broad.mit.edu	37	9	112216857	112216859	+	Splice_Site	DEL	ACA	ACA	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:112216856_112216858TACA>T	uc004bed.2	-	5	402	c.290_splice	c.e5-1	p.G97_splice	PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.G97_splice|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.4_3'UTR	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	97	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGAAACCTCCTACAACATTTTTC	0.350												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456517	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:115456515_115456516T>TA	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGAG	0.347												
MYOF	26509	broad.mit.edu	37	10	95113648	95113649	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:95113647_95113648T>TA	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAGG	0.347												
SORBS1	10580	broad.mit.edu	37	10	97078078	97078079	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:97078077_97078078C>CA	uc001kkp.3	-	30	3856	c.3811_splice	c.e30+1	p.G1271_splice	SORBS1_uc001kkk.3_Splice_Site_p.G527_splice|SORBS1_uc001kkl.3_Splice_Site_p.G615_splice|SORBS1_uc001kkn.3_Splice_Site_p.G778_splice|SORBS1_uc001kkm.3_Splice_Site_p.G813_splice|SORBS1_uc001kko.3_Splice_Site_p.G1130_splice|SORBS1_uc001kkq.3_Splice_Site_p.G884_splice|SORBS1_uc001kkr.3_Splice_Site_p.G719_splice|SORBS1_uc001kks.3_Splice_Site_p.G663_splice|SORBS1_uc001kkt.3_Splice_Site|SORBS1_uc001kku.3_Splice_Site_p.G760_splice|SORBS1_uc001kkv.3_Splice_Site_p.G795_splice|SORBS1_uc001kkw.3_Splice_Site_p.G1245_splice|SORBS1_uc010qoe.2_Splice_Site_p.G728_splice	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1271	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGATTCTTACCAACAAACCATC	0.406												
MEIS3	56917	broad.mit.edu	37	19	47918126	47918127	+	Splice_Site	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:47918125_47918126T>TG	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCGTGGACCTGGGGGGGCACC	0.683												
HYI	81888	broad.mit.edu	37	1	43919088	43919088	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:43919088delC	uc001cjo.2	-	2	450	c.280delG	c.(280-282)GTGfs	p.V94fs	HYI_uc001cjm.2_Frame_Shift_Del_p.V21fs|HYI_uc001cjn.2_Frame_Shift_Del_p.V94fs|HYI_uc001cjp.2_Frame_Shift_Del_p.V21fs	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	94							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCATACCGCACGGCCTGCTCC	0.677												
NEXN	91624	broad.mit.edu	37	1	78392424	78392424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:78392424delA	uc001dic.3	+	8	1008	c.711delA	c.(709-711)GCAfs	p.A237fs	NEXN_uc001dia.3_Frame_Shift_Del_p.A223fs|NEXN_uc009wcb.1_Frame_Shift_Del_p.A159fs|NEXN_uc001dib.3_Frame_Shift_Del_p.A173fs|NEXN_uc001did.1_Frame_Shift_Del_p.A147fs|NEXN_uc001dif.1_Frame_Shift_Del_p.A129fs	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	237	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		AAAGTGAAGCAAAAAAAGAAT	0.358												
VEZT	55591	broad.mit.edu	37	12	95663938	95663939	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:95663938_95663939insT	uc001tdz.2	+	6	927_928	c.822_823insT	c.(820-825)AGGCTAfs	p.R274fs	VEZT_uc009zsy.1_Frame_Shift_Ins_p.R120fs|VEZT_uc001tdr.2_Frame_Shift_Ins_p.R116fs|VEZT_uc001tds.2_Frame_Shift_Ins_p.R226fs|VEZT_uc001tdt.2_Frame_Shift_Ins_p.R230fs|VEZT_uc009zsz.1_Frame_Shift_Ins_p.R278fs|VEZT_uc001tdv.2_Frame_Shift_Ins_p.R247fs|VEZT_uc001tdw.1_Frame_Shift_Ins_p.R230fs|VEZT_uc009zta.1_Frame_Shift_Ins_p.R230fs	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	274_275						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						AAGCAGCAAGGCTAGCTACCCT	0.391												
C13orf33	84935	broad.mit.edu	37	13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582												
PIGB	9488	broad.mit.edu	37	15	55611484	55611484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:55611484delG	uc002act.2	+	1	352	c.36delG	c.(34-36)CCGfs	p.P12fs	uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	12					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		GAATGGAGCCGGGGGGCGGAG	0.577												
SP6	80320	broad.mit.edu	37	17	45925335	45925335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:45925335delC	uc002img.1	-	2	793	c.461delG	c.(460-462)GGCfs	p.G154fs	SP6_uc002imh.1_Frame_Shift_Del_p.G154fs	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCCGACGTAGCCCCCCAAGCC	0.711												
LRRC8E	80131	broad.mit.edu	37	19	7964762	7964763	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7964762_7964763insC	uc002mir.2	+	3	1456_1457	c.1355_1356insC	c.(1354-1356)TTCfs	p.F452fs		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	452						integral to membrane				lung(1)|pancreas(1)	2						GATATCACCTTCCCCCCGGGGC	0.644												
ZNF569	148266	broad.mit.edu	37	19	37903917	37903917	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:37903917delT	uc002ogi.2	-	6	2201	c.1643delA	c.(1642-1644)AAGfs	p.K548fs	ZNF569_uc002ogh.2_Frame_Shift_Del_p.K389fs|ZNF569_uc002ogj.2_Frame_Shift_Del_p.K572fs	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCATAAGGCTTTTCCCCTGT	0.388												
INO80D	54891	broad.mit.edu	37	2	206882406	206882406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:206882406delT	uc002vaz.3	-	8	1945	c.1540delA	c.(1540-1542)ATGfs	p.M514fs		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GAACTTACCATTTTTTTGGCA	0.254												
OBSL1	23363	broad.mit.edu	37	2	220435497	220435497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:220435497delC	uc010fwk.2	-	1	515	c.458delG	c.(457-459)GGCfs	p.G153fs	OBSL1_uc002vmi.2_Frame_Shift_Del_p.G153fs|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	153	Ig-like 2.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTCGGGGAGGCCCCCCGCCCG	0.746												
SULF2	55959	broad.mit.edu	37	20	46386103	46386103	+	Frame_Shift_Del	DEL	C	C	-	rs146351737		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:46386103delC	uc002xto.2	-	2	335	c.5delG	c.(4-6)GGCfs	p.G2fs	SULF2_uc002xtr.2_Frame_Shift_Del_p.G2fs|SULF2_uc002xtq.2_Frame_Shift_Del_p.G2fs|SULF2_uc010ghv.1_Frame_Shift_Del_p.G2fs	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	2					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GCTCGGGGGGCCCATCTTCTT	0.567												
CARD10	29775	broad.mit.edu	37	22	37900249	37900249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37900249delG	uc003asx.1	-	9	1581	c.1578delC	c.(1576-1578)CCCfs	p.P526fs	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	526					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGG	0.642												
LARP1B	55132	broad.mit.edu	37	4	129121762	129121762	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:129121762delA	uc003iga.2	+	17	2382	c.2251delA	c.(2251-2253)AAAfs	p.K751fs	LARP1B_uc003igc.2_Frame_Shift_Del_p.K170fs|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_RNA|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	751							RNA binding				0						TCACTTCAATAAAAAAATGTA	0.338												
PCDHB9	56127	broad.mit.edu	37	5	140567733	140567733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140567733delT	uc003liw.1	+	1	841	c.841delT	c.(841-843)TTTfs	p.F281fs		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	281	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCTATTCATTTTTTGATGC	0.383												
TRERF1	55809	broad.mit.edu	37	6	42227226	42227226	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:42227226delG	uc003osd.2	-	9	2683	c.2120delC	c.(2119-2121)CCTfs	p.P707fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.P624fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.P463fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.P463fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.P727fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	707	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGCGTGTAAGGGGGCAGCTC	0.726												
GATA1	2623	broad.mit.edu	37	X	48650295	48650295	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:48650295delG	uc004dkq.3	+	3	356	c.265delG	c.(265-267)GGGfs	p.G89fs		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	89					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						GGGGATCCCAGGGGGCTCACC	0.602			Mis|F		megakaryoblastic leukemia of Downs Syndrome							
DLG3	1741	broad.mit.edu	37	X	69673549	69673550	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:69673549_69673550delGA	uc004dyi.1	+	8	1536_1537	c.1208_1209delGA	c.(1207-1209)GGAfs	p.G403fs	DLG3_uc004dyj.1_Frame_Shift_Del_p.G66fs|DLG3_uc011mpn.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	403	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					ATCGTAGGAGGAGAGGATGGAG	0.574												
ZCCHC12	170261	broad.mit.edu	37	X	117959606	117959607	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:117959606_117959607insT	uc004equ.2	+	4	872_873	c.399_400insT	c.(397-402)AAATTTfs	p.K133fs		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	133_134					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						cccatggtaaattttttaacac	0.000												
ZBTB40	9923	broad.mit.edu	37	1	22817981	22817982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:22817980_22817981T>TA	uc001bft.2	+	3	1296_1297	c.785_786T>TA	c.(784-786)ttafs	p.L262fs	ZBTB40_uc001bfu.2_Frame_Shift_Ins_p.L262fs|ZBTB40_uc009vqi.1_Frame_Shift_Ins_p.L262fs	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	262					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGGATGTTTTAAAAAAACTAG	0.381												
PDIK1L	149420	broad.mit.edu	37	1	26448379	26448381	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:26448378_26448380CTAT>C	uc010oew.2	+	2	609_611	c.336_338CTAT>C	c.(334-339)gcctat>gcCt	p.Y114del	PDIK1L_uc001blj.4_In_Frame_Del_p.Y114del|PDIK1L_uc009vsb.3_In_Frame_Del_p.Y114del	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	114	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGCGCCTATTATTTGTGG	0.365												
CNKSR1	10256	broad.mit.edu	37	1	26514778	26514779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:26514777_26514778G>GC	uc001bln.4	+	16	1586_1587	c.1528_1529G>GC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_uc001blm.4_Frame_Shift_Ins_p.A503fs|CNKSR1_uc009vsd.3_Frame_Shift_Ins_p.A245fs|CNKSR1_uc009vse.3_Frame_Shift_Ins_p.A245fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	510					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.A503T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGGCCGGGCCCCCCCACCC	0.604												
ARID1A	8289	broad.mit.edu	37	1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcag	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
CSMD2	114784	broad.mit.edu	37	1	34166207	34166207	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:34166206_34166206AC>A	uc001bxm.1	-	22	3821	c.3644_3644GT>T	c.(3643-3645)gtgfs	p.V1215fs	CSMD2_uc001bxn.1_Frame_Shift_Del_p.V1175fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.V88fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1175	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTCAAAGTCACCCCCATCAT	0.488												
DLGAP3	58512	broad.mit.edu	37	1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGGTGGGGTAACCCCCCCAGT	0.607												
CACHD1	57685	broad.mit.edu	37	1	65138880	65138880	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:65138879_65138879AC>A	uc001dbo.1	+	17	2501	c.2396_2396AC>A	c.(2395-2397)cacfs	p.H799fs	CACHD1_uc001dbp.1_Frame_Shift_Del_p.H554fs|CACHD1_uc001dbq.1_Frame_Shift_Del_p.H554fs|CACHD1_uc010opa.1_Frame_Shift_Del_p.H43fs	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	850	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGGTGGCGCACCCGACTCTC	0.473												
TTLL7	79739	broad.mit.edu	37	1	84408217	84408217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:84408216_84408216AT>A	uc001djc.3	-	6	1049	c.653_653AT>T	c.(652-654)atafs	p.I218fs	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	218	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTAGAGAAATATTTTTAGTGG	0.363												
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-	rs138415707		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403												
SLC27A3	11000	broad.mit.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622												
HAX1	10456	broad.mit.edu	37	1	154246391	154246391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:154246390_154246390TC>T	uc010peo.2	+	2	642	c.481_481TC>T	c.(481-483)tccfs	p.S161fs	HAX1_uc001fet.3_Frame_Shift_Del_p.S105fs|HAX1_uc001fes.3_Frame_Shift_Del_p.S153fs|HAX1_uc009wou.3_Frame_Shift_Del_p.S78fs	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	153	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGAAGTGAATCCCCCCAACC	0.527									Kostmann syndrome			
THBS3	7059	broad.mit.edu	37	1	155177624	155177626	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155177623_155177625AAGG>A	uc001fix.3	-	0	148_150	c.43_45CCTT>T	c.(43-45)ctt>T	p.L15del	THBS3_uc010pfu.2_In_Frame_Del_p.L15del|THBS3_uc009wqi.3_In_Frame_Del_p.L15del|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjb.3_5'Flank|MTX1_uc001fjc.3_5'Flank	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	15					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGAAAAAGCAAAGGAGGAGAAGA	0.591												
ARHGEF11	9826	broad.mit.edu	37	1	156918293	156918294	+	Splice_Site	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156918292_156918293T>TG	uc001fqo.3	-	22	2846	c.1806_splice	c.e22-1	p.S602_splice	ARHGEF11_uc010phu.2_Splice_Site_p.S18_splice|ARHGEF11_uc001fqn.3_Splice_Site_p.S642_splice|ARHGEF11_uc001fqp.1_Intron	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	602					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCGTGAACTGGGGGGAAGGG	0.569												
PYHIN1	149628	broad.mit.edu	37	1	158906961	158906961	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:158906960_158906960TA>T	uc001ftb.3	+	1	510	c.260_260TA>T	c.(259-261)ttafs	p.L87fs	PYHIN1_uc001fta.4_Frame_Shift_Del_p.L87fs|PYHIN1_uc001ftc.3_Frame_Shift_Del_p.L87fs|PYHIN1_uc001ftd.3_Frame_Shift_Del_p.L87fs|PYHIN1_uc001fte.3_Frame_Shift_Del_p.L87fs	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	87	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAGAAAAGTTAAAAGGTAAT	0.448												
ILDR2	387597	broad.mit.edu	37	1	166926056	166926057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:166926055_166926056T>TC	uc001gdx.2	-	2	469_470	c.413_414A>GA	c.(412-414)ggafs	p.G138fs		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	138	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GTCCGCTGTCTCCCCACATAAG	0.426												
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:176762723_176762723TC>T	uc001gkz.3	+	19	6212	c.5048_5048TC>T	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGT	0.473												
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438073	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:204438071_204438072C>CG	uc001haw.3	-	2	1338_1339	c.859_860G>CG	c.(859-861)cgcfs	p.R287fs	PIK3C2B_uc010pqv.2_Frame_Shift_Ins_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Ins_p.R287fs|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624												
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393												
LAMB3	3914	broad.mit.edu	37	1	209823320	209823320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:209823319_209823319TG>T	uc001hhg.3	-	1	563	c.173_173CA>A	c.(172-174)cagfs	p.Q58fs	LAMB3_uc009xco.3_Frame_Shift_Del_p.Q58fs|LAMB3_uc001hhh.3_Frame_Shift_Del_p.Q58fs|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Frame_Shift_Del_p.Q58fs	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	58	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCGCCATACTGGGTGCAGTA	0.567												
C1orf101	257044	broad.mit.edu	37	1	244724287	244724287	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:244724286_244724286AT>A	uc001iam.3	+	9	1405	c.1346_1346AT>A	c.(1345-1347)catfs	p.H449fs	C1orf101_uc001iak.1_Frame_Shift_Del_p.H3fs|C1orf101_uc001ial.3_Frame_Shift_Del_p.H449fs|C1orf101_uc010pym.2_Frame_Shift_Del_p.H298fs|C1orf101_uc010pyn.2_Frame_Shift_Del_p.H382fs	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	449						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACCATGCCACATTTTACATTT	0.358												
MBOAT2	129642	broad.mit.edu	37	2	9098636	9098637	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:9098635_9098636C>CA	uc002qzg.1	-	1	344_345	c.211_212G>TG	c.(211-213)tgcfs	p.C71fs	MBOAT2_uc010yix.1_Frame_Shift_Ins_p.C71fs	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	71					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.C71S(2)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCCAAAGCAAAAAAGTGCA	0.337												
ADAM17	6868	broad.mit.edu	37	2	9642351	9642353	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:9642350_9642352ACTT>A	uc002qzu.3	-	12	1781_1783	c.1598_1600AAGT>T	c.(1597-1602)aagtgc>aTgc	p.533_534KC>M	ADAM17_uc010ewy.3_In_Frame_Del_p.533_534KC>M|ADAM17_uc010ewz.3_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	533	Disintegrin.				B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GCCTCCTGGCACTTCTTCTGGGC	0.483												
ROCK2	9475	broad.mit.edu	37	2	11367448	11367448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:11367447_11367447AC>A	uc002rbd.1	-	5	1250	c.801_801GT>T	c.(799-801)ggtfs	p.G267fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	267	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGAAACCATCACCCCCTTGTG	0.398												
ITSN2	50618	broad.mit.edu	37	2	24484521	24484521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:24484520_24484520AT>A	uc002rfe.2	-	20	2705	c.2447_2447AT>T	c.(2446-2448)atgfs	p.M816fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.M789fs|ITSN2_uc002rfg.3_Frame_Shift_Del_p.M816fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	816	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGATGGCATTTTTTCTAC	0.378												
GTF3C2	2976	broad.mit.edu	37	2	27552352	27552352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27552351_27552351AG>A	uc002rju.1	-	12	2202	c.1805_1805CT>T	c.(1804-1806)ctgfs	p.L602fs	GTF3C2_uc010eyy.1_Frame_Shift_Del_p.L46fs|GTF3C2_uc002rjv.1_Frame_Shift_Del_p.L591fs|GTF3C2_uc002rjw.1_Frame_Shift_Del_p.L591fs	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	591						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATCCGCTGCAGGGGTGAGTT	0.488												
MTIF2	4528	broad.mit.edu	37	2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363												
C2orf65	130951	broad.mit.edu	37	2	74789520	74789521	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:74789519_74789520T>TC	uc002smy.3	-	7	1222_1223	c.1105_1106A>GA	c.(1105-1107)gaafs	p.E369fs	C2orf65_uc010ysa.2_Frame_Shift_Ins_p.E369fs|C2orf65_uc010ffp.3_Intron	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	369					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						GCCCGGTGGTTCCCCCTTGGCT	0.520												
FAM176A	84141	broad.mit.edu	37	2	75720591	75720592	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:75720590_75720591GCT>G	uc002sni.2	-	3	708_709	c.230_231AGC>C	c.(229-231)agcfs	p.S77fs	FAM176A_uc002snj.1_Frame_Shift_Del_p.S64fs|FAM176A_uc002snk.1_Frame_Shift_Del_p.S77fs	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	77					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						TGTCGCTGCTGCTCTCTCTGTC	0.604												
IL1RL1	9173	broad.mit.edu	37	2	102959497	102959498	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:102959496_102959497G>GA	uc002tbu.1	+	7	954	c.683_splice	c.e7-1	p.G228_splice	IL1RL1_uc010ywa.2_Splice_Site_p.G111_splice|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Splice_Site_p.G228_splice	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	228	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCCCTCTAGGAAAAAACGCAA	0.386												
RANBP2	5903	broad.mit.edu	37	2	109347310	109347310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:109347309_109347309GA>G	uc002tem.4	+	2	346	c.220_220GA>G	c.(220-222)gaafs	p.E74fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	74					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGAATTGGAAGAAAACACAGA	0.348												
MGAT5	4249	broad.mit.edu	37	2	135076289	135076289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:135076288_135076288CT>C	uc002ttw.4	+	3	696	c.551_551CT>C	c.(550-552)tctfs	p.S184fs		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	184					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCCACCTGCTCTTTTTTTATT	0.468												
LRP1B	53353	broad.mit.edu	37	2	141751637	141751638	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:141751636_141751637TAC>T	uc002tvj.1	-	15	3543_3544	c.2571_2572GTA>A	c.(2569-2574)tgtatcfs	p.C857fs	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	857	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGAGCTTGGATACAGTGTCTGT	0.421										TSP Lung(27;0.18)		
KCNJ3	3760	broad.mit.edu	37	2	155711593	155711593	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:155711592_155711592GA>G	uc002tyv.1	+	2	1468	c.1273_1273GA>G	c.(1273-1275)gaafs	p.E425fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	425					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TACAACTTCAGAAAAAGCCTA	0.388												
MYO1B	4430	broad.mit.edu	37	2	192228888	192228889	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:192228887_192228888T>TA	uc010fsg.2	+	10	1172_1173	c.917_918T>TA	c.(916-918)ttafs	p.L306fs	MYO1B_uc002usq.2_Frame_Shift_Ins_p.L306fs|MYO1B_uc002usr.2_Frame_Shift_Ins_p.L306fs	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	306	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CCCACAGAGTTAAAAGAAATTT	0.391												
DNAH7	56171	broad.mit.edu	37	2	196912182	196912183	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:196912181_196912182T>TG	uc002utj.4	-	4	393_394	c.292_293A>CA	c.(292-294)cacfs	p.H98fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	98	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAACTTGGTGGGGTAATTTG	0.327												
ACSL3	2181	broad.mit.edu	37	2	223773616	223773616	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:223773615_223773615AT>A	uc002vni.3	+	3	576	c.125_125AT>A	c.(124-126)tatfs	p.Y42fs	ACSL3_uc002vnj.3_Frame_Shift_Del_p.Y42fs	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	42					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ATTCCGTTTTATTTTTTCTCC	0.294			T	ETV1	prostate							
TRPM8	79054	broad.mit.edu	37	2	234879010	234879011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:234879009_234879010A>AC	uc002vvh.3	+	16	2334_2335	c.2294_2295A>AC	c.(2293-2295)cacfs	p.H765fs	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574												
CAND2	23066	broad.mit.edu	37	3	12875432	12875434	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:12875431_12875433CAGA>C	uc003bxk.2	+	14	3710_3712	c.3661_3663CAGA>C	c.(3661-3663)cag>C	p.Q1221del	CAND2_uc003bxj.2_In_Frame_Del_p.Q1104del	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	1221					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAAAGCATCCAGAAGGATTCCG	0.571												
OXSR1	9943	broad.mit.edu	37	3	38287672	38287673	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:38287671_38287672GTC>G	uc003chy.3	+	12	1558_1559	c.1216_1217GTC>G	c.(1216-1218)gtcfs	p.V406fs	OXSR1_uc010hhb.3_Frame_Shift_Del_p.V340fs	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	406					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCAACTCAAGTCTCTCTCCCA	0.495												
SFMBT1	51460	broad.mit.edu	37	3	52965033	52965033	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52965032_52965032AT>A	uc003dgf.3	-	7	1343	c.720_720AT>T	c.(718-720)aatfs	p.N240fs	SFMBT1_uc010hmr.3_Frame_Shift_Del_p.N187fs|SFMBT1_uc003dgg.3_Frame_Shift_Del_p.N240fs|SFMBT1_uc003dgh.3_Frame_Shift_Del_p.N240fs	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	240					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)		ACTCAGCTTCATTTTTTAGAT	0.338												
FEZF2	55079	broad.mit.edu	37	3	62356932	62356932	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:62356931_62356931AG>A	uc003dlh.2	-	2	1288	c.1081_1081CT>T	c.(1081-1083)ttcfs	p.F361fs	FEZF2_uc003dli.2_Frame_Shift_Del_p.F361fs	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	361					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TCGCAGACGAAGGGCTTGTAG	0.572												
ROBO2	6092	broad.mit.edu	37	3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(2)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431												
TRIM42	287015	broad.mit.edu	37	3	140407048	140407048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:140407047_140407047AC>A	uc003eto.2	+	2	1729	c.1523_1523AC>A	c.(1522-1524)tacfs	p.Y508fs		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	508						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCTCCCCCTACCCCGTGCAC	0.577												
ACTL6A	86	broad.mit.edu	37	3	179288016	179288016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:179288015_179288015TA>T	uc003fjw.3	+	2	436	c.263_263TA>T	c.(262-264)ctafs	p.L88fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.L46fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.L46fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	88					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ATTTCACCTCTAAAAAATGGG	0.398												
ZFYVE28	57732	broad.mit.edu	37	4	2307120	2307120	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:2307119_2307119AG>A	uc003gex.2	-	7	1268	c.948_948CT>T	c.(946-948)cctfs	p.P316fs	ZFYVE28_uc011bvk.2_Frame_Shift_Del_p.P246fs|ZFYVE28_uc011bvl.2_Frame_Shift_Del_p.P286fs|ZFYVE28_uc003gew.2_Frame_Shift_Del_p.P202fs	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	316					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGGCCCCTCAGGGGGGAGAG	0.657												
AFAP1	60312	broad.mit.edu	37	4	7776557	7776559	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:7776556_7776558GCTC>G	uc011bwk.1	-	14	2243_2245	c.1970_1972GAGC>C	c.(1969-1974)gagctg>gCtg	p.657_658EL>A	AFAP1_uc003gkg.1_In_Frame_Del_p.573_574EL>A|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	603						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCTTCAGCAGCTCCTCCTCTTT	0.517												
CPZ	8532	broad.mit.edu	37	4	8616156	8616156	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:8616155_8616155TC>T	uc003glm.3	+	8	1607	c.1433_1433TC>T	c.(1432-1434)ttcfs	p.F478fs	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Frame_Shift_Del_p.F467fs|CPZ_uc003gln.3_Frame_Shift_Del_p.F341fs	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	478					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTGTGAAGTTCCCCCCCGAG	0.572												
KLF3	51274	broad.mit.edu	37	4	38691476	38691477	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38691475_38691476T>TC	uc003gth.4	+	3	1002_1003	c.670_671T>TC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Ins_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426												
KLB	152831	broad.mit.edu	37	4	39448946	39448947	+	Frame_Shift_Ins	INS	-	-	G	rs34101901		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:39448945_39448946T>TG	uc003gua.3	+	3	2696_2697	c.2599_2600T>TG	c.(2599-2601)tggfs	p.W867fs	KLB_uc011byj.2_Frame_Shift_Ins_p.W858fs	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	867	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGTGATTCCCTGGGGGGTGCGC	0.649												
HELQ	113510	broad.mit.edu	37	4	84368060	84368060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:84368059_84368059CT>C	uc003hom.3	-	3	1500	c.1321_1321AG>G	c.(1321-1323)ggafs	p.G441fs	HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	441	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAGCTATGTCCTTTTTCAATA	0.373								Other identified genes with known or suspected DNA repair function				
WDFY3	23001	broad.mit.edu	37	4	85758175	85758176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:85758174_85758175C>CA	uc003hpd.3	-	6	891_892	c.483_484G>TG	c.(481-486)tttgacfs	p.F161fs	WDFY3_uc003hpf.3_Frame_Shift_Ins_p.F161fs	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	161						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTGGAAGGTCAAAAAACAGAT	0.426												
H2AFZ	3015	broad.mit.edu	37	4	100869648	100869651	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:100869647_100869650CCAAT>C	uc003hvo.1	-	4	541_544	c.356_359ATTGG>G	c.(355-360)attgggfs	p.I119fs	DNAJB14_uc003hvl.3_5'Flank|DNAJB14_uc010ili.3_5'Flank|DNAJB14_uc003hvm.3_5'Flank|H2AFZ_uc003hvn.1_3'UTR|LOC256880_uc003hvp.1_5'Flank	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN	Homo sapiens H2A histone family, member Z (H2AFZ), mRNA.	119					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCCTTTCTTCCCAATCAGAGATTT	0.382												
ANK2	287	broad.mit.edu	37	4	113970953	113970953	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:113970952_113970952GA>G	uc003ibe.4	+	0	168	c.68_68GA>G	c.(67-69)agafs	p.R23fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Frame_Shift_Del_p.R23fs|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.R23fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	23					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R22R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTCAGAGGAGAAAAAGACCC	0.413												
TRAM1L1	133022	broad.mit.edu	37	4	118006514	118006515	+	Frame_Shift_Ins	INS	-	-	G	rs113650718	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:118006513_118006514C>CG	uc003ibv.4	-	0	223_224	c.36_37G>CG	c.(34-39)cccgttfs	p.P12fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	12					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCTGAGAACGGGGGGGTTCT	0.619												
SCLT1	132320	broad.mit.edu	37	4	129864270	129864271	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:129864269_129864270T>TTC	uc003igp.2	-	16	2019_2020	c.1513_1514A>GAA	c.(1513-1515)aacfs	p.N505fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.N169fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.N115fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	505						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGCCCACAGTTCTCTCTCTCA	0.376												
PCDH10	57575	broad.mit.edu	37	4	134071649	134071650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:134071648_134071649A>AC	uc003iha.3	+	0	1179_1180	c.353_354A>AC	c.(352-354)aacfs	p.N118fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.N118fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604												
FHDC1	85462	broad.mit.edu	37	4	153896567	153896568	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:153896566_153896567CTG>C	uc003inf.2	+	10	2198_2199	c.2123_2124CTG>C	c.(2122-2124)tctfs	p.S708fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	708					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGCTAGAGTCTGTGGGGCATA	0.644												
NEIL3	55247	broad.mit.edu	37	4	178256979	178256979	+	Splice_Site	DEL	A	A	-	rs35737622	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:178256978_178256978TA>T	uc003iut.2	+	3	530	c.413_splice	c.e3+2	p.R138_splice	NEIL3_uc010irs.3_Splice_Site_p.R41_splice	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	138					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGAACTCAGGTAAAAAAAATT	0.333								Base excision repair (BER), DNA glycosylases				
MYO10	4651	broad.mit.edu	37	5	16694606	16694607	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:16694605_16694606G>GC	uc003jft.4	-	26	4142_4143	c.3674_3675C>GC	c.(3673-3675)ggcfs	p.G1225fs	MYO10_uc011cnc.2_Frame_Shift_Ins_p.G104fs|MYO10_uc011cnd.2_Frame_Shift_Ins_p.G582fs|MYO10_uc011cne.2_Frame_Shift_Ins_p.G582fs|MYO10_uc010itx.3_Frame_Shift_Ins_p.G848fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1225	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564												
ADAMTS12	81792	broad.mit.edu	37	5	33546197	33546197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:33546196_33546196AC>A	uc003jia.1	-	21	4577	c.4414_4414GT>T	c.(4414-4416)tgcfs	p.C1472fs	ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.C1387fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1472	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1472F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGTGACAGCACAGGTGCTCA	0.443										HNSCC(64;0.19)		
DAB2	1601	broad.mit.edu	37	5	39394337	39394338	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:39394336_39394337C>CT	uc003jlx.3	-	1	617_618	c.86_87G>AG	c.(85-87)aagfs	p.K29fs	DAB2_uc003jlw.3_Frame_Shift_Ins_p.K29fs	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	29					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCATACCTTTCTTTTTTTCCTT	0.475												
MOCS2	4338	broad.mit.edu	37	5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:52402939_52402939TG>T	uc003joz.3	-	2	480	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	MOCS2_uc011cqf.2_Frame_Shift_Del_p.I85fs|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	p.P21P(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATA	0.428												
CMYA5	202333	broad.mit.edu	37	5	79031458	79031458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79031457_79031457GA>G	uc003kgc.3	+	1	6941	c.6869_6869GA>G	c.(6868-6870)ggafs	p.G2290fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2290						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAGATTATGGAAAAAAAGAA	0.343												
FER	2241	broad.mit.edu	37	5	108290522	108290522	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:108290521_108290521TA>T	uc003kop.1	+	11	1805	c.1421_1421TA>T	c.(1420-1422)ttafs	p.L474fs	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Frame_Shift_Del_p.L299fs	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	474	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CAAGAACTGTTAAAAAAACAA	0.403												
TCF7	6932	broad.mit.edu	37	5	133473765	133473766	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:133473764_133473765G>GC	uc003kyt.3	+	3	652_653	c.456_457G>GC	c.(454-459)cagcccfs	p.Q152fs	TCF7_uc003kyv.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyw.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyu.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyy.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kza.3_Frame_Shift_Ins_p.Q37fs	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	152					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574												
PCDH12	51294	broad.mit.edu	37	5	141336951	141336951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:141336950_141336950AG>A	uc003llx.3	-	0	1678	c.467_467CT>T	c.(466-468)ctgfs	p.L156fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	156	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGTCCAGGGGGATCCG	0.572												
ZNF346	23567	broad.mit.edu	37	5	176471425	176471426	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176471424_176471425G>GC	uc003mfk.1	+	4	525_526	c.482_483G>GC	c.(481-483)tgcfs	p.C161fs	ZNF346_uc003mfi.3_Frame_Shift_Ins_p.C136fs|ZNF346_uc011dfr.2_Frame_Shift_Ins_p.C104fs|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	136						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACCAGTGCTGCCCCATCTGTA	0.510												
FGFR4	2264	broad.mit.edu	37	5	176520278	176520278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176520277_176520277AC>A	uc003mfl.3	+	8	1363	c.1196_1196AC>A	c.(1195-1197)cacfs	p.H399fs	FGFR4_uc003mfm.3_Frame_Shift_Del_p.H399fs|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	399					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CACGGCCGGCACCCCCGCCCG	0.682										TSP Lung(9;0.080)		
TRIM41	90933	broad.mit.edu	37	5	180661667	180661668	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:180661666_180661667CAG>C	uc003mne.2	+	5	2521_2522	c.1784_1785CAG>C	c.(1783-1785)gcafs	p.A595fs	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Frame_Shift_Del_p.A175fs	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	595	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTACAACGCAGAGACTCTAG	0.594												
DSP	1832	broad.mit.edu	37	6	7583160	7583161	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:7583159_7583160T>TGA	uc003mxp.1	+	23	5943_5944	c.5664_5665T>TGA	c.(5662-5667)agtgagfs	p.S1888fs	DSP_uc003mxq.1_Frame_Shift_Ins_p.S1289fs|DSP_uc021yle.1_Frame_Shift_Ins_p.S1445fs	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1888	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1889V(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAAAAGAGTGAGAGAGAGAA	0.446												
TAP2	6891	broad.mit.edu	37	6	32805788	32805788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:32805787_32805787AG>A	uc011dqf.1	-	1	346	c.224_224CT>T	c.(223-225)ctgfs	p.L75fs	TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003occ.3_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.3_Frame_Shift_Del_p.L75fs	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	75					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGAGACAGTCAGGGGGGTGGC	0.687												
PSMB8	5696	broad.mit.edu	37	6	32811743	32811744	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:32811742_32811743C>CG	uc003oce.3	-	0	74_75	c.31_32G>CG	c.(31-33)cgafs	p.R11fs	PSMB8_uc003ocf.3_Intron|PSMB8_uc011dqh.2_Frame_Shift_Ins_p.R11fs|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	11					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						CCGCTGCCCTCGGGGGGCTCCG	0.619												
LRFN2	57497	broad.mit.edu	37	6	40399588	40399589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:40399587_40399588C>CG	uc003oph.1	-	1	1730_1731	c.1265_1266G>CG	c.(1264-1266)ccgfs	p.P422fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	422	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCCGTTCCGGGGGGCTTTT	0.639												
GPR115	221393	broad.mit.edu	37	6	47678561	47678561	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:47678560_47678560CA>C	uc003oyz.1	+	4	409	c.409_409CA>C	c.(409-411)caafs	p.Q137fs	GPR115_uc003oza.1_Frame_Shift_Del_p.Q80fs|GPR115_uc003ozb.1_Frame_Shift_Del_p.Q80fs	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	80					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TACATGTAATCAAAAAAAGTG	0.378												
SOBP	55084	broad.mit.edu	37	6	107824871	107824871	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:107824870_107824870GA>G	uc003prx.3	+	1	610	c.106_106GA>G	c.(106-108)gaafs	p.E36fs	SOBP_uc003prw.1_Frame_Shift_Del_p.E36fs	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	36							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAACTTTGCAGAAAACACCAT	0.368												
WASF1	8936	broad.mit.edu	37	6	110423249	110423249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:110423248_110423248TG>T	uc003ptv.1	-	9	1902	c.1065_1065CA>A	c.(1063-1065)ccafs	p.P355fs	WASF1_uc003ptw.1_Frame_Shift_Del_p.P355fs|WASF1_uc003ptx.1_Frame_Shift_Del_p.P355fs|WASF1_uc003pty.1_Frame_Shift_Del_p.P355fs	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	355	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GAGGTGGAGGTGGGGGAGGTA	0.572												
LAMA4	3910	broad.mit.edu	37	6	112496670	112496672	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:112496669_112496671CTTG>C	uc003pvu.2	-	10	1510_1512	c.1201_1203CAAG>G	c.(1201-1203)aag>G	p.K401del	LAMA4_uc003pvv.2_In_Frame_Del_p.K394del|LAMA4_uc003pvt.2_In_Frame_Del_p.K394del	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	401	Domain II and I.				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)		AATAGAGCATCTTGTTGTTGATC	0.493												
LAMA2	3908	broad.mit.edu	37	6	129621993	129621993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:129621992_129621992GC>G	uc021zfb.1	+	21	3254	c.3149_3149GC>G	c.(3148-3150)ggcfs	p.G1050fs	LAMA2_uc003qbn.3_Frame_Shift_Del_p.G1050fs|LAMA2_uc003qbo.3_Frame_Shift_Del_p.G1050fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1050	Laminin EGF-like 11.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATACCTGGGGCCACAGCATT	0.423												
GRM1	2911	broad.mit.edu	37	6	146350672	146350673	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:146350671_146350672G>GT	uc010khw.1	+	1	488_489	c.18_19G>GT	c.(16-21)ttgtttfs	p.L6fs	GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644												
TIAM2	26230	broad.mit.edu	37	6	155565829	155565834	+	In_Frame_Del	DEL	AGTTTC	AGTTTC	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:155565828_155565833GAGTTTC>G	uc003qqb.3	+	19	4727_4732	c.3454_3459GAGTTTC>G	c.(3454-3459)gagttt>G	p.EF1152del	TIAM2_uc003qqe.3_In_Frame_Del_p.EF1152del|TIAM2_uc010kjj.3_In_Frame_Del_p.EF685del|TIAM2_uc003qqf.3_In_Frame_Del_p.EF528del|TIAM2_uc011efl.1_In_Frame_Del_p.EF488del|TIAM2_uc003qqg.3_In_Frame_Del_p.EF464del|TIAM2_uc003qqh.3_In_Frame_Del_p.EF77del	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1152	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGATGCTTGAGTTTCAGAAGGTGT	0.437												
PRKAR1B	5575	broad.mit.edu	37	7	720281	720281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:720280_720280CG>C	uc003siu.2	-	2	394	c.261_261CG>G	c.(259-261)ccgfs	p.P87fs	PRKAR1B_uc021zyi.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siv.3_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyj.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyk.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siw.2_Frame_Shift_Del_p.P87fs	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	87	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.P87T(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCACAGGGTTCGGGGGGGTGG	0.622												
RNF216	54476	broad.mit.edu	37	7	5765046	5765046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:5765045_5765045AT>A	uc003sox.2	-	7	1673	c.1414_1414AT>T	c.(1414-1416)tggfs	p.W472fs	RNF216_uc010ksz.2_Frame_Shift_Del_p.W37fs|RNF216_uc010kta.2_Frame_Shift_Del_p.W37fs|RNF216_uc003soy.2_Frame_Shift_Del_p.W415fs|RNF216_uc011jwj.2_Frame_Shift_Del_p.W37fs	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	415					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGCTCCTGCCATTTTTTAATG	0.368												
GRB10	2887	broad.mit.edu	37	7	50771608	50771608	+	Splice_Site	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome			
CLCN1	1180	broad.mit.edu	37	7	143013362	143013362	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:143013361_143013361AC>A	uc003wcr.1	+	0	143	c.56_56AC>A	c.(55-57)gacfs	p.D19fs	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	19					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGGGGTAGTGACCCCCAGTAC	0.642												
ARHGEF5	7984	broad.mit.edu	37	7	144075858	144075858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:144075857_144075857TC>T	uc003wel.3	+	13	4652	c.4534_4534TC>T	c.(4534-4536)tccfs	p.S1512fs	ARHGEF5_uc003wem.3_Frame_Shift_Del_p.S313fs	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1512					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAAAGACTCCCCCCAGGT	0.557												
CUL1	8454	broad.mit.edu	37	7	148427287	148427288	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:148427286_148427287CAG>C	uc010lpg.3	+	1	598_599	c.72_73CAG>C	c.(70-75)ctcagafs	p.L24fs	CUL1_uc003wey.3_Frame_Shift_Del_p.L24fs|CUL1_uc003wez.3_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	24					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGACGACCTCAGAGCCGGCAT	0.564												
ZNF395	55893	broad.mit.edu	37	8	28210809	28210810	+	Frame_Shift_Ins	INS	-	-	G	rs145352684	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:28210808_28210809T>TG	uc003xgq.3	-	4	788_789	c.700_701A>CA	c.(700-702)cacfs	p.H234fs	ZNF395_uc003xgt.3_Frame_Shift_Ins_p.H234fs|ZNF395_uc003xgr.3_Frame_Shift_Ins_p.H234fs|ZNF395_uc003xgs.3_Frame_Shift_Ins_p.H234fs	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	234					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.H234fs*43(2)|p.H234fs*19(2)|p.H234P(2)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGCCTGGGGGTGGGGGGGCGAG	0.609												
BAG4	9530	broad.mit.edu	37	8	38066756	38066756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:38066755_38066755AC>A	uc003xky.2	+	3	1140	c.858_858AC>A	c.(856-858)tcafs	p.S286fs	BAG4_uc003xkz.2_Frame_Shift_Del_p.S250fs	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	286					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CTCCCCAGTCACCCCCTTCAC	0.502												
PRKDC	5591	broad.mit.edu	37	8	48689518	48689519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:48689517_48689518C>CT	uc003xqi.3	-	85	12123_12124	c.12066_12067G>AG	c.(12064-12069)aaaggafs	p.K4022fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.K3991fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	4023					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATGACCCTCCTTTTTTCAGCA	0.361								Non-homologous end-joining				
RP1	6101	broad.mit.edu	37	8	55533979	55533979	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:55533978_55533978GC>G	uc003xsd.1	+	1	600	c.452_452GC>G	c.(451-453)cgcfs	p.R151fs	RP1_uc011ldy.1_Frame_Shift_Del_p.R151fs	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	151					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGCATGCCCCGCCCCCCACGG	0.687												
NBN	4683	broad.mit.edu	37	8	90993676	90993676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:90993675_90993675AT>A	uc003yej.1	-	2	358	c.248_248AT>T	c.(247-249)atgfs	p.M83fs	NBN_uc011lgb.1_Frame_Shift_Del_p.M83fs|NBN_uc003yei.1_Frame_Shift_Del_p.M1fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	83	FHA.				DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GCCATTCTGCATTTTTTCCTC	0.308								Homologous recombination				
KLHL38	340359	broad.mit.edu	37	8	124664919	124664920	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:124664918_124664919T>TG	uc003yqs.1	-	0	272_273	c.248_249A>CA	c.(247-249)ccafs	p.P83fs		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	83	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCCAGGGTTGGGGGGTCAAT	0.579												
COL22A1	169044	broad.mit.edu	37	8	139606361	139606361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:139606360_139606360AG>A	uc003yvd.3	-	62	4962	c.4515_4515CT>T	c.(4513-4515)cctfs	p.P1505fs	COL22A1_uc011ljo.2_Frame_Shift_Del_p.P785fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1505	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATCTTTTCCAGGGGGCCCTG	0.642										HNSCC(7;0.00092)		
FOXH1	8928	broad.mit.edu	37	8	145699782	145699782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145699781_145699781AC>A	uc003zdc.3	-	2	1517	c.938_938GT>T	c.(937-939)gtgfs	p.V313fs		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	313	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TTCAGGGGCCACCCCCCAGTA	0.612												
HAUS6	54801	broad.mit.edu	37	9	19063047	19063047	+	Frame_Shift_Del	DEL	T	T	-	rs34558496		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:19063046_19063046CT>C	uc003znk.3	-	13	1842	c.1589_1589AG>G	c.(1588-1590)agtfs	p.S530fs	HAUS6_uc011lmz.2_Frame_Shift_Del_p.S250fs|HAUS6_uc022bdv.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znl.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znm.1_Frame_Shift_Del_p.S285fs	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	530					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAATGGATCACTTTTTTTAGC	0.373												
DDX58	23586	broad.mit.edu	37	9	32487588	32487588	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:32487587_32487587GT>G	uc003zra.3	-	8	1415	c.1257_1257AC>C	c.(1255-1257)aacfs	p.N419fs	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Frame_Shift_Del_p.N374fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.N216fs|DDX58_uc010mji.3_Frame_Shift_Del_p.N348fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	419	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTCATCTGTGTTTTTGGCAT	0.448												
PIGO	84720	broad.mit.edu	37	9	35091523	35091523	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35091522_35091522TG>T	uc003zwd.3	-	6	2758	c.2362_2362CA>A	c.(2362-2364)actfs	p.T788fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.T351fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCT	0.602												
RUSC2	9853	broad.mit.edu	37	9	35555056	35555056	+	Splice_Site	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35555055_35555055AG>A	uc003zww.3	+	3	2270	c.2015_splice	c.e3-2	p.G672_splice	RUSC2_uc010mkq.3_Splice_Site|RUSC2_uc003zwx.4_Splice_Site_p.G672_splice	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	672						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTTGCTACAGGGGGTGGCA	0.567												
OR2S2	56656	broad.mit.edu	37	9	35957249	35957249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35957248_35957248AG>A	uc011lpi.2	-	0	904	c.848_848CT>T	c.(847-849)cttfs	p.L283fs		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			CCCATAGAAAAGGGGGATGAG	0.498												
ZCCHC6	79670	broad.mit.edu	37	9	88937823	88937824	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:88937822_88937823T>TA	uc004aou.3	-	12	2980_2981	c.2842_2843A>TA	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Ins_p.Y948fs|ZCCHC6_uc004aot.3_Frame_Shift_Ins_p.Y825fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	948					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ACTGAATTCATAAAAAAAATCA	0.332												
ZNF462	58499	broad.mit.edu	37	9	109687968	109687968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:109687967_109687967AC>A	uc004bcz.3	+	2	2063	c.1774_1774AC>A	c.(1774-1776)acafs	p.T592fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Del_p.T440fs|ZNF462_uc004bda.3_Frame_Shift_Del_p.T440fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	592					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACAGCCACCCACACAAGCCGC	0.557												
PTPN3	5774	broad.mit.edu	37	9	112216857	112216859	+	Splice_Site	DEL	ACA	ACA	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:112216856_112216858TACA>T	uc004bed.2	-	5	402	c.290_splice	c.e5-1	p.G97_splice	PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.G97_splice|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.4_3'UTR	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	97	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGAAACCTCCTACAACATTTTTC	0.350												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456517	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:115456515_115456516T>TA	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGAG	0.347												
PRPF4	9128	broad.mit.edu	37	9	116038946	116038947	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:116038945_116038946A>AT	uc004bgx.3	+	1	258_259	c.148_149A>AT	c.(148-150)attfs	p.I50fs	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.3_Frame_Shift_Ins_p.I49fs	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	50						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding	p.G49V(1)|p.G49W(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AGAGTCTGGGATTTTGGGGAAA	0.455												
PTGS1	5742	broad.mit.edu	37	9	125141077	125141077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:125141076_125141076TC>T	uc004bmg.1	+	4	510	c.375_375TC>T	c.(373-375)agtfs	p.S125fs	PTGS1_uc011lys.1_Frame_Shift_Del_p.S100fs|PTGS1_uc010mwb.1_Frame_Shift_Del_p.S16fs|PTGS1_uc004bmf.1_Frame_Shift_Del_p.S125fs|PTGS1_uc004bmh.1_Frame_Shift_Del_p.S16fs|PTGS1_uc011lyt.1_Frame_Shift_Del_p.S16fs	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	125					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	TTATCCCCAGTCCCCCCACCT	0.532												
C9orf139	401563	broad.mit.edu	37	9	139929461	139929462	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:139929460_139929461C>CG	uc004ckp.1	+	2	2041_2042	c.527_528C>CG	c.(526-528)tcgfs	p.S176fs	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	176										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		AAGAGAAAGTCGGGGGGCAGGG	0.619												
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
MLLT10	8028	broad.mit.edu	37	10	21962783	21962785	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:21962782_21962784TCTC>T	uc021pny.1	+	9	1555_1557	c.1555_1557TCTC>T	c.(1555-1557)tct>T	p.S519del	MLLT10_uc001iqs.3_In_Frame_Del_p.S519del|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_In_Frame_Del_p.S519del|MLLT10_uc001ira.3_5'UTR|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	519	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGCAGAAATCTCCTACATTGC	0.424			T	"""MLL, PICALM, CDK6"""	AL							
CCAR1	55749	broad.mit.edu	37	10	70513779	70513780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:70513778_70513779G>GA	uc001joo.3	+	10	1407_1408	c.1288_1289G>GA	c.(1288-1290)gaafs	p.E430fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Ins_p.E235fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.E404fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.E376fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	430					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGTCCTTAGAAAAAAATATG	0.381												
CHCHD1	118487	broad.mit.edu	37	10	75541891	75541891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:75541890_75541890TG>T	uc001jvc.4	+	0	83	c.57_57TG>T	c.(55-57)cctfs	p.P19fs	CHCHD1_uc001jvb.2_Frame_Shift_Del_p.P19fs	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1), mRNA.	19						nucleus				breast(1)	1	Prostate(51;0.0112)					CGCGGAAGCCTGTGCTGAAGC	0.677												
MYOF	26509	broad.mit.edu	37	10	95113648	95113649	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:95113647_95113648T>TA	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAGG	0.347												
SORBS1	10580	broad.mit.edu	37	10	97078078	97078079	+	Splice_Site	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:97078077_97078078C>CA	uc001kkp.3	-	30	3856	c.3811_splice	c.e30+1	p.G1271_splice	SORBS1_uc001kkk.3_Splice_Site_p.G527_splice|SORBS1_uc001kkl.3_Splice_Site_p.G615_splice|SORBS1_uc001kkn.3_Splice_Site_p.G778_splice|SORBS1_uc001kkm.3_Splice_Site_p.G813_splice|SORBS1_uc001kko.3_Splice_Site_p.G1130_splice|SORBS1_uc001kkq.3_Splice_Site_p.G884_splice|SORBS1_uc001kkr.3_Splice_Site_p.G719_splice|SORBS1_uc001kks.3_Splice_Site_p.G663_splice|SORBS1_uc001kkt.3_Splice_Site|SORBS1_uc001kku.3_Splice_Site_p.G760_splice|SORBS1_uc001kkv.3_Splice_Site_p.G795_splice|SORBS1_uc001kkw.3_Splice_Site_p.G1245_splice|SORBS1_uc010qoe.2_Splice_Site_p.G728_splice	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1271	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGATTCTTACCAACAAACCATC	0.406												
GPAM	57678	broad.mit.edu	37	10	113920453	113920454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:113920452_113920453T>TA	uc009xxy.2	-	15	1878_1879	c.1668_1669A>TA	c.(1666-1671)tttatcfs	p.F556fs	GPAM_uc001kzp.3_Frame_Shift_Ins_p.F556fs|GPAM_uc001kzq.1_Frame_Shift_Ins_p.F556fs	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	556					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CTGGGGGTGATAAAAAACTCAT	0.450												
TACC2	10579	broad.mit.edu	37	10	123970691	123970692	+	Frame_Shift_Ins	INS	-	-	G	rs148585687	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:123970690_123970691C>CG	uc001lfv.3	+	8	7110_7111	c.6750_6751C>CG	c.(6748-6753)agcgggfs	p.S2250fs	TACC2_uc001lfw.3_Frame_Shift_Ins_p.S396fs|TACC2_uc009xzx.3_Frame_Shift_Ins_p.S2205fs|TACC2_uc010qtv.2_Frame_Shift_Ins_p.S2254fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Ins_p.S328fs|TACC2_uc001lga.3_Frame_Shift_Ins_p.S328fs|TACC2_uc009xzy.3_Frame_Shift_Ins_p.S328fs|TACC2_uc001lgb.3_Frame_Shift_Ins_p.S285fs|TACC2_uc010qtw.1_Frame_Shift_Ins_p.S345fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2250						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCGGATAGCGGGGGGCAAGA	0.599												
MUC5B	727897	broad.mit.edu	37	11	1269737	1269737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1269736_1269736AC>A	uc001lta.3	+	30	11685	c.11626_11626AC>A	c.(11626-11628)accfs	p.T3876fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3876	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCACAGTCACCCCCTCCTC	0.647												
KRTAP5-1	387264	broad.mit.edu	37	11	1606106	1606106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1606105_1606105TC>T	uc001ltu.1	-	0	409	c.375_375GA>A	c.(373-375)ggafs	p.G125fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	125	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGAGCCACATCCCCCACAGC	0.652												
ART5	116969	broad.mit.edu	37	11	3660980	3660980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:3660979_3660979TG>T	uc001lyb.1	-	1	1073	c.680_680CA>A	c.(679-681)catfs	p.H227fs	ART5_uc001lyc.1_Frame_Shift_Del_p.H227fs|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	227						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAAT	0.502												
ANO5	203859	broad.mit.edu	37	11	22276925	22276925	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:22276924_22276924AT>A	uc001mqi.2	+	12	1505	c.1188_1188AT>A	c.(1186-1188)ttafs	p.L396fs	ANO5_uc001mqj.2_Frame_Shift_Del_p.L395fs	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	396						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAGTCACCTTATTTTTGGAGT	0.348												
LRP4	4038	broad.mit.edu	37	11	46884241	46884242	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:46884240_46884241A>AT	uc001ndn.4	-	36	5544_5545	c.5301_5302T>AT	c.(5299-5304)ccctccfs	p.P1767fs	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Frame_Shift_Ins_p.P9fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1767					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTCGGTAGGAGGGGTTGCTGT	0.426												
ZDHHC5	25921	broad.mit.edu	37	11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:57466854_57466856CAGA>C	uc001nkx.1	+	10	3202_3204	c.1946_1948CAGA>C	c.(1945-1950)acagaa>aCaa	p.E651del	ZDHHC5_uc001nky.1_In_Frame_Del_p.E598del|ZDHHC5_uc001nkz.1_In_Frame_Del_p.E465del	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	651						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GTCTCTGAGACAGAAGAAGTGGC	0.512												
MS4A7	58475	broad.mit.edu	37	11	60154225	60154225	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:60154224_60154224GA>G	uc001npe.3	+	3	462	c.317_317GA>G	c.(316-318)ggafs	p.G106fs	MS4A7_uc001npf.3_Frame_Shift_Del_p.G106fs|MS4A7_uc001npg.3_Frame_Shift_Del_p.G61fs|MS4A7_uc001nph.3_Frame_Shift_Del_p.G61fs|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Frame_Shift_Del_p.G61fs	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	106						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATTATCTCTGGAAAACAATCA	0.403												
C11orf9	745	broad.mit.edu	37	11	61539013	61539014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:61539012_61539013T>TC	uc001nsc.1	+	5	877_878	c.781_782T>TC	c.(781-783)tccfs	p.S261fs	C11orf9_uc001nse.1_Frame_Shift_Ins_p.S252fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCACTCTGAATCCCCCCCCAGC	0.634												
SHANK2	22941	broad.mit.edu	37	11	70319348	70319348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:70319347_70319347AG>A	uc001oqc.3	-	21	5091	c.4979_4979CT>T	c.(4978-4980)ctgfs	p.L1660fs	SHANK2_uc010rqn.2_Frame_Shift_Del_p.L1136fs|SHANK2_uc001opz.3_Frame_Shift_Del_p.L1131fs|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Frame_Shift_Del_p.L62fs|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1347					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCAGCAGACAGGGGGGCGGG	0.607												
ARHGEF17	9828	broad.mit.edu	37	11	73021527	73021527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:73021526_73021526GC>G	uc001otu.3	+	0	1864	c.1843_1843GC>G	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGAAGCGATGCCCCCCCTGG	0.617												
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-	rs80196697		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393												
SLCO1C1	53919	broad.mit.edu	37	12	20885884	20885884	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:20885883_20885883TG>T	uc010sii.2	+	10	1582	c.1227_1227TG>T	c.(1225-1227)tctfs	p.S409fs	SLCO1C1_uc010sij.2_Frame_Shift_Del_p.S360fs|SLCO1C1_uc009zip.3_Frame_Shift_Del_p.S243fs|SLCO1C1_uc001rei.3_Frame_Shift_Del_p.S409fs|SLCO1C1_uc010sik.2_Frame_Shift_Del_p.S291fs	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	409					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAATATTCTCTGGGGGGATAG	0.383												
MLL2	8085	broad.mit.edu	37	12	49445500	49445500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49445499_49445499AG>A	uc001rta.4	-	9	1967	c.1967_1967CT>T	c.(1966-1968)ctgfs	p.L656fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	656	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCACAGGCAGGGGGGATAG	0.642			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
PCBP2	5094	broad.mit.edu	37	12	53856278	53856278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53856277_53856277TC>T	uc001sdl.4	+	7	867	c.517_517TC>T	c.(517-519)tccfs	p.S173fs	PCBP2_uc001sde.4_Splice_Site_p.S169_splice|PCBP2_uc001sdi.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdd.4_Splice_Site_p.S169_splice|PCBP2_uc001sdf.4_Splice_Site_p.S169_splice|PCBP2_uc001sdc.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdb.4_Splice_Site_p.S169_splice|PCBP2_uc010soi.2_5'UTR|PCBP2_uc010soj.2_5'UTR|PCBP2_uc001sdk.4_Splice_Site|PCBP2_uc010soh.1_Splice_Site_p.S169_splice	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAA	0.498												
ZBTB39	9880	broad.mit.edu	37	12	57397473	57397475	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:57397472_57397474AAAG>A	uc001sml.2	-	1	1381_1383	c.1228_1230CTTT>T	c.(1228-1230)ttt>T	p.F410del	ZBTB39_uc021qzg.1_In_Frame_Del_p.F410del	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCCACTGGGTAAAGAACTTAGTT	0.512												
NR1H4	9971	broad.mit.edu	37	12	100957095	100957095	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:100957094_100957094CA>C	uc001tht.2	+	8	1316	c.1288_1288CA>C	c.(1288-1290)caafs	p.Q430fs	NR1H4_uc001thq.2_Frame_Shift_Del_p.Q420fs|NR1H4_uc001thp.2_Frame_Shift_Del_p.Q416fs|NR1H4_uc001thr.2_Frame_Shift_Del_p.Q420fs|NR1H4_uc010svk.2_Frame_Shift_Del_p.Q369fs|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Frame_Shift_Del_p.Q426fs	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	430	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TGATGTGCTACAAAAGTTGTG	0.398												
FBXW8	26259	broad.mit.edu	37	12	117387463	117387464	+	Frame_Shift_Del	DEL	AC	AC	-	rs145405264		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:117387462_117387463GAC>G	uc001twg.1	+	3	710_711	c.628_629GAC>G	c.(628-630)gacfs	p.D210fs	FBXW8_uc001twf.1_Frame_Shift_Del_p.D144fs	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	210							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCATGTTCCTGACACAGTTTTG	0.520												
SBNO1	55206	broad.mit.edu	37	12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CATATCTTCCATTTTTTTTGGC	0.386												
PSPC1	55269	broad.mit.edu	37	13	20346616	20346617	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:20346615_20346616TAG>T	uc021rgx.1	-	2	577_578	c.440_441CTA>A	c.(439-441)ctafs	p.L147fs		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	147	RRM 1.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AGCGAATCCGTAGAGGTCTGCT	0.446												
SACS	26278	broad.mit.edu	37	13	23905203	23905203	+	Frame_Shift_Del	DEL	G	G	-	rs146376949	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:23905202_23905202AG>A	uc001uon.2	-	9	13402	c.12813_12813CT>T	c.(12811-12813)cctfs	p.P4271fs	SACS_uc001uoo.2_Frame_Shift_Del_p.P4124fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4271					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCTCAGGCCAGGGGTGAGGA	0.478												
DCLK1	9201	broad.mit.edu	37	13	36397008	36397008	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:36397007_36397007TC>T	uc001uvf.3	-	10	1696	c.1413_1413GA>A	c.(1411-1413)ggafs	p.G471fs	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Frame_Shift_Del_p.G164fs|DCLK1_uc010teh.2_Frame_Shift_Del_p.G164fs|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	471	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CAAAAAGGTCTCCCCCCTGAG	0.522												
TFDP1	7027	broad.mit.edu	37	13	114288217	114288218	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:114288216_114288217G>GA	uc001vtw.3	+	6	698_699	c.486_487G>GA	c.(484-489)cagaaafs	p.Q162fs	TFDP1_uc010tkd.2_Frame_Shift_Ins_p.Q67fs|TFDP1_uc010tke.2_Frame_Shift_Ins_p.Q67fs|TFDP1_uc001vty.4_Frame_Shift_Ins_p.Q162fs|TFDP1_uc010agx.3_Frame_Shift_Ins_p.Q162fs	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	162					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTTATGACCAGAAAAACATAAG	0.500										TSP Lung(29;0.18)		
SALL2	6297	broad.mit.edu	37	14	21993446	21993446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:21993445_21993445GC>G	uc001wbe.3	-	1	699	c.417_417GC>C	c.(415-417)ggcfs	p.G139fs	SALL2_uc010tly.2_Frame_Shift_Del_p.G137fs|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	139	Poly-Gly.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGATCAGGCCCCCGCCTC	0.677												
NID2	22795	broad.mit.edu	37	14	52508901	52508901	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:52508900_52508900AG>A	uc001wzo.3	-	6	1982	c.1748_1748CT>T	c.(1747-1749)ctcfs	p.L583fs	NID2_uc010tqs.2_Frame_Shift_Del_p.L583fs|NID2_uc010tqt.1_Frame_Shift_Del_p.L583fs|NID2_uc001wzp.3_Frame_Shift_Del_p.L583fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	583	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AATTGGTGTGAGGGGGAGGAG	0.582												
SAMD4A	23034	broad.mit.edu	37	14	55203892	55203892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:55203891_55203891GC>G	uc001xbb.3	+	2	1170	c.862_862GC>G	c.(862-864)gccfs	p.A288fs	SAMD4A_uc001xbc.3_Intron	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	289					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATCCGATCATGCCCCCCTGTC	0.527												
TSHR	7253	broad.mit.edu	37	14	81609513	81609513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:81609512_81609512CA>C	uc001xvd.1	+	9	1266	c.1110_1110CA>C	c.(1108-1110)ctcfs	p.L370fs		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	370					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCCAGGAGCTCAAAAACCCCC	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism					
RIN3	79890	broad.mit.edu	37	14	93118772	93118773	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:93118771_93118772G>GC	uc001yap.3	+	5	1529_1530	c.1377_1378G>GC	c.(1375-1380)ccgcccfs	p.P459fs	RIN3_uc010auk.3_Frame_Shift_Ins_p.P121fs|RIN3_uc001yaq.3_Frame_Shift_Ins_p.P384fs|RIN3_uc001yar.1_Frame_Shift_Ins_p.P121fs|RIN3_uc001yas.1_Frame_Shift_Ins_p.P121fs	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	459	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCCAGTCCCGCCCCCCAGGAA	0.624												
PPP1R13B	23368	broad.mit.edu	37	14	104208418	104208418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:104208417_104208417TG>T	uc001yof.1	-	10	1815	c.1532_1532CA>A	c.(1531-1533)cagfs	p.Q511fs	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Frame_Shift_Del_p.Q378fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	511	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.Q511fs*39(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAGCCTGGCTGGGGGGTGCT	0.647												
ARHGAP11A	9824	broad.mit.edu	37	15	32925296	32925297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:32925295_32925296C>CA	uc001zgy.1	+	8	1943_1944	c.1221_1222C>CA	c.(1219-1224)ggcaaafs	p.G407fs	ARHGAP11A_uc010ubw.1_Frame_Shift_Ins_p.G218fs|ARHGAP11A_uc001zgw.3_Frame_Shift_Ins_p.G407fs|ARHGAP11A_uc010ubx.1_Frame_Shift_Ins_p.G218fs	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	407					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAATTGCAGGCAAAAAAGTTTG	0.386												
C15orf53	400359	broad.mit.edu	37	15	38988857	38988858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:38988856_38988857T>TC	uc001zkf.1	+	0	58_59	c.48_49T>TC	c.(46-51)agtcccfs	p.S16fs		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	16										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		CCCTCTCTAGTCCCCGGAGGAA	0.559												
BUB1B	701	broad.mit.edu	37	15	40477506	40477506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:40477505_40477505AC>A	uc001zkx.4	+	6	1103	c.891_891AC>A	c.(889-891)gcafs	p.A297fs	BUB1B_uc010ucl.1_Frame_Shift_Del_p.A160fs	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATGGATAGCACCCCCCATGC	0.478			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome			
PLCB2	5330	broad.mit.edu	37	15	40589757	40589757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:40589756_40589756TC>T	uc001zld.3	-	12	1590	c.1289_1289GA>A	c.(1288-1290)gatfs	p.D430fs	PLCB2_uc010bbo.3_Frame_Shift_Del_p.D430fs|PLCB2_uc010ucm.2_Frame_Shift_Del_p.D430fs	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	430	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGCAGCATATCCCCAAAGAT	0.607												
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:40631781_40631781TC>T	uc001zlh.4	-	2	311	c.295_295GA>A	c.(295-297)atgfs	p.M99fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	99								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGC	0.647												
DMXL2	23312	broad.mit.edu	37	15	51778519	51778519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:51778518_51778518AT>A	uc010ufy.2	-	22	5459	c.5234_5234AT>T	c.(5233-5235)atgfs	p.M1745fs	DMXL2_uc002abf.3_Frame_Shift_Del_p.M1745fs|DMXL2_uc010bfa.3_Frame_Shift_Del_p.M1109fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1745						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATATCTTCCATTTTTTCAAG	0.294												
SLTM	79811	broad.mit.edu	37	15	59182636	59182637	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:59182635_59182636GCT>G	uc002afp.3	-	14	2011_2012	c.1923_1924AGC>C	c.(1921-1926)gagcgtfs	p.E641fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E183fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E623fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E210fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E210fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	641	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCTCTCGACGCTCTCTCTCTG	0.396												
GRAMD2	196996	broad.mit.edu	37	15	72459395	72459396	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:72459394_72459395G>GT	uc002atq.3	-	5	435_436	c.411_412C>AC	c.(409-414)aaacacfs	p.K137fs	GRAMD2_uc010bis.2_Frame_Shift_Ins_p.K137fs	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	137	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GCCATCTTGTGTTTTTTGATCA	0.564												
FBXO22	26263	broad.mit.edu	37	15	76225439	76225440	+	In_Frame_Ins	INS	-	-	AAT			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:76225438_76225439A>AAAT	uc002bbk.3	+	6	1312_1313	c.1207_1208A>AAAT	c.(1207-1209)aaa>AAATa	p.K403K	FBXO22_uc002bbl.3_In_Frame_Ins_p.K299K|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	403					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	p.K403R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGGTCATCTAAATAATAATTA	0.322												
CHSY1	22856	broad.mit.edu	37	15	101717648	101717648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:101717647_101717647AT>A	uc021sxt.1	-	2	2831	c.2355_2355AT>T	c.(2353-2355)aatfs	p.N785fs	CHSY1_uc010usd.2_Frame_Shift_Del_p.N513fs	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	785					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTTGGATCATTTTTTTCCA	0.423												
TARSL2	123283	broad.mit.edu	37	15	102224292	102224292	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:102224291_102224291CA>C	uc002bxm.3	-	11	1692	c.1637_1637TG>G	c.(1636-1638)tgcfs	p.C546fs	TARSL2_uc002bxl.3_Frame_Shift_Del_p.C91fs|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	546					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCACTGTGCAAAAAATGTG	0.468												
ZNF174	7727	broad.mit.edu	37	16	3452111	3452112	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3452110_3452111C>CA	uc002cvc.3	+	0	921_922	c.106_107C>CA	c.(106-108)caafs	p.Q36fs	ZNF434_uc002cux.4_5'Flank|ZNF434_uc010uwx.2_5'Flank|ZNF434_uc002cuy.4_5'Flank|ZNF434_uc002cuz.3_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Frame_Shift_Ins_p.Q36fs|ZNF174_uc002cvb.3_Frame_Shift_Ins_p.Q36fs	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	36					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCTCCTCTGCAAAAAAACTGC	0.500												
MGRN1	23295	broad.mit.edu	37	16	4700414	4700414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4700413_4700413AC>A	uc002cxa.3	+	1	273	c.136_136AC>A	c.(136-138)accfs	p.T46fs	MGRN1_uc002cwz.3_Frame_Shift_Del_p.T46fs|MGRN1_uc010uxo.2_Frame_Shift_Del_p.T46fs|MGRN1_uc010uxp.2_Frame_Shift_Del_p.T46fs|MGRN1_uc010btw.3_Frame_Shift_Del_p.T46fs|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	46					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATTCGACACCCCCCACCC	0.463												
SRCAP	10847	broad.mit.edu	37	16	30749699	30749699	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:30749698_30749698TG>T	uc002dze.1	+	33	8722	c.8337_8337TG>T	c.(8335-8337)cctfs	p.P2779fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P2574fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2779	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCTAGTGCCTGGGGTCTCTG	0.647												
SLC5A2	6524	broad.mit.edu	37	16	31496148	31496149	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:31496147_31496148CCT>C	uc002ecf.4	+	2	225_226	c.206_207CCT>C	c.(205-207)gccfs	p.A69fs	SLC5A2_uc010car.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	69					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.L71fs*47(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CAGGTTGGGGCCTCTCTCTTCG	0.653												
DHX38	9785	broad.mit.edu	37	16	72130798	72130799	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:72130797_72130798CAG>C	uc002fcb.3	+	2	755_756	c.400_401CAG>C	c.(400-402)cagfs	p.Q134fs	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	134					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACGCAGTCGGCAGAGAGAGCGG	0.545												
MAP2K4	6416	broad.mit.edu	37	17	11998923	11998923	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:11998922_11998922CA>C	uc002gnj.3	+	3	493	c.424_424CA>C	c.(424-426)caafs	p.Q142fs	MAP2K4_uc002gnk.3_Frame_Shift_Del_p.Q153fs|MAP2K4_uc010vvi.2_Frame_Shift_Del_p.Q24fs|MAP2K4_uc010vvj.2_Frame_Shift_Del_p.Q14fs	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	142	Protein kinase.		Q -> L (in a lung squamous cell carcinoma sample; somatic mutation).		JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.Q142L(1)|p.?(1)|p.E141K(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGAAAAAGAACAAAAACAACT	0.333			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""							
NUFIP2	57532	broad.mit.edu	37	17	27614342	27614342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:27614341_27614341CT>C	uc002hdy.4	-	1	760	c.671_671AG>G	c.(670-672)aggfs	p.R224fs	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	224						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCTAGCTTTCCTTTTTTTAGG	0.383												
PEX12	5193	broad.mit.edu	37	17	33905039	33905040	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:33905038_33905039CAT>C	uc002hjp.3	-	0	618_619	c.2_3ATG>G	c.(1-3)atgfs	p.M1fs		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	1					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGTGCTCAGCCATAGTTTCCTG	0.500												
MED24	9862	broad.mit.edu	37	17	38188962	38188963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38188961_38188962G>GC	uc002hts.3	-	7	1151_1152	c.951_952C>GC	c.(949-954)gggctcfs	p.G317fs	MED24_uc010wes.2_Frame_Shift_Ins_p.G152fs|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Frame_Shift_Ins_p.G292fs|MED24_uc002htu.3_Frame_Shift_Ins_p.G279fs|MED24_uc010cwn.3_Frame_Shift_Ins_p.G279fs|MED24_uc010weu.2_Frame_Shift_Ins_p.G202fs|MED24_uc010wev.1_Frame_Shift_Ins_p.G242fs|MED24_uc010wew.1_Frame_Shift_Ins_p.G221fs|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Frame_Shift_Ins_p.G133fs|MED24_uc010wfa.1_Frame_Shift_Ins_p.G261fs|MED24_uc010wfb.1_Frame_Shift_Ins_p.G304fs	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	292					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.V316I(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GACTCAATGAGCCCCACGAAGC	0.574												
KRT222	125113	broad.mit.edu	37	17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38818271_38818271AT>A	uc002hvc.2	-	1	187	c.122_122AT>T	c.(121-123)atgfs	p.M41fs	KRT222_uc002hvb.2_Frame_Shift_Del_p.M1fs|KRT222_uc010cxc.3_Frame_Shift_Del_p.M1fs	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	41						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						ATCTTTGTCCATTTTTTTGCT	0.428												
KRT26	353288	broad.mit.edu	37	17	38926516	38926517	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38926515_38926516C>CT	uc002hvf.3	-	2	716_717	c.670_671G>AG	c.(670-672)agtfs	p.S224fs		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	224	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCCTCATGACTTTTTTTGAGG	0.460												
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGC	0.632												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433968	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:48433966_48433967ACC>A	uc002iqo.3	+	7	1686_1687	c.1577_1578ACC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGCA	0.604												
ACE	1636	broad.mit.edu	37	17	61571754	61571754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:61571753_61571753GC>G	uc002jau.2	+	21	3336	c.3302_3302GC>G	c.(3301-3303)tgcfs	p.C1101fs	ACE_uc010wpj.2_Frame_Shift_Del_p.C527fs|ACE_uc010ddv.2_Frame_Shift_Del_p.C328fs|ACE_uc002jav.2_Frame_Shift_Del_p.C527fs|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Frame_Shift_Del_p.C347fs	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1101	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGGGCCTCTGCCCCCCAGTG	0.562												
DCAF7	10238	broad.mit.edu	37	17	61657219	61657219	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:61657218_61657218TG>T	uc002jbc.3	+	3	659	c.442_442TG>T	c.(442-444)tggfs	p.W148fs	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	148					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						ATGCACCATCTGGGGGCTGGA	0.537												
SLC16A6	9120	broad.mit.edu	37	17	66270150	66270151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:66270149_66270150G>GC	uc002jha.2	-	3	607_608	c.294_295C>GC	c.(292-297)gggctafs	p.G98fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Ins_p.G98fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	98						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535												
ABCA6	23460	broad.mit.edu	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			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)					ATAAGCCATATAAAAAAAAGA	0.303												
ST6GALNAC1	55808	broad.mit.edu	37	17	74625215	74625215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74625214_74625214AG>A	uc002jsh.3	-	1	885	c.711_711CT>T	c.(709-711)cctfs	p.P237fs	ST6GALNAC1_uc002jsi.3_Frame_Shift_Del_p.P105fs|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	237					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGAAAGGGGCAGGGGGTGGGG	0.552												
SEC14L1	6397	broad.mit.edu	37	17	75208264	75208266	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:75208263_75208265AAAG>A	uc010dhc.3	+	14	2163_2165	c.1843_1845AAAG>A	c.(1843-1845)aaa>A	p.K615del	SEC14L1_uc021udw.1_In_Frame_Del_p.K615del|SEC14L1_uc021udx.1_In_Frame_Del_p.K615del|SEC14L1_uc002jto.3_In_Frame_Del_p.K615del|SEC14L1_uc010wth.2_In_Frame_Del_p.K615del|SEC14L1_uc002jtm.3_In_Frame_Del_p.K615del|SEC14L1_uc010wti.2_In_Frame_Del_p.K581del|SEC14L1_uc010wtj.1_In_Frame_Del_p.R106del|SEC14L1_uc002jtr.2_In_Frame_Del_p.K9del	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	615	GOLD.				transport	Golgi apparatus|integral to membrane	binding	p.P611fs*11(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTGATCTGCAAAGAAGGAGAAA	0.542												
TMC8	147138	broad.mit.edu	37	17	76134212	76134213	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:76134211_76134212G>GC	uc002jup.2	+	11	1857_1858	c.1475_1476G>GC	c.(1474-1476)tgcfs	p.C492fs	TMC8_uc002juq.2_Frame_Shift_Ins_p.C269fs|TMC8_uc010wtr.1_Frame_Shift_Ins_p.L197fs|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	492						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTCTTCTACTGCCCCCTGCTGC	0.619												
ESCO1	114799	broad.mit.edu	37	18	19154054	19154054	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:19154053_19154053AT>A	uc002kth.1	-	3	1686	c.752_752AT>T	c.(751-753)atgfs	p.M251fs	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	251					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAAGTAGCCATTTTTGATCT	0.428												
NPC1	4864	broad.mit.edu	37	18	21118569	21118569	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:21118568_21118568TC>T	uc002kum.4	-	19	3253	c.2979_2979GA>A	c.(2977-2979)ggafs	p.G993fs	NPC1_uc010xaz.2_Frame_Shift_Del_p.G726fs	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	993					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCATGAAGTCTCCCCCCTGAG	0.562												
SERPINB2	5055	broad.mit.edu	37	18	61600331	61600331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:61600330_61600330AT>A	uc010xev.2	+	6	772	c.682_682AT>A	c.(682-684)attfs	p.I228fs	SERPINB2_uc010xew.2_Frame_Shift_Del_p.I228fs	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	243					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAAGCTTCACATTTTTCACAT	0.368												
CCDC102B	79839	broad.mit.edu	37	18	66504103	66504103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:66504102_66504102AC>A	uc002lkk.2	+	3	325	c.102_102AC>A	c.(100-102)tcafs	p.S34fs	CCDC102B_uc002lki.2_Frame_Shift_Del_p.S34fs|CCDC102B_uc002lkj.1_Frame_Shift_Del_p.S34fs	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	34										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CACCTGCCTCACCCCCCAGGG	0.453												
LRRC8E	80131	broad.mit.edu	37	19	7964763	7964764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7964762_7964763T>TC	uc002mir.3	+	2	1456_1457	c.1355_1356T>TC	c.(1354-1356)ttcfs	p.F452fs		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	452						integral to membrane		p.P454fs*33(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GATATCACCTTCCCCCCGGGGC	0.644												
OR7D2	162998	broad.mit.edu	37	19	9296725	9296726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:9296724_9296725C>CA	uc002mkz.1	+	0	455_456	c.267_268C>CA	c.(265-270)aacaaafs	p.N89fs		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	89					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						AGACCGAGAACAAAGCCATCTC	0.505												
ZNF490	57474	broad.mit.edu	37	19	12692077	12692077	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:12692076_12692076AT>A	uc002mtz.2	-	4	942	c.813_813AT>T	c.(811-813)aatfs	p.N271fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCCAGTGTGATTTTTTTCAT	0.413												
NOTCH3	4854	broad.mit.edu	37	19	15273307	15273308	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:15273306_15273307A>AT	uc002nan.3	-	31	5958_5959	c.5882_5883T>AT	c.(5881-5883)aatfs	p.N1961fs		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1961					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TATTGGCTCCATTTTTGAGCAG	0.574												
C19orf44	84167	broad.mit.edu	37	19	16620329	16620329	+	Frame_Shift_Del	DEL	A	A	-	rs3826726		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:16620328_16620328CA>C	uc002neh.1	+	4	1241	c.1168_1168CA>C	c.(1168-1170)caafs	p.Q390fs	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Frame_Shift_Del_p.Q390fs|C19orf44_uc002neg.3_Frame_Shift_Del_p.Q390fs|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	390										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGCTCAGAGACAAAAAACAGC	0.552												
CRTC1	23373	broad.mit.edu	37	19	18887993	18887994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18887992_18887993T>TC	uc010ebv.3	+	14	1841_1842	c.1753_1754T>TC	c.(1753-1755)tccfs	p.S585fs	CRTC1_uc002nkb.4_Frame_Shift_Ins_p.S569fs|CRTC1_uc010ebw.3_Frame_Shift_Ins_p.S405fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	569					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GACAGGAGAGTCCCCCCCCAGC	0.639												
SLC7A10	56301	broad.mit.edu	37	19	33703794	33703794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:33703793_33703793TG>T	uc002num.2	-	2	619	c.472_472CA>A	c.(472-474)accfs	p.T158fs	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Frame_Shift_Del_p.T131fs	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	158					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATG	0.637												
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627												
ZNF546	339327	broad.mit.edu	37	19	40512087	40512088	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40512086_40512087C>CA	uc002oms.2	+	3	424_425	c.168_169C>CA	c.(166-171)gccaatfs	p.A56fs	ZNF546_uc002omt.2_Frame_Shift_Ins_p.A30fs	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAACCATGGCCAATGTAAGTTT	0.421												
HNRNPUL1	11100	broad.mit.edu	37	19	41808818	41808818	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41808817_41808817AG>A	uc002oqb.4	+	11	2224	c.1935_1935AG>A	c.(1933-1935)cgafs	p.R645fs	HNRNPUL1_uc002opz.4_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc002oqa.4_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010ehm.3_Frame_Shift_Del_p.R645fs|HNRNPUL1_uc002oqc.4_Frame_Shift_Del_p.R531fs|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010ehn.3_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010xvy.2_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010ehp.3_Frame_Shift_Del_p.R501fs|HNRNPUL1_uc002oqf.4_Frame_Shift_Del_p.R169fs	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	645	5 X 3 AA repeats of R-G-G.|Gly-rich.|Necessary for interaction with TP53.|Necessary for transcription repression.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCAGAACCGAGGGGGAGGCA	0.642												
HNRNPUL1	11100	broad.mit.edu	37	19	41811722	41811722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41811721_41811721AC>A	uc002oqb.4	+	13	2692	c.2403_2403AC>A	c.(2401-2403)ccafs	p.P801fs	HNRNPUL1_uc002opz.4_Frame_Shift_Del_p.P701fs|HNRNPUL1_uc002oqa.4_Frame_Shift_Del_p.P711fs|HNRNPUL1_uc010ehm.3_Intron|HNRNPUL1_uc002oqc.4_Frame_Shift_Del_p.P697fs|HNRNPUL1_uc002oqe.4_Frame_Shift_Del_p.P110fs|HNRNPUL1_uc002oqd.4_Frame_Shift_Del_p.P701fs|HNRNPUL1_uc010ehn.3_Frame_Shift_Del_p.P711fs|HNRNPUL1_uc010xvy.2_Frame_Shift_Del_p.P701fs|HNRNPUL1_uc010ehp.3_Intron|HNRNPUL1_uc002oqf.4_Frame_Shift_Del_p.P335fs	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	801	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding	p.P800P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCCACCGCCACCCCCCACTG	0.637												
MEIS3	56917	broad.mit.edu	37	19	47918126	47918127	+	Splice_Site	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:47918125_47918126T>TG	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCGTGGACCTGGGGGGGCACC	0.683												
PCSK2	5126	broad.mit.edu	37	20	17208071	17208071	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:17208070_17208070AG>A	uc002wpm.3	+	0	474	c.120_120AG>A	c.(118-120)aaafs	p.K40fs	PCSK2_uc002wpl.3_Frame_Shift_Del_p.K21fs|PCSK2_uc010zrm.2_Frame_Shift_Del_p.K40fs	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	40					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTTGCATAAAGGGGGAGAGG	0.532												
SLPI	6590	broad.mit.edu	37	20	43881731	43881731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43881730_43881730TG>T	uc002xnm.1	-	2	329	c.307_307CA>A	c.(307-309)aatfs	p.N103fs		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTA	0.537												
ZNF295	49854	broad.mit.edu	37	21	43411084	43411084	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:43411083_43411083CT>C	uc021wjo.1	-	0	3122	c.3122_3122AG>G	c.(3121-3123)agafs	p.R1041fs	ZNF295_uc002yzz.4_Frame_Shift_Del_p.R840fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.R1041fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.R1041fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.R1041fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	1041					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CATAAACTGTCTTTTAAATGT	0.413												
ZNF295	49854	broad.mit.edu	37	21	43413187	43413187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:43413186_43413186AG>A	uc021wjo.1	-	0	1019	c.1019_1019CT>T	c.(1018-1020)ctcfs	p.L340fs	ZNF295_uc002yzz.4_Frame_Shift_Del_p.L340fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.L340fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.L340fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.L340fs|ZNF295_uc010gov.1_Frame_Shift_Del_p.L340fs|ZNF295_uc002zac.2_Frame_Shift_Del_p.L340fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	340					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TGACCGTCTGAGGAGACTCTT	0.463												
LSS	4047	broad.mit.edu	37	21	47626623	47626624	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47626622_47626623G>GC	uc002zij.3	-	15	1606_1607	c.1527_1528C>GC	c.(1525-1530)gggcacfs	p.G509fs	LSS_uc002zil.2_Frame_Shift_Ins_p.G509fs|LSS_uc011afv.1_Frame_Shift_Ins_p.G498fs|LSS_uc002zik.2_Frame_Shift_Ins_p.G429fs	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599												
SLC7A4	6545	broad.mit.edu	37	22	21384035	21384035	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:21384034_21384034GC>G	uc002zud.3	-	2	1657	c.1589_1589GC>C	c.(1588-1590)gctfs	p.A530fs	SLC7A4_uc002zue.3_Frame_Shift_Del_p.A530fs	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	530					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGCTGGTGAGCCCCCAGGAC	0.592												
SGSM1	129049	broad.mit.edu	37	22	25294150	25294151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:25294149_25294150A>AC	uc003abg.2	+	19	2555_2556	c.2398_2399A>AC	c.(2398-2400)accfs	p.T800fs	SGSM1_uc010guu.1_Frame_Shift_Ins_p.T745fs|SGSM1_uc003abh.2_Frame_Shift_Ins_p.T739fs|SGSM1_uc003abj.2_Frame_Shift_Ins_p.T684fs|SGSM1_uc003abi.1_Frame_Shift_Ins_p.T720fs	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	800	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCAGCGGAACACCCCCACGGTG	0.634												
ATF4	468	broad.mit.edu	37	22	39917951	39917952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:39917950_39917951G>GC	uc003axz.3	+	2	679_680	c.399_400G>GC	c.(397-402)cagcccfs	p.Q133fs	ATF4_uc011aol.1_Frame_Shift_Ins_p.Q45fs|ATF4_uc003aya.3_Frame_Shift_Ins_p.Q133fs|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525												
ZNF41	7592	broad.mit.edu	37	X	47308259	47308259	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:47308258_47308258CT>C	uc004dhs.4	-	3	1104	c.1037_1037AG>G	c.(1036-1038)agcfs	p.S346fs	ZNF41_uc004dhu.4_Frame_Shift_Del_p.S338fs|ZNF41_uc004dht.4_Frame_Shift_Del_p.S218fs|ZNF41_uc004dhv.4_Frame_Shift_Del_p.S314fs|ZNF41_uc004dhw.4_Frame_Shift_Del_p.S306fs|ZNF41_uc004dhy.4_Frame_Shift_Del_p.S304fs|ZNF41_uc004dhx.4_Frame_Shift_Del_p.S304fs|ZNF41_uc011mlm.2_Frame_Shift_Del_p.S218fs	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	346						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GACTTTGTTGCTTTTGTCACA	0.423												
MAGED1	9500	broad.mit.edu	37	X	51643311	51643312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:51643310_51643311A>AC	uc004dpn.3	+	11	2235_2236	c.2045_2046A>AC	c.(2044-2046)aacfs	p.N682fs	MAGED1_uc004dpm.3_Frame_Shift_Ins_p.N626fs|MAGED1_uc004dpo.3_Frame_Shift_Ins_p.N626fs	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	626					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCCAACAGCAACCCCCCGGAGT	0.480										Multiple Myeloma(10;0.10)		
FAM155B	27112	broad.mit.edu	37	X	68725672	68725673	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:68725671_68725672C>CA	uc004dxk.3	+	0	594_595	c.546_547C>CA	c.(544-549)gccaaafs	p.A182fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	182						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCTCCGCCAAAAAAAACTT	0.589												
ZCCHC12	170261	broad.mit.edu	37	X	117959607	117959608	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:117959606_117959607A>AT	uc004equ.3	+	3	872_873	c.399_400A>AT	c.(397-402)aaatttfs	p.K133fs	ZCCHC12_uc022cdh.1_Frame_Shift_Ins_p.K133fs	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cccatggtaaattttttaacac	0.480												
F9	2158	broad.mit.edu	37	X	138644078	138644079	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:138644077_138644078T>TG	uc004fas.1	+	7	1262_1263	c.1233_1234T>TG	c.(1231-1236)agtgggfs	p.S411fs	F9_uc004fat.1_Frame_Shift_Ins_p.S373fs	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	411	Peptidase S1.		S -> G (in HEMB; Varel).|S -> I (in HEMB; Schmallenberg).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.S411R(2)|p.D410E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AAGGAGATAGTGGGGGACCCCA	0.436