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
TTLL10	254173	broad.mit.edu	37	1	1118373	1118373	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:1118373A>G	uc001acy.2	+	11	1185	c.1034A>G	c.(1033-1035)GAC>GGC	p.D345G	TTLL10_uc010nyg.1_Missense_Mutation_p.D345G|TTLL10_uc001acz.1_Missense_Mutation_p.D272G	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	345	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	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;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|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;0.199)		ATGGAGGACGACCCCATCCAC	0.692												
CCNL2	81669	broad.mit.edu	37	1	1333712	1333712	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:1333712A>G	uc001afi.2	-	3	406	c.374T>C	c.(373-375)ATG>ACG	p.M125T	CCNL2_uc001afg.1_5'UTR|CCNL2_uc001afh.2_Missense_Mutation_p.M125T|CCNL2_uc001afj.2_Missense_Mutation_p.M125T|CCNL2_uc001afk.2_Missense_Mutation_p.M125T|LOC148413_uc001afm.2_5'Flank|LOC148413_uc001afn.1_5'Flank|LOC148413_uc009vkc.1_5'Flank|LOC148413_uc009vkd.2_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	125	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	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)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GACACAGGCCATTGACACATG	0.552												
GABRD	2563	broad.mit.edu	37	1	1961102	1961102	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:1961102C>T	uc001aip.2	+	8	1055	c.960C>T	c.(958-960)TTC>TTT	p.F320F		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	320	Helical; (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTATGTCTTCGTGTTTGCCG	0.587												
SKI	6497	broad.mit.edu	37	1	2235477	2235477	+	Silent	SNP	C	C	T	rs150985728	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:2235477C>T	uc001aja.3	+	4	1482	c.1410C>T	c.(1408-1410)CCC>CCT	p.P470P		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	470					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)		CGCTGGCGCCCGTGGCTGCCC	0.667												
PRDM16	63976	broad.mit.edu	37	1	3328391	3328391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:3328391G>A	uc001akf.2	+	9	1710	c.1630G>A	c.(1630-1632)GAC>AAC	p.D544N	PRDM16_uc001akc.2_Missense_Mutation_p.D544N|PRDM16_uc001akd.2_Missense_Mutation_p.D544N|PRDM16_uc001ake.2_Missense_Mutation_p.D544N|PRDM16_uc009vlh.2_Missense_Mutation_p.D245N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	544	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCACACCCAGGACGCCAAGCT	0.701			T	EVI1	MDS|AML							
PRDM16	63976	broad.mit.edu	37	1	3328975	3328975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:3328975C>A	uc001akf.2	+	9	2294	c.2214C>A	c.(2212-2214)TAC>TAA	p.Y738*	PRDM16_uc001akc.2_Nonsense_Mutation_p.Y738*|PRDM16_uc001akd.2_Nonsense_Mutation_p.Y738*|PRDM16_uc001ake.2_Nonsense_Mutation_p.Y738*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.Y439*	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	738	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACTCCCTTTACCCCTTCACGG	0.667			T	EVI1	MDS|AML							
CAMTA1	23261	broad.mit.edu	37	1	7527916	7527916	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:7527916C>T	uc001aoi.2	+	6	672	c.465C>T	c.(463-465)TCC>TCT	p.S155S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	155	CG-1.				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)		ATGTCCATTCCTCCATCATCC	0.468												
SLC2A5	6518	broad.mit.edu	37	1	9099965	9099965	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:9099965G>A	uc001apo.2	-	7	1071	c.779C>T	c.(778-780)GCG>GTG	p.A260V	SLC2A5_uc010nzy.1_Missense_Mutation_p.A201V|SLC2A5_uc010nzz.1_Missense_Mutation_p.A145V|SLC2A5_uc010oaa.1_Missense_Mutation_p.A216V|SLC2A5_uc010oab.1_Missense_Mutation_p.A260V	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	260	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAAGCCCGCGGCCTTCTC	0.677												
TMEM201	199953	broad.mit.edu	37	1	9656056	9656056	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:9656056C>T	uc001apz.2	+	2	234	c.222C>T	c.(220-222)AAC>AAT	p.N74N	TMEM201_uc001apy.2_Silent_p.N74N	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	74						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)		AGCAGTACAACGGCTTCCAGG	0.622												
APITD1	378708	broad.mit.edu	37	1	10493999	10493999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:10493999C>T	uc001are.2	+	2	568	c.152C>T	c.(151-153)TCG>TTG	p.S51L	APITD1_uc001arf.2_Missense_Mutation_p.S51L|APITD1_uc001arg.2_Silent_p.F130F|APITD1_uc001arh.2_Missense_Mutation_p.S12L	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1 isoform	51					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCGGCCATTTCGGAGCTGACT	0.522												
CASZ1	54897	broad.mit.edu	37	1	10703273	10703273	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:10703273G>A	uc001aro.2	-	19	4284	c.3964C>T	c.(3964-3966)CGG>TGG	p.R1322W		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1322	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ATGTGCTTCCGCGCGTGGGAG	0.642												
MTOR	2475	broad.mit.edu	37	1	11308061	11308061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:11308061G>A	uc001asd.2	-	7	1052	c.931C>T	c.(931-933)CGT>TGT	p.R311C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	311					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GTAATGTGACGAGGTTTTGTT	0.512												
MTHFR	4524	broad.mit.edu	37	1	11854789	11854789	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:11854789C>T	uc001atc.1	-	7	1347	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H	MTHFR_uc001atb.1_Missense_Mutation_p.R411H	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	388					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CCCTCACCAGCGGCCGTTAGG	0.562												
PRDM2	7799	broad.mit.edu	37	1	14105788	14105788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:14105788C>T	uc001avi.2	+	8	2354	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.R500W|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.R257W|PRDM2_uc001avk.2_Missense_Mutation_p.R299W|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	500	C2H2-type 3.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAATATGAGACGGCATCAGCG	0.458												
TAS1R2	80834	broad.mit.edu	37	1	19181096	19181096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:19181096G>A	uc001bba.1	-	3	869	c.868C>T	c.(868-870)CGC>TGC	p.R290C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	290	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AAGTTCTGGCGCAGCACCTCA	0.632												
UBR4	23352	broad.mit.edu	37	1	19487483	19487483	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:19487483A>C	uc001bbi.2	-	38	5338	c.5334T>G	c.(5332-5334)GCT>GCG	p.A1778A	UBR4_uc001bbm.1_Silent_p.A989A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1778					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTTCGTCAGCAACCTTTC	0.547												
AKR7L	246181	broad.mit.edu	37	1	19593833	19593833	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:19593833C>A	uc010ocx.1	-	8	957	c.957G>T	c.(955-957)TGG>TGT	p.W319C	AKR7L_uc010ocy.1_3'UTR	NM_201252	NP_957704			aflatoxin B1 aldehyde reductase 3 isoform 1												0						CAAACAAATGCCAGGCTTGAT	0.562												
C1QA	712	broad.mit.edu	37	1	22965798	22965798	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:22965798T>C	uc001bfy.2	+	3	721	c.636T>C	c.(634-636)GGT>GGC	p.G212G	C1QA_uc001bfz.2_Silent_p.G212G	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	212	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCAGCAGGGTGACCAGGTCT	0.597												
ARID1A	8289	broad.mit.edu	37	1	27099909	27099909	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:27099909C>T	uc001bmv.1	+	15	4161	c.3788C>T	c.(3787-3789)GCT>GTT	p.A1263V	ARID1A_uc001bmt.1_Missense_Mutation_p.A1262V|ARID1A_uc001bmu.1_Missense_Mutation_p.A1263V|ARID1A_uc001bmw.1_Missense_Mutation_p.A880V|ARID1A_uc001bmx.1_Missense_Mutation_p.A109V|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1263					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	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		TACAGTCGTGCTGCCGGCCCT	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
EPB41	2035	broad.mit.edu	37	1	29365854	29365854	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:29365854A>G	uc001brm.1	+	10	1559	c.1552A>G	c.(1552-1554)AGG>GGG	p.R518G	EPB41_uc001brg.1_Missense_Mutation_p.R309G|EPB41_uc001brh.1_Missense_Mutation_p.R309G|EPB41_uc001bri.1_Missense_Mutation_p.R483G|EPB41_uc001brj.1_Missense_Mutation_p.R309G|EPB41_uc009vtk.1_Missense_Mutation_p.R483G|EPB41_uc001brk.2_Missense_Mutation_p.R518G|EPB41_uc001brl.1_Missense_Mutation_p.R518G|EPB41_uc009vtl.1_Missense_Mutation_p.R309G|EPB41_uc009vtm.1_Missense_Mutation_p.R151G	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	518	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)		AGCTCAGACCAGGCAAGCTAG	0.498												
ZNF362	149076	broad.mit.edu	37	1	33745971	33745971	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:33745971C>T	uc001bxc.1	+	5	766	c.596C>T	c.(595-597)GCG>GTG	p.A199V		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGATCAAGGCGGAGAACCCG	0.652												
C1orf94	84970	broad.mit.edu	37	1	34666581	34666581	+	Silent	SNP	C	C	T	rs145466967		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:34666581C>T	uc001bxs.3	+	3	1047	c.648C>T	c.(646-648)AGC>AGT	p.S216S	C1orf94_uc001bxt.2_Silent_p.S406S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	216							protein binding				0		Myeloproliferative disorder(586;0.0393)				AGAACCCAAGCGGGCAGCCGA	0.587												
ZC3H12A	80149	broad.mit.edu	37	1	37949047	37949047	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:37949047G>T	uc001cbb.3	+	6	1785	c.1635G>T	c.(1633-1635)AGG>AGT	p.R545S	ZC3H12A_uc001cbc.1_Missense_Mutation_p.R340S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	545					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGTGGGGCAGGGCAGGCAGCC	0.652												
GNL2	29889	broad.mit.edu	37	1	38034527	38034527	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:38034527T>G	uc001cbk.2	-	13	1956	c.1793A>C	c.(1792-1794)AAA>ACA	p.K598T		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	598					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				ATCCAGTGCTTTAATAACGGC	0.428												
HYI	81888	broad.mit.edu	37	1	43916935	43916935	+	Missense_Mutation	SNP	G	G	A	rs142109071		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:43916935G>A	uc001cjo.2	-	8	978	c.808C>T	c.(808-810)CGG>TGG	p.R270W	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_3'UTR|HYI_uc001cjn.2_3'UTR|HYI_uc001cjp.2_Missense_Mutation_p.R197W	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	270							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGTGGCCCCGCCTATCCCAG	0.612												
TESK2	10420	broad.mit.edu	37	1	45813321	45813321	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:45813321A>G	uc001cns.1	-	7	1071	c.668T>C	c.(667-669)ATG>ACG	p.M223T	TESK2_uc009vxr.1_Missense_Mutation_p.M223T|TESK2_uc010olo.1_Missense_Mutation_p.M140T|TESK2_uc009vxs.1_Missense_Mutation_p.M15T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	223	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTCAGGTGCCATCCAGAATGG	0.443												
LRRC41	10489	broad.mit.edu	37	1	46744617	46744617	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:46744617G>A	uc001cpn.2	-	10	2403	c.2359C>T	c.(2359-2361)CGG>TGG	p.R787W		NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	787										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCGGAGCCGCCGGATGGCT	0.617												
SLC5A9	200010	broad.mit.edu	37	1	48688549	48688549	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:48688549C>T	uc001cro.2	+	1	193	c.141C>T	c.(139-141)TTC>TTT	p.F47F	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.F47F|SLC5A9_uc010omt.1_Silent_p.F40F|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	47	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						ACTTTGTCTTCGTCATTGCTG	0.602												
SLC5A9	200010	broad.mit.edu	37	1	48701407	48701407	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:48701407G>A	uc001cro.2	+	10	1200	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R408Q|SLC5A9_uc010omt.1_Missense_Mutation_p.R397Q|SLC5A9_uc001crp.2_Missense_Mutation_p.R50Q|SLC5A9_uc010omu.1_Missense_Mutation_p.R50Q	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	383	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCAGGTCTGCGGGGGCTGATG	0.582												
ZCCHC11	23318	broad.mit.edu	37	1	52927267	52927267	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:52927267A>G	uc001ctx.2	-	18	3383	c.3149T>C	c.(3148-3150)ATA>ACA	p.I1050T	ZCCHC11_uc001cty.2_Missense_Mutation_p.I1050T|ZCCHC11_uc001ctz.2_Missense_Mutation_p.I1050T|ZCCHC11_uc009vze.1_Missense_Mutation_p.I1050T|ZCCHC11_uc009vzf.1_Missense_Mutation_p.I809T|ZCCHC11_uc001cua.1_5'UTR	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1050					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						GGCAGTAGTTATAGGCAAAAT	0.269												
USP24	23358	broad.mit.edu	37	1	55559693	55559693	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:55559693G>A	uc001cyg.3	-	49	5791	c.5791C>T	c.(5791-5793)CGG>TGG	p.R1931W		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2091					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						ATAGACAGCCGGTCATTGTTC	0.438												
DNAJC6	9829	broad.mit.edu	37	1	65852530	65852530	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:65852530C>A	uc001dcd.1	+	8	1024	c.860C>A	c.(859-861)CCC>CAC	p.P287H	DNAJC6_uc001dcc.1_Missense_Mutation_p.P318H|DNAJC6_uc010opc.1_Missense_Mutation_p.P274H|DNAJC6_uc001dce.1_Missense_Mutation_p.P344H	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	287	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						ATCTTCATTCCCTTGAACATC	0.423												
MIER1	57708	broad.mit.edu	37	1	67411943	67411943	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:67411943A>G	uc001dde.2	+	4	438	c.304A>G	c.(304-306)ACA>GCA	p.T102A	MIER1_uc001dda.3_3'UTR|MIER1_uc010opf.1_Missense_Mutation_p.T66A|MIER1_uc009way.2_Missense_Mutation_p.T66A|MIER1_uc001ddc.2_Missense_Mutation_p.T102A|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Missense_Mutation_p.T66A|MIER1_uc001ddg.2_Missense_Mutation_p.T22A|MIER1_uc010opg.1_Missense_Mutation_p.T66A|MIER1_uc001ddj.1_Missense_Mutation_p.T49A|MIER1_uc001ddi.2_Missense_Mutation_p.T49A	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	73	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GGAAGGAGAAACAAACTTCAG	0.373												
LRRC7	57554	broad.mit.edu	37	1	70257797	70257797	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:70257797T>C	uc001dep.2	+	2	291	c.261T>C	c.(259-261)ACT>ACC	p.T87T	LRRC7_uc001deo.1_Silent_p.T125T|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	87	LRR 3.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TGCCAACCACTATTGCTAGTT	0.299												
CLCA4	22802	broad.mit.edu	37	1	87041015	87041015	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:87041015G>A	uc009wcs.2	+	11	1728	c.1684G>A	c.(1684-1686)GTG>ATG	p.V562M	CLCA4_uc009wct.2_Missense_Mutation_p.V325M|CLCA4_uc009wcu.2_Missense_Mutation_p.V382M	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	562						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAACTTTTAGGTGGGCACTTG	0.348												
GBP6	163351	broad.mit.edu	37	1	89846020	89846020	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:89846020T>C	uc001dnf.2	+	6	975	c.701T>C	c.(700-702)TTC>TCC	p.F234S	GBP6_uc010ost.1_Missense_Mutation_p.F104S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	234							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CGGAAGTGTTTCGTCTTTGAC	0.413												
ZNF644	84146	broad.mit.edu	37	1	91405341	91405341	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:91405341A>G	uc001dnw.2	-	3	1712	c.1570T>C	c.(1570-1572)TAC>CAC	p.Y524H	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.Y524H	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAGCAGTAGTACCTTTTATCT	0.428												
ABCA4	24	broad.mit.edu	37	1	94480230	94480230	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:94480230T>C	uc001dqh.2	-	38	5433	c.5329A>G	c.(5329-5331)ATG>GTG	p.M1777V	ABCA4_uc009wdp.1_Missense_Mutation_p.M45V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1777	Helical; (Potential).				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTACATCATGGGAATGACC	0.468												
NTNG1	22854	broad.mit.edu	37	1	108023366	108023366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:108023366C>A	uc001dvh.3	+	8	2242	c.1524C>A	c.(1522-1524)TGC>TGA	p.C508*	NTNG1_uc001dvf.3_Nonsense_Mutation_p.C449*|NTNG1_uc010out.1_Nonsense_Mutation_p.C474*|NTNG1_uc001dvc.3_Nonsense_Mutation_p.C407*|NTNG1_uc001dvi.2_Missense_Mutation_p.A76E|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Silent_p.R71R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	508					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGGCAGCTGCGGCTCCGACT	0.701												
CLCC1	23155	broad.mit.edu	37	1	109479918	109479918	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:109479918T>C	uc001dwe.1	-	10	1256	c.1164A>G	c.(1162-1164)AGA>AGG	p.R388R	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Silent_p.R388R|CLCC1_uc001dwg.1_Silent_p.R338R|CLCC1_uc009wes.1_Silent_p.R267R|CLCC1_uc009wet.1_Silent_p.R203R	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	388						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CACCATCAGGTCTATAATCAA	0.522												
SORT1	6272	broad.mit.edu	37	1	109888405	109888405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:109888405G>A	uc001dxm.1	-	8	980	c.931C>T	c.(931-933)CGT>TGT	p.R311C	SORT1_uc010ovi.1_Missense_Mutation_p.R174C|SORT1_uc009wfb.2_Missense_Mutation_p.R175C	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	311	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AAAAGGAAACGTCCCCCAAGA	0.428												
ATXN7L2	127002	broad.mit.edu	37	1	110032674	110032674	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:110032674A>G	uc001dxr.2	+	8	1175	c.1160A>G	c.(1159-1161)GAG>GGG	p.E387G	ATXN7L2_uc001dxs.2_Missense_Mutation_p.E14G|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	387										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAAGAGAGTGAGGAGGAGGGG	0.647												
GSTM4	2948	broad.mit.edu	37	1	110200420	110200420	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:110200420C>T	uc001dyf.2	+	5	600	c.286C>T	c.(286-288)CGT>TGT	p.R96C	GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Intron|GSTM4_uc001dyh.2_Missense_Mutation_p.R96C|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	96	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGAGAAGATTCGTGTGGACAT	0.562												
UBL4B	164153	broad.mit.edu	37	1	110655253	110655253	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:110655253C>T	uc001dzc.2	+	1	192	c.97C>T	c.(97-99)CGG>TGG	p.R33W		NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	33	Ubiquitin-like.					cytoplasm				ovary(1)	1		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGTGTCCAGGCGGCTGAAGGT	0.592												
SYT6	148281	broad.mit.edu	37	1	114641766	114641766	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:114641766C>T	uc001eev.2	-	5	1309	c.1059G>A	c.(1057-1059)CCG>CCA	p.P353P	SYT6_uc001eeu.2_5'UTR	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	438	Cytoplasmic (Potential).|C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTTTTCCGGGGGAATGT	0.483												
NOTCH2	4853	broad.mit.edu	37	1	120465332	120465332	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:120465332C>T	uc001eik.2	-	27	5185	c.4929G>A	c.(4927-4929)ACG>ACA	p.T1643T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1643	Negative regulatory region (NRR).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTGCATCCGTGTTCTTGA	0.542			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
PDE4DIP	9659	broad.mit.edu	37	1	144859831	144859831	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:144859831G>T	uc001elw.3	-	38	6544	c.6253C>A	c.(6253-6255)CTC>ATC	p.L2085I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1979I|PDE4DIP_uc001elv.3_Missense_Mutation_p.L1092I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2085					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGGGCTGAGGCTGGCTTTG	0.572			T	PDGFRB	MPD							
PDE4DIP	9659	broad.mit.edu	37	1	144917533	144917533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:144917533C>T	uc001elw.3	-	12	1862	c.1571G>A	c.(1570-1572)CGC>CAC	p.R524H	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R590H|PDE4DIP_uc001emc.1_Missense_Mutation_p.R524H|PDE4DIP_uc001emd.1_Missense_Mutation_p.R524H|PDE4DIP_uc001emb.1_Missense_Mutation_p.R687H|PDE4DIP_uc001eme.1_Missense_Mutation_p.R53H|PDE4DIP_uc001emf.1_Missense_Mutation_p.R311H	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	524	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGACATCGCGCAGTCTCTC	0.458			T	PDGFRB	MPD							
ANKRD35	148741	broad.mit.edu	37	1	145562653	145562653	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:145562653G>A	uc001eob.1	+	10	2449	c.2341G>A	c.(2341-2343)GCT>ACT	p.A781T	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A624T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	781	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAAGTGGCCGCTCTGGAGCA	0.627												
LYSMD1	388695	broad.mit.edu	37	1	151134223	151134223	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:151134223T>C	uc001ewy.2	-	2	1170	c.534A>G	c.(532-534)AAA>AAG	p.K178K	LYSMD1_uc010pcr.1_Silent_p.K130K	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain	178					cell wall macromolecule catabolic process						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATTTTCCCCTTTTTTCAGCT	0.473												
HRNR	388697	broad.mit.edu	37	1	152193102	152193102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:152193102G>A	uc001ezt.1	-	3	1079	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	335	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATGGCCACGGCTGTAAGAG	0.582												
LCE3A	353142	broad.mit.edu	37	1	152595541	152595541	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:152595541C>T	uc010pdt.1	-	1	39	c.39G>A	c.(37-39)CCG>CCA	p.P13P		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	13					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCACTTGGGCGGAGGCTGGC	0.607												
TDRD10	126668	broad.mit.edu	37	1	154516454	154516454	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154516454G>A	uc009wow.2	+	9	1357	c.519G>A	c.(517-519)GTG>GTA	p.V173V	TDRD10_uc001ffd.2_Silent_p.V173V|TDRD10_uc001ffe.2_Silent_p.V94V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	173							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTTCCTGGTGCTGCTCCTGA	0.612												
PBXIP1	57326	broad.mit.edu	37	1	154920759	154920759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154920759G>A	uc001ffr.2	-	6	552	c.493C>T	c.(493-495)CGG>TGG	p.R165W	PBXIP1_uc001ffs.2_Missense_Mutation_p.R136W|PBXIP1_uc010pep.1_Missense_Mutation_p.R10W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	165	Poly-Arg.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.R165W(1)		large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGGCCTCCCGGCCCCGCCGT	0.682												
SHC1	6464	broad.mit.edu	37	1	154938496	154938496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154938496C>T	uc001ffv.2	-	10	1531	c.1310G>A	c.(1309-1311)CGG>CAG	p.R437Q	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R208Q|SHC1_uc001ffw.2_Missense_Mutation_p.R438Q|SHC1_uc001ffx.2_Missense_Mutation_p.R328Q|SHC1_uc001ffy.2_Missense_Mutation_p.R327Q	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	437	Pro-rich.|CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACTGCTTGCCGGGCCTTGTC	0.577												
ZBTB7B	51043	broad.mit.edu	37	1	154987334	154987334	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:154987334C>T	uc001fgk.3	+	3	356	c.198C>T	c.(196-198)GGC>GGT	p.G66G	ZBTB7B_uc009wpa.2_Silent_p.G66G|ZBTB7B_uc001fgj.3_Silent_p.G100G|ZBTB7B_uc010peq.1_Silent_p.G100G|ZBTB7B_uc001fgl.3_Silent_p.G66G	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	66	BTB.				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)			TCACTGAGGGCGGTGGCGGAG	0.632												
DCST1	149095	broad.mit.edu	37	1	155019720	155019720	+	Missense_Mutation	SNP	G	G	A	rs138386761		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:155019720G>A	uc001fgn.1	+	14	1640	c.1544G>A	c.(1543-1545)CGG>CAG	p.R515Q	DCST1_uc010pes.1_Missense_Mutation_p.R490Q|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	515	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	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)			ATGCTAGCCCGGCTTCTTCGA	0.532												
ADAM15	8751	broad.mit.edu	37	1	155032817	155032817	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:155032817C>T	uc001fgr.1	+	18	2306	c.2205C>T	c.(2203-2205)TAC>TAT	p.Y735Y	ADAM15_uc001fgq.1_Silent_p.Y420Y|ADAM15_uc010peu.1_Silent_p.Y752Y|ADAM15_uc001fgt.1_Silent_p.Y735Y|ADAM15_uc010pev.1_Silent_p.Y745Y|ADAM15_uc001fgs.1_Silent_p.Y735Y|ADAM15_uc001fgu.1_Silent_p.Y735Y|ADAM15_uc001fgw.1_Silent_p.Y735Y|ADAM15_uc001fgv.1_Silent_p.Y735Y|ADAM15_uc001fgx.1_Silent_p.Y735Y|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Silent_p.Y26Y	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	735	Cytoplasmic (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)			CCTGCCAGTACAGGTATGAGC	0.607												
MEX3A	92312	broad.mit.edu	37	1	156046883	156046883	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:156046883A>C	uc001fnd.3	-	2	1045	c.1045T>G	c.(1045-1047)TCT>GCT	p.S349A		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	349						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCAAAGCCAGAGTCCACTCCG	0.672												
HAPLN2	60484	broad.mit.edu	37	1	156594190	156594190	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:156594190T>C	uc001fpn.1	+	5	894	c.487T>C	c.(487-489)TAC>CAC	p.Y163H		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	163	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGTTCAATTACTACGAGGC	0.672												
PRCC	5546	broad.mit.edu	37	1	156737593	156737593	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:156737593T>C	uc001fqa.2	+	1	320	c.30T>C	c.(28-30)GAT>GAC	p.D10D	PRCC_uc001fqb.2_Silent_p.D10D|HDGF_uc009wsf.2_5'Flank	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	10	Mediates interaction with MAD2L2.				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)					CCAGCAGCGATGAGAGCGAGC	0.672			T	TFE3	papillary renal 							
CD1A	909	broad.mit.edu	37	1	158225130	158225130	+	Missense_Mutation	SNP	G	G	T	rs11800924	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:158225130G>T	uc001frt.2	+	2	848	c.315G>T	c.(313-315)TTG>TTT	p.L105F		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	105	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCCATGAATTGCAGTTTGAAT	0.453												
PEA15	8682	broad.mit.edu	37	1	160181415	160181415	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:160181415C>T	uc001fvk.2	+	2	271	c.81C>T	c.(79-81)TGC>TGT	p.C27C	uc001fvj.1_5'Flank|PEA15_uc001fvl.2_Silent_p.C48C|PEA15_uc001fvm.2_Silent_p.C27C	NM_003768	NP_003759	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	27	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding				0	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTCGGCCTGCAAGGAAGACA	0.557												
C1orf226	400793	broad.mit.edu	37	1	162353432	162353432	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:162353432G>A	uc001gby.2	+	2	950	c.778G>A	c.(778-780)GAC>AAC	p.D260N	C1orf226_uc010pkt.1_Missense_Mutation_p.D303N	NM_001085375	NP_001078844	A1L170	CA226_HUMAN	hypothetical protein LOC400793 isoform 2	260										ovary(1)	1						CTCCAGCCTCGACAATGAGGG	0.587												
LMX1A	4009	broad.mit.edu	37	1	165218652	165218652	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:165218652T>C	uc001gcy.1	-	3	710	c.489A>G	c.(487-489)TCA>TCG	p.S163S	LMX1A_uc001gcz.1_Silent_p.S163S	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CACCTGAGTCTGAGGCTGCTG	0.607												
POU2F1	5451	broad.mit.edu	37	1	167365537	167365537	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:167365537C>T	uc001gec.2	+	11	1095	c.933C>T	c.(931-933)CTC>CTT	p.L311L	POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Silent_p.L309L|POU2F1_uc001gee.2_Silent_p.L311L|POU2F1_uc010plh.1_Silent_p.L248L|POU2F1_uc001gef.2_Silent_p.L323L|POU2F1_uc001geg.2_Silent_p.L209L|POU2F1_uc009wvg.1_5'Flank	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	311	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						ATGTTGGGCTCGCTATGGGGA	0.463												
FAM5B	57795	broad.mit.edu	37	1	177250045	177250045	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:177250045A>C	uc001glf.2	+	8	2045	c.1733A>C	c.(1732-1734)AAG>ACG	p.K578T	FAM5B_uc001glg.2_Missense_Mutation_p.K473T	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	578						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGTCTCACCAAGAACAGCACC	0.567												
CEP350	9857	broad.mit.edu	37	1	179993662	179993662	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:179993662G>A	uc001gnt.2	+	14	3878	c.3495G>A	c.(3493-3495)TCG>TCA	p.S1165S	CEP350_uc009wxl.2_Silent_p.S1164S|CEP350_uc001gnu.2_Silent_p.S998S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1165	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4						CTGCTGCATCGTCTCGTTCAT	0.423												
CFHR2	3080	broad.mit.edu	37	1	196918663	196918663	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:196918663C>A	uc001gtq.1	+	2	214	c.137C>A	c.(136-138)CCT>CAT	p.P46H	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	46	Sushi 1.					extracellular region				skin(2)|ovary(1)	3						TCCCAAGTTCCTACAGGGGAA	0.363												
F13B	2165	broad.mit.edu	37	1	197030128	197030128	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:197030128G>T	uc001gtt.1	-	4	573	c.529C>A	c.(529-531)CAA>AAA	p.Q177K		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	177	Sushi 3.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CATTCGTATTGTACTTTGTCC	0.358												
KIF21B	23046	broad.mit.edu	37	1	200959409	200959409	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:200959409G>A	uc001gvs.1	-	20	3204	c.2887C>T	c.(2887-2889)CGG>TGG	p.R963W	KIF21B_uc001gvr.1_Missense_Mutation_p.R963W|KIF21B_uc009wzl.1_Missense_Mutation_p.R963W|KIF21B_uc010ppn.1_Missense_Mutation_p.R963W	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	963	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GCCTGCAGCCGCTCCCGCTTC	0.612												
LAD1	3898	broad.mit.edu	37	1	201356046	201356046	+	Missense_Mutation	SNP	C	C	T	rs112179009		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:201356046C>T	uc001gwm.2	-	3	678	c.443G>A	c.(442-444)CGG>CAG	p.R148Q	LAD1_uc009wzu.1_Missense_Mutation_p.R170Q	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	148						basement membrane	structural molecule activity				0						CCGCTGTTCCCGACTCAGTCT	0.612												
NFASC	23114	broad.mit.edu	37	1	204943372	204943372	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:204943372C>T	uc001hbj.2	+	13	1673	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	NFASC_uc001hbh.2_Missense_Mutation_p.R449W|NFASC_uc010pqz.1_Missense_Mutation_p.R443W|NFASC_uc010pra.1_Missense_Mutation_p.R460W|NFASC_uc001hbi.2_Missense_Mutation_p.R460W|NFASC_uc009xbg.1_Missense_Mutation_p.R533W|NFASC_uc010prb.1_Missense_Mutation_p.R460W|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.R270W	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	449	Extracellular (Potential).|Ig-like C2-type 5.				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)			CAACCGGACGCGGCTGGACTG	0.562												
PIGR	5284	broad.mit.edu	37	1	207107940	207107940	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:207107940G>A	uc001hez.2	-	6	1714	c.1530C>T	c.(1528-1530)GAC>GAT	p.D510D	PIGR_uc009xbz.2_Silent_p.D510D	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	510	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TGGGGCCTTCGTCTTGGCTGG	0.577												
CR1	1378	broad.mit.edu	37	1	207679348	207679348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:207679348G>A	uc001hfy.2	+	2	361	c.221G>A	c.(220-222)CGC>CAC	p.R74H	CR1_uc009xcl.1_Missense_Mutation_p.R74H|CR1_uc001hfx.2_Missense_Mutation_p.R74H|CR1_uc010psg.1_Missense_Mutation_p.R74H|CR1_uc009xcj.1_Missense_Mutation_p.R74H|CR1_uc009xck.1_Missense_Mutation_p.R74H	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	74	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TATGAATGCCGCCCTGGTTAT	0.478												
RPS6KC1	26750	broad.mit.edu	37	1	213303055	213303055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:213303055C>T	uc010ptr.1	+	6	817	c.658C>T	c.(658-660)CGG>TGG	p.R220W	RPS6KC1_uc001hkd.2_Missense_Mutation_p.R208W|RPS6KC1_uc010pts.1_Missense_Mutation_p.R39W|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R39W|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R39W|RPS6KC1_uc010ptv.1_Translation_Start_Site|RPS6KC1_uc001hke.2_Missense_Mutation_p.R39W	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	220					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGAAGAAGAACGGGAAAGTCG	0.413												
USH2A	7399	broad.mit.edu	37	1	216062163	216062163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:216062163G>A	uc001hku.1	-	41	8215	c.7828C>T	c.(7828-7830)CTT>TTT	p.L2610F		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2610	Fibronectin type-III 12.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGGTGAAAGGGAACATCCT	0.473										HNSCC(13;0.011)		
TP53BP2	7159	broad.mit.edu	37	1	224009062	224009062	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:224009062A>G	uc010pvb.1	-	2	327	c.35T>C	c.(34-36)CTT>CCT	p.L12P	TP53BP2_uc001hod.2_5'UTR	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	6					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATACACGGTAAGAAACATCTA	0.408												
CDC42BPA	8476	broad.mit.edu	37	1	227348245	227348245	+	Missense_Mutation	SNP	G	G	A	rs34614709	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:227348245G>A	uc001hqr.2	-	6	1635	c.692C>T	c.(691-693)ACG>ATG	p.T231M	CDC42BPA_uc001hqs.2_Missense_Mutation_p.T231M|CDC42BPA_uc009xes.2_Missense_Mutation_p.T231M|CDC42BPA_uc010pvs.1_Missense_Mutation_p.T231M	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	231	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TTTATTTACCGTTCCATCTTC	0.318												
KIAA1383	54627	broad.mit.edu	37	1	232942219	232942219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:232942219C>T	uc001hvh.2	+	1	1582	c.1450C>T	c.(1450-1452)CGT>TGT	p.R484C		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	342										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TGAAAAAAAGCGTGTAAATCC	0.453												
PCNXL2	80003	broad.mit.edu	37	1	233388424	233388424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:233388424C>T	uc001hvl.2	-	6	2180	c.1945G>A	c.(1945-1947)GGC>AGC	p.G649S	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_5'UTR	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	649						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CATGCGGGGCCGGTGCTAGTA	0.443												
RYR2	6262	broad.mit.edu	37	1	237608789	237608789	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:237608789G>A	uc001hyl.1	+	14	1379	c.1259G>A	c.(1258-1260)CGG>CAG	p.R420Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	420	Cytoplasmic (By similarity).		R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGAGTTATCCGGAGCACAGTC	0.388												
KIF26B	55083	broad.mit.edu	37	1	245861420	245861420	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:245861420G>T	uc001ibf.1	+	13	6277	c.5837G>T	c.(5836-5838)CGG>CTG	p.R1946L		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1946					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)			TCTCAGAGACGGAGGCTTATC	0.453												
C1orf150	148823	broad.mit.edu	37	1	247719754	247719754	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:247719754T>C	uc001idf.2	+	2	120	c.75T>C	c.(73-75)GAT>GAC	p.D25D	C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	25											0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GAAACCCAGATGAGGAAAGAA	0.358												
OR2L13	284521	broad.mit.edu	37	1	248262815	248262815	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:248262815C>T	uc001ids.2	+	3	475	c.138C>T	c.(136-138)CAC>CAT	p.H46H		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	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;0.0132)			CCATGATTCACCTCATCCACG	0.502												
OR2T4	127074	broad.mit.edu	37	1	248525518	248525518	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:248525518A>C	uc001ieh.1	+	1	636	c.636A>C	c.(634-636)GAA>GAC	p.E212D		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	212	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTGTGAAGTTCCTGCTG	0.502												
RBM17	84991	broad.mit.edu	37	10	6146944	6146944	+	Silent	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:6146944T>G	uc001ijb.2	+	4	517	c.291T>G	c.(289-291)GCT>GCG	p.A97A	RBM17_uc010qav.1_Silent_p.A97A	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	97					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						TTCCCTTAGCTGACGAATATG	0.438												
CUBN	8029	broad.mit.edu	37	10	17126369	17126369	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:17126369G>A	uc001ioo.2	-	17	2254	c.2202C>T	c.(2200-2202)TGC>TGT	p.C734C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	734	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCATATAGACGCATTGCCTGG	0.502												
PDSS1	23590	broad.mit.edu	37	10	27024408	27024408	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:27024408T>C	uc001isv.2	+	10	972	c.926T>C	c.(925-927)GTA>GCA	p.V309A	PDSS1_uc001isw.2_Intron|PDSS1_uc010qdf.1_Missense_Mutation_p.V47A	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						ATAGATGATGTATTGGACTTC	0.483												
ZEB1	6935	broad.mit.edu	37	10	31608218	31608218	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:31608218A>G	uc001ivs.3	+	1	118	c.55A>G	c.(55-57)AAC>GAC	p.N19D	ZEB1_uc001ivr.3_Intron|ZEB1_uc010qee.1_Intron|ZEB1_uc010qef.1_Intron|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.N19D|ZEB1_uc010qeg.1_Missense_Mutation_p.N19D|ZEB1_uc009xlk.1_Translation_Start_Site|ZEB1_uc001ivt.3_Translation_Start_Site|ZEB1_uc001ivu.3_Missense_Mutation_p.N19D|ZEB1_uc001ivv.3_Missense_Mutation_p.N19D|ZEB1_uc010qeh.1_Missense_Mutation_p.N19D|ZEB1_uc009xll.2_5'Flank|ZEB1_uc009xlm.1_5'Flank|ZEB1_uc009xln.1_5'Flank|ZEB1_uc009xlo.1_5'Flank|ZEB1_uc009xlp.2_5'Flank|LOC220930_uc010qed.1_5'Flank	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	19					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				GCGGCGCAATAACGGTGAGTg	0.279												
KIF5B	3799	broad.mit.edu	37	10	32324901	32324901	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:32324901C>A	uc001iwe.3	-	9	1203	c.733G>T	c.(733-735)GGT>TGT	p.G245C		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	245	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				AGCACAGCACCTTCAGCTCCA	0.323												
ITGB1	3688	broad.mit.edu	37	10	33214866	33214866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:33214866C>T	uc001iws.3	-	6	855	c.719G>A	c.(718-720)CGC>CAC	p.R240H	ITGB1_uc001iwp.3_Missense_Mutation_p.R240H|ITGB1_uc001iwq.3_Missense_Mutation_p.R240H|ITGB1_uc001iwr.3_Missense_Mutation_p.R240H|ITGB1_uc001iwt.3_Missense_Mutation_p.R240H|ITGB1_uc001iwu.1_Missense_Mutation_p.R240H	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	240	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCCAGATATGCGCTGTTTTCC	0.408												
CCNY	219771	broad.mit.edu	37	10	35855055	35855055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:35855055C>T	uc001iyw.3	+	9	1031	c.851C>T	c.(850-852)GCG>GTG	p.A284V	CCNY_uc001iyu.3_Missense_Mutation_p.A230V|CCNY_uc001iyv.3_Missense_Mutation_p.A230V|CCNY_uc001iyx.3_Missense_Mutation_p.A230V|CCNY_uc009xmb.2_Missense_Mutation_p.A259V|CCNY_uc010qet.1_Missense_Mutation_p.A151V	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	284					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding				0						CTGGCAGAAGCGAACAACCTG	0.473												
ZNF33B	7582	broad.mit.edu	37	10	43089480	43089480	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:43089480A>G	uc001jaf.1	-	5	1033	c.918T>C	c.(916-918)AGT>AGC	p.S306S	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.S194S|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	306						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AATTATTCCCACTTTCACCAC	0.393												
HNRNPF	3185	broad.mit.edu	37	10	43882176	43882176	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:43882176T>G	uc009xmh.1	-	3	1644	c.1157A>C	c.(1156-1158)CAG>CCG	p.Q386P	HNRNPF_uc001jar.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jas.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jat.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jav.2_Missense_Mutation_p.Q386P|HNRNPF_uc001jau.2_Missense_Mutation_p.Q386P|uc010qfa.1_5'UTR	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	386					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						GTAAGTGGCCTGGGCAGCAGA	0.547												
GPRIN2	9721	broad.mit.edu	37	10	47000005	47000005	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:47000005G>A	uc001jec.2	+	3	1260	c.1125G>A	c.(1123-1125)GTG>GTA	p.V375V	GPRIN2_uc010qfq.1_Silent_p.V138V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	375											0						TGGAGGAGGTGCCGTCCCCTG	0.657												
PPYR1	5540	broad.mit.edu	37	10	47087826	47087826	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:47087826A>G	uc001jee.2	+	3	1462	c.1043A>G	c.(1042-1044)GAG>GGG	p.E348G	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.E348G	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	348	Cytoplasmic (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CCCCTGGAGGAGTCGGAGCAT	0.547												
RBP3	5949	broad.mit.edu	37	10	48382208	48382208	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:48382208C>T	uc001jez.2	-	4	3555	c.3441G>A	c.(3439-3441)ACG>ACA	p.T1147T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1147	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)	CGGTGCCGGCCGTCACACTGC	0.607												
SLC18A3	6572	broad.mit.edu	37	10	50819083	50819083	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:50819083G>A	uc001jhw.2	+	1	737	c.297G>A	c.(295-297)GCG>GCA	p.A99A	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	99	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACACCTCGGCGTCCCCGACAG	0.706												
BICC1	80114	broad.mit.edu	37	10	60573605	60573605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:60573605C>T	uc001jki.1	+	18	2392	c.2392C>T	c.(2392-2394)CTT>TTT	p.L798F	BICC1_uc001jkj.1_Missense_Mutation_p.L439F	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	798					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						ATCCATGTCCCTTTCACGGTC	0.458												
CTNNA3	29119	broad.mit.edu	37	10	68280472	68280472	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:68280472G>A	uc009xpn.1	-	11	1557	c.1434C>T	c.(1432-1434)ACC>ACT	p.T478T	CTNNA3_uc001jmw.2_Silent_p.T478T|CTNNA3_uc001jmx.3_Silent_p.T478T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	478					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						ACATTTCCATGGTGTTTTTGA	0.338												
CCAR1	55749	broad.mit.edu	37	10	70509303	70509303	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:70509303C>T	uc001joo.2	+	10	1098	c.979C>T	c.(979-981)CGT>TGT	p.R327C	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.R132C|CCAR1_uc009xpx.1_Missense_Mutation_p.R301C|CCAR1_uc001jon.1_Missense_Mutation_p.R273C|CCAR1_uc010qiz.1_Missense_Mutation_p.R312C|CCAR1_uc010qja.1_Missense_Mutation_p.R312C|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	327	Arg-rich.				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			ovary(6)|large_intestine(1)	7						GAGAGAAAGACGTAGATCGAG	0.413												
SRGN	5552	broad.mit.edu	37	10	70863692	70863692	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:70863692T>C	uc001joz.2	+	3	379	c.293T>C	c.(292-294)TTC>TCC	p.F98S		NM_002727	NP_002718	P10124	SRGN_HUMAN	serglycin precursor	98	3.|9 X 2 AA tandem repeats of [SF]-G.				apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen					0						GGATCAGGCTTCGGCTCCGGC	0.468												
CHST3	9469	broad.mit.edu	37	10	73767393	73767393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:73767393G>A	uc001jsn.2	+	3	1044	c.604G>A	c.(604-606)GTG>ATG	p.V202M		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	202	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						CGACCTGTACGTGCTGGAGCA	0.682												
SPOCK2	9806	broad.mit.edu	37	10	73826724	73826724	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:73826724G>T	uc001jso.1	-	8	1309	c.864C>A	c.(862-864)TCC>TCA	p.S288S	SPOCK2_uc001jsp.2_Silent_p.S288S	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	288					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						AGGTGTCACAGGAGTTGAAGA	0.612												
DNAJB12	54788	broad.mit.edu	37	10	74100601	74100601	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:74100601G>A	uc010qjv.1	-	5	921	c.771C>T	c.(769-771)GGC>GGT	p.G257G	DNAJB12_uc001jsz.2_Silent_p.G257G|DNAJB12_uc001jta.2_Silent_p.G257G	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	223					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						AGCGCATGCGGCCGTTGCTGT	0.622												
CAMK2G	818	broad.mit.edu	37	10	75606993	75606993	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:75606993G>T	uc001jvv.1	-	10	909	c.785C>A	c.(784-786)CCG>CAG	p.P262Q	CAMK2G_uc001jvm.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvo.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvq.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvr.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvp.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvs.1_Missense_Mutation_p.P270Q|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.P248Q|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	270	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					ACAGACCCACGGGTGCTTGAG	0.557												
SH2D4B	387694	broad.mit.edu	37	10	82331221	82331221	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:82331221C>T	uc001kck.1	+	3	812	c.382C>T	c.(382-384)CGG>TGG	p.R128W	SH2D4B_uc001kcl.1_Missense_Mutation_p.R79W	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	127	Glu-rich.										0			Colorectal(32;0.229)			CAAGAAGTTCCGGGATGCTCT	0.512												
ANKRD22	118932	broad.mit.edu	37	10	90591666	90591666	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:90591666C>T	uc001kfj.3	-	2	507	c.139G>A	c.(139-141)GCT>ACT	p.A47T		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	47	ANK 1.										0		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CGCCTGCAAGCACAGATCAGG	0.468												
IFIT5	24138	broad.mit.edu	37	10	91178104	91178104	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:91178104G>A	uc010qnh.1	+	2	1379	c.1148G>A	c.(1147-1149)GGC>GAC	p.G383D	IFIT5_uc010qng.1_Missense_Mutation_p.G335D	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	383	TPR 7.						binding				0						TACCACTATGGCCGCTTTCAG	0.438												
MYOF	26509	broad.mit.edu	37	10	95119596	95119596	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:95119596G>A	uc001kin.2	-	29	3237	c.3114C>T	c.(3112-3114)ACC>ACT	p.T1038T	MYOF_uc001kio.2_Silent_p.T1025T|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1038	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TTACCCTTGCGGTGCTTGAAG	0.498												
C10orf12	26148	broad.mit.edu	37	10	98744071	98744071	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:98744071G>A	uc001kmv.2	+	1	3031	c.2924G>A	c.(2923-2925)AGC>AAC	p.S975N		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	975										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCTGAAGACAGCATAGAGGAA	0.478												
SLIT1	6585	broad.mit.edu	37	10	98766411	98766411	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:98766411G>A	uc001kmw.2	-	32	3660	c.3408C>T	c.(3406-3408)TGC>TGT	p.C1136C		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1136	EGF-like 6.				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)		CCCCATTCTGGCACTCAGTCC	0.597												
SEMA4G	57715	broad.mit.edu	37	10	102732747	102732747	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:102732747G>A	uc010qpt.1	+	2	521	c.78G>A	c.(76-78)CCG>CCA	p.P26P	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Silent_p.P26P|SEMA4G_uc001krx.2_Silent_p.P26P|MIR608_hsa-mir-608|MI0003621_5'Flank	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	26	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCGGAGACCGTCTAGAGAAC	0.607												
SORCS3	22986	broad.mit.edu	37	10	106401696	106401696	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:106401696C>T	uc001kyi.1	+	1	838	c.611C>T	c.(610-612)TCG>TTG	p.S204L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	204	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGCACTGGTCGGGACACAAC	0.697												
DUSP5	1847	broad.mit.edu	37	10	112257938	112257938	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:112257938C>T	uc001kzd.2	+	1	314	c.59C>T	c.(58-60)GCG>GTG	p.A20V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	20	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AAGGAGGCGGCGGCGCGCTGC	0.522												
ADRB1	153	broad.mit.edu	37	10	115804478	115804478	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:115804478T>C	uc001lba.2	+	1	673	c.587T>C	c.(586-588)ATG>ACG	p.M196T		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	196	Helical; Name=4; (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CCCATCCTCATGCACTGGTGG	0.602												
PNLIPRP3	119548	broad.mit.edu	37	10	118228695	118228695	+	Splice_Site	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:118228695A>G	uc001lcl.3	+	9	1029	c.928_splice	c.e9-2	p.G310_splice		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor						lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TTCTGTCATCAGGGAAATTGC	0.303												
KCNK18	338567	broad.mit.edu	37	10	118969223	118969223	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:118969223C>A	uc010qsr.1	+	3	568	c.568C>A	c.(568-570)CCG>ACG	p.P190T		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	190	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		CAAGAAAAAACCGGACCCCAA	0.507												
CHST15	51363	broad.mit.edu	37	10	125769827	125769827	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:125769827C>A	uc001lhl.2	-	7	2037	c.1524G>T	c.(1522-1524)TTG>TTT	p.L508F	CHST15_uc001lhm.2_Missense_Mutation_p.L508F|CHST15_uc001lhn.2_Missense_Mutation_p.L508F	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	508	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						TCTTGGTCATCAAAGCCTCCT	0.547												
IFITM5	387733	broad.mit.edu	37	11	299306	299306	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:299306T>C	uc001low.1	-	1	221	c.185A>G	c.(184-186)AAG>AGG	p.K62R		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	62	Cytoplasmic (Potential).				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane					0		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGCCCACCTTGATGGAGTA	0.662												
ANO9	338440	broad.mit.edu	37	11	418410	418410	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:418410G>T	uc001lpi.2	-	23	2395	c.2310C>A	c.(2308-2310)ACC>ACA	p.T770T	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Silent_p.T463T|ANO9_uc010qvv.1_Silent_p.T626T	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	770	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGGATGCTGGGGTGGGATGGG	0.647												
RNH1	6050	broad.mit.edu	37	11	498110	498110	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:498110A>G	uc001lpk.1	-	7	2396	c.988T>C	c.(988-990)TGC>CGC	p.C330R	RNH1_uc001lpl.1_Missense_Mutation_p.C330R|RNH1_uc001lpm.1_Missense_Mutation_p.C330R|RNH1_uc001lpn.1_Missense_Mutation_p.C330R|RNH1_uc001lpo.1_Missense_Mutation_p.C330R|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.C330R|RNH1_uc001lpt.1_Missense_Mutation_p.C87R|RNH1_uc001lpq.1_Missense_Mutation_p.C330R|RNH1_uc001lpr.1_Missense_Mutation_p.C330R|RNH1_uc001lps.1_Missense_Mutation_p.C330R	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	330	LRR 11.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTGGGAGCAGCAGGCGGCT	0.637												
PDDC1	347862	broad.mit.edu	37	11	774114	774114	+	Splice_Site	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:774114C>A	uc001lrc.2	-	3	167	c.142_splice	c.e3-1	p.G48_splice	PDDC1_uc010qwm.1_Splice_Site|PDDC1_uc001lrd.2_Splice_Site_p.G48_splice|PDDC1_uc001lrf.1_Splice_Site_p.G48_splice|PDDC1_uc001lrg.1_Splice_Site|PDDC1_uc009ycg.2_Splice_Site|PDDC1_uc010qwn.1_Splice_Site|PDDC1_uc010qwo.1_Splice_Site|PDDC1_uc010qwp.1_Splice_Site_p.G48_splice|PDDC1_uc010qwq.1_Splice_Site|PDDC1_uc010qwr.1_Splice_Site_p.G48_splice|PDDC1_uc010qws.1_Splice_Site	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1							extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCTTTCCCCTGGAGAAGCA	0.602												
MUC6	4588	broad.mit.edu	37	11	1015989	1015989	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:1015989G>A	uc001lsw.2	-	31	6863	c.6812C>T	c.(6811-6813)TCG>TTG	p.S2271L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2271	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGACCGCGAGGTGGTGGA	0.627												
MRPL23	6150	broad.mit.edu	37	11	1972219	1972219	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:1972219C>T	uc001lux.2	+	2	199	c.108C>T	c.(106-108)CCC>CCT	p.P36P		NM_021134	NP_066957	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	36					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|ovary(1)	3		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGCCCAGCCCGAGGACACCG	0.657												
UBQLN3	50613	broad.mit.edu	37	11	5529402	5529402	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:5529402A>G	uc001may.1	-	2	1473	c.1387T>C	c.(1387-1389)TCC>CCC	p.S463P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	463										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGTGGGGGAAAAAGATAAG	0.547												
CNGA4	1262	broad.mit.edu	37	11	6260939	6260939	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:6260939G>A	uc001mco.2	+	3	297	c.190G>A	c.(190-192)GGT>AGT	p.G64S	CNGA4_uc010raa.1_Missense_Mutation_p.G24S|CNGA4_uc001mcn.2_Missense_Mutation_p.G24S	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	64	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGCAGCACGGTTATCTGGT	0.572												
OLFML1	283298	broad.mit.edu	37	11	7530851	7530851	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:7530851A>G	uc001mfi.2	+	3	993	c.641A>G	c.(640-642)CAG>CGG	p.Q214R	OLFML1_uc010raz.1_Missense_Mutation_p.Q78R|OLFML1_uc010rba.1_Missense_Mutation_p.Q214R	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	214	Olfactomedin-like.					extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTTTCCTGGCAGGGAACAGGC	0.423												
NLRP10	338322	broad.mit.edu	37	11	7982583	7982583	+	Silent	SNP	G	G	A	rs138681119	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:7982583G>A	uc001mfv.1	-	2	593	c.576C>T	c.(574-576)ACC>ACT	p.T192T		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	192	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAGAGTACCGGTGGCCCAGT	0.532												
IPO7	10527	broad.mit.edu	37	11	9459747	9459747	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:9459747C>T	uc001mho.2	+	22	2752	c.2610C>T	c.(2608-2610)AAC>AAT	p.N870N		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	870					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTATTTAACGGATTGAAAA	0.338												
ARNTL	406	broad.mit.edu	37	11	13402723	13402723	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:13402723G>A	uc001mkr.2	+	18	1947	c.1539G>A	c.(1537-1539)TCG>TCA	p.S513S	ARNTL_uc001mko.2_Silent_p.S469S|ARNTL_uc001mkp.2_Silent_p.S512S|ARNTL_uc001mkq.2_Silent_p.S512S|ARNTL_uc001mks.2_Silent_p.S470S|ARNTL_uc001mkt.2_Silent_p.S513S|ARNTL_uc001mku.2_RNA|ARNTL_uc001mkw.2_Silent_p.S470S|ARNTL_uc001mkx.2_Silent_p.S511S|ARNTL_uc001mky.2_Silent_p.S51S	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	513				SP -> LR (in Ref. 2; AAC51213).	circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		GAGGGTCATCGCCTTCTAGCT	0.478												
PRMT3	10196	broad.mit.edu	37	11	20515731	20515731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:20515731C>T	uc001mqb.2	+	15	1634	c.1417C>T	c.(1417-1419)CCT>TCT	p.P473S	PRMT3_uc001mqc.2_Missense_Mutation_p.P396S|PRMT3_uc010rdn.1_Missense_Mutation_p.P411S	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	473							zinc ion binding				0						CTCTACGGGCCCTCAGAGCAC	0.373												
BDNF	627	broad.mit.edu	37	11	27680043	27680043	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:27680043T>C	uc010rdu.1	-	2	920	c.69A>G	c.(67-69)GAA>GAG	p.E23E	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Silent_p.E23E|BDNF_uc001mrt.2_Silent_p.E38E|BDNF_uc010rdw.1_Silent_p.E23E|BDNF_uc009yjd.2_Silent_p.E23E|BDNF_uc001mru.2_Silent_p.E23E|BDNF_uc010rdx.1_Silent_p.E23E|BDNF_uc010rdy.1_Silent_p.E23E|BDNF_uc009yjg.2_Silent_p.E23E|BDNF_uc009yje.2_Silent_p.E105E|BDNF_uc009yjf.2_Silent_p.E52E|BDNF_uc001mrv.2_Silent_p.E23E|BDNF_uc001mrw.3_Silent_p.E23E|BDNF_uc001mrx.2_Silent_p.E23E|BDNF_uc001mry.3_Silent_p.E23E|BDNF_uc001mrz.3_Silent_p.E23E|BDNF_uc001msa.2_Silent_p.E31E	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	23						extracellular region	growth factor activity				0						GGATGTTTGCTTCTTTCATGG	0.522												
PAX6	5080	broad.mit.edu	37	11	31823109	31823109	+	Silent	SNP	G	G	A	rs121907928		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:31823109G>A	uc001mtd.3	-	5	1247	c.357C>T	c.(355-357)AGC>AGT	p.S119S	PAX6_uc001mte.3_Silent_p.S119S|PAX6_uc001mtg.3_Silent_p.S133S|PAX6_uc001mtf.3_Silent_p.S119S|PAX6_uc001mth.3_Silent_p.S119S|PAX6_uc009yjr.2_Silent_p.S119S	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	119	Paired.		S -> R (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					ATGAACTTACGCTTGGTATGT	0.512									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
OR4C15	81309	broad.mit.edu	37	11	55322544	55322544	+	Silent	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:55322544C>A	uc010rig.1	+	1	762	c.762C>A	c.(760-762)ATC>ATA	p.I254I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGGTGGTCATCAACAGTGGGT	0.468										HNSCC(20;0.049)		
OR5F1	338674	broad.mit.edu	37	11	55761467	55761467	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:55761467A>C	uc010riv.1	-	1	635	c.635T>G	c.(634-636)CTT>CGT	p.L212R		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GAGGATGACAAGCAGAGTCCC	0.483												
OR5M3	219482	broad.mit.edu	37	11	56237279	56237279	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:56237279C>A	uc010rjk.1	-	1	695	c.695G>T	c.(694-696)AGG>ATG	p.R232M		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GGCCTTCTGCCTTCCTTCTGC	0.443												
TNKS1BP1	85456	broad.mit.edu	37	11	57068391	57068391	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:57068391A>G	uc001njr.2	-	9	5408	c.5096T>C	c.(5095-5097)CTC>CCC	p.L1699P	TNKS1BP1_uc001njp.2_Missense_Mutation_p.L271P|TNKS1BP1_uc001njq.2_Missense_Mutation_p.L272P|TNKS1BP1_uc001njs.2_Missense_Mutation_p.L1699P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1699	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				AGGTAACGTGAGGGGCTTTCC	0.552												
TNKS1BP1	85456	broad.mit.edu	37	11	57080070	57080070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:57080070C>T	uc001njr.2	-	4	2404	c.2092G>A	c.(2092-2094)GGT>AGT	p.G698S	TNKS1BP1_uc001njs.2_Missense_Mutation_p.G698S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G149S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	698	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				CGCCTTGCACCGCCACCACTG	0.627												
CTNND1	1500	broad.mit.edu	37	11	57569533	57569533	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:57569533T>C	uc001nmc.3	+	7	1856	c.1285T>C	c.(1285-1287)TGT>CGT	p.C429R	CTNND1_uc001nlh.1_Missense_Mutation_p.C429R|CTNND1_uc001nlu.3_Missense_Mutation_p.C328R|CTNND1_uc001nlt.3_Missense_Mutation_p.C328R|CTNND1_uc001nls.3_Missense_Mutation_p.C328R|CTNND1_uc001nlw.3_Missense_Mutation_p.C328R|CTNND1_uc001nmf.3_Missense_Mutation_p.C429R|CTNND1_uc001nmd.3_Missense_Mutation_p.C375R|CTNND1_uc001nlk.3_Missense_Mutation_p.C375R|CTNND1_uc001nme.3_Missense_Mutation_p.C429R|CTNND1_uc001nll.3_Missense_Mutation_p.C375R|CTNND1_uc001nmg.3_Missense_Mutation_p.C375R|CTNND1_uc001nlj.3_Missense_Mutation_p.C375R|CTNND1_uc001nlr.3_Missense_Mutation_p.C375R|CTNND1_uc001nlp.3_Missense_Mutation_p.C375R|CTNND1_uc001nlx.3_Missense_Mutation_p.C106R|CTNND1_uc001nlz.3_Missense_Mutation_p.C106R|CTNND1_uc009ymn.2_Missense_Mutation_p.C106R|CTNND1_uc001nlm.3_Missense_Mutation_p.C429R|CTNND1_uc001nly.3_Missense_Mutation_p.C106R|CTNND1_uc001nmb.3_Missense_Mutation_p.C106R|CTNND1_uc001nma.3_Missense_Mutation_p.C106R|CTNND1_uc001nmi.3_Missense_Mutation_p.C328R|CTNND1_uc001nmh.3_Missense_Mutation_p.C429R|CTNND1_uc001nlq.3_Missense_Mutation_p.C328R|CTNND1_uc001nln.3_Missense_Mutation_p.C429R|CTNND1_uc001nli.3_Missense_Mutation_p.C429R|CTNND1_uc001nlo.3_Missense_Mutation_p.C328R|CTNND1_uc001nlv.3_Missense_Mutation_p.C328R	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	429	ARM 2.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				CCTTGGAGCCTGTGGAGCTCT	0.493												
SCGB1D4	404552	broad.mit.edu	37	11	62064988	62064988	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:62064988G>A	uc001ntd.1	-	2	252	c.198C>T	c.(196-198)ACC>ACT	p.T66T		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	secretoglobin family 1D member 4 precursor	66						extracellular region	binding				0						ATATCTGATCGGTGCAGTGCT	0.438												
MTA2	9219	broad.mit.edu	37	11	62361871	62361871	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:62361871C>T	uc001ntq.1	-	17	2082	c.1701G>A	c.(1699-1701)GGG>GGA	p.G567G	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.G394G	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	567					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GAACCCCTGCCCCTGCCATCT	0.557												
LRRN4CL	221091	broad.mit.edu	37	11	62455768	62455768	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:62455768G>A	uc001nun.2	-	2	520	c.213C>T	c.(211-213)TGC>TGT	p.C71C		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	71	Extracellular (Potential).					integral to membrane					0						CTGGGCACAGGCAGGCCGCCG	0.726												
SLC22A11	55867	broad.mit.edu	37	11	64336156	64336156	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64336156C>T	uc001oai.2	+	8	1662	c.1288C>T	c.(1288-1290)CGT>TGT	p.R430C	SLC22A11_uc001oaj.2_Missense_Mutation_p.R430C|SLC22A11_uc009ypq.2_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	430	Extracellular (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	GCAGACCCTGCGTGTGGTCTT	0.582												
PYGM	5837	broad.mit.edu	37	11	64527189	64527189	+	Missense_Mutation	SNP	C	C	T	rs145514333	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64527189C>T	uc001oax.3	-	1	999	c.182G>A	c.(181-183)CGC>CAC	p.R61H	PYGM_uc001oay.3_Missense_Mutation_p.R61H	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	61					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GAGGTGGTCGCGCACGGTATG	0.597												
CDC42BPG	55561	broad.mit.edu	37	11	64603009	64603009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64603009C>T	uc001obs.3	-	15	1843	c.1843G>A	c.(1843-1845)GCC>ACC	p.A615T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	615	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TCTCGCAGGGCGGCCACCTCC	0.692												
CDC42BPG	55561	broad.mit.edu	37	11	64606620	64606620	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64606620C>T	uc001obs.3	-	7	761	c.761G>A	c.(760-762)GGC>GAC	p.G254D		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	254	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						ACACTGTGGGCCGTAGTGGCC	0.597												
ATG2A	23130	broad.mit.edu	37	11	64665575	64665575	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:64665575C>A	uc001obx.2	-	34	4956	c.4841G>T	c.(4840-4842)GGG>GTG	p.G1614V	ATG2A_uc001obw.2_Missense_Mutation_p.G379V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1614							protein binding			ovary(1)|central_nervous_system(1)	2						GGAGGTCTCCCCTGGGACCAC	0.622											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
MAP3K11	4296	broad.mit.edu	37	11	65365879	65365879	+	Silent	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65365879T>G	uc001oew.2	-	10	2920	c.2427A>C	c.(2425-2427)TCA>TCC	p.S809S	KCNK7_uc001oeq.2_5'Flank|KCNK7_uc001oer.2_5'Flank|KCNK7_uc001oes.2_5'Flank|KCNK7_uc001oeu.2_5'Flank|MAP3K11_uc001oev.2_Silent_p.S225S|MAP3K11_uc010rol.1_Silent_p.S552S|MAP3K11_uc001oex.1_Silent_p.S298S	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	809	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						AGAAGGGGTCTGAGTCCGGGA	0.672												
PCNXL3	399909	broad.mit.edu	37	11	65396109	65396109	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65396109T>G	uc001oey.2	+	23	3746	c.3746T>G	c.(3745-3747)ATC>AGC	p.I1249S	PCNXL3_uc001oez.2_Missense_Mutation_p.I136S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1249	Helical; (Potential).					integral to membrane					0						CTGACCTACATCGCGCCCTGG	0.602												
KAT5	10524	broad.mit.edu	37	11	65481995	65481995	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65481995G>A	uc001ofi.2	+	8	871	c.621G>A	c.(619-621)CCG>CCA	p.P207P	KAT5_uc001ofj.2_Silent_p.P155P|KAT5_uc001ofk.2_Silent_p.P240P|KAT5_uc010roo.1_Silent_p.P188P|KAT5_uc001ofl.2_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	207					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						ATGGAATACCGTCAGCACCAC	0.527												
SF3B2	10992	broad.mit.edu	37	11	65827423	65827423	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:65827423G>A	uc001ogy.1	+	13	1612	c.1572G>A	c.(1570-1572)CTG>CTA	p.L524L		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	524					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CCTTCGAGCTGCCAGACTTCA	0.617												
KDM2A	22992	broad.mit.edu	37	11	67018078	67018078	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:67018078A>G	uc001ojw.2	+	17	3441	c.2577A>G	c.(2575-2577)GAA>GAG	p.E859E	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.E553E|KDM2A_uc010rpn.1_Silent_p.E420E|KDM2A_uc001ojz.1_Silent_p.E317E|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						aggaggaggaagaggaggagg	0.473												
RPS6KB2	6199	broad.mit.edu	37	11	67201891	67201891	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:67201891G>A	uc001old.2	+	13	1173	c.1091G>A	c.(1090-1092)CGG>CAG	p.R364Q	RPS6KB2_uc001olf.2_Missense_Mutation_p.R164Q|RPS6KB2_uc001olg.2_Missense_Mutation_p.R364Q|RPS6KB2_uc009yrq.2_Missense_Mutation_p.R164Q|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R195Q	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	364	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCTTCACACGGCAGACGCCG	0.647												
GDPD4	220032	broad.mit.edu	37	11	76938960	76938960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:76938960G>A	uc001oyf.2	-	15	1725	c.1474C>T	c.(1474-1476)CGG>TGG	p.R492W		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	492	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						GTCTCTCTCCGCCTAGAAGGA	0.478												
KCTD21	283219	broad.mit.edu	37	11	77885448	77885448	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:77885448A>C	uc001ozb.2	-	2	228	c.153T>G	c.(151-153)CGT>CGG	p.R51R		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	51	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			CTTTGCCGTCACGGTCAATGA	0.612												
PIWIL4	143689	broad.mit.edu	37	11	94320238	94320238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:94320238G>A	uc001pfa.2	+	7	950	c.739G>A	c.(739-741)GCC>ACC	p.A247T	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	247					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCTGGGTTTGCCATTTCTGT	0.358												
DDI1	414301	broad.mit.edu	37	11	103908053	103908053	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:103908053C>T	uc001phr.2	+	1	746	c.503C>T	c.(502-504)GCG>GTG	p.A168V	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	168					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTCCCTTGGCGGAAGCCCTG	0.612												
HTR3B	9177	broad.mit.edu	37	11	113813714	113813714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:113813714G>A	uc001pok.2	+	7	774	c.707G>A	c.(706-708)CGC>CAC	p.R236H	HTR3B_uc001pol.2_Missense_Mutation_p.R225H	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	236	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GTGGTGATGCGCAGGCACCCC	0.552												
FAM55D	54827	broad.mit.edu	37	11	114453511	114453511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:114453511G>A	uc001ppc.2	-	3	510	c.329C>T	c.(328-330)ACG>ATG	p.T110M	FAM55D_uc001ppd.2_Translation_Start_Site	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	110						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CCTGCAGTACGTATCTCGAGG	0.577												
BCL9L	283149	broad.mit.edu	37	11	118773280	118773280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:118773280C>T	uc001pug.2	-	6	2137	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H	BCL9L_uc009zal.2_Missense_Mutation_p.R386H	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	391	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACCAGGCTGCGCTGCCCATT	0.682												
VPS11	55823	broad.mit.edu	37	11	118942398	118942398	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:118942398G>T	uc010ryx.1	+	6	771	c.729G>T	c.(727-729)CAG>CAT	p.Q243H	VPS11_uc010ryy.1_Missense_Mutation_p.Q89H	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	243					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACCCTTCTCAGGACCTGCAGT	0.557												
RNF26	79102	broad.mit.edu	37	11	119206740	119206740	+	Missense_Mutation	SNP	G	G	A	rs144743618	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:119206740G>A	uc001pwh.2	+	1	1504	c.908G>A	c.(907-909)CGG>CAG	p.R303Q		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	303							zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TGGCCAAACCGGGGAGGGGCA	0.637												
CCDC15	80071	broad.mit.edu	37	11	124824758	124824758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:124824758G>A	uc001qbm.3	+	2	389	c.130G>A	c.(130-132)GCA>ACA	p.A44T		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	44						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCAGTTGGGGCATGGGTGGA	0.517												
ARHGAP32	9743	broad.mit.edu	37	11	128840482	128840482	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:128840482G>T	uc009zcp.2	-	22	4584	c.4584C>A	c.(4582-4584)GCC>GCA	p.A1528A	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.A487A|ARHGAP32_uc001qez.2_Silent_p.A1179A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1528	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GACCCATGGAGGCTGGTGGCT	0.522												
NTF3	4908	broad.mit.edu	37	12	5603748	5603748	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:5603748A>G	uc001qnl.3	+	1	451	c.368A>G	c.(367-369)TAC>TGC	p.Y123C	NTF3_uc001qnk.3_Missense_Mutation_p.Y136C	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	123					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						ATGGAGGATTACGTGGGCAGC	0.602												
NCAPD2	9918	broad.mit.edu	37	12	6619795	6619795	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:6619795T>C	uc001qoo.2	+	5	309	c.263T>C	c.(262-264)GTG>GCG	p.V88A	NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Missense_Mutation_p.M43T	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	88	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CCCCTCACAGTGGTATCCCGC	0.463												
CD163L1	283316	broad.mit.edu	37	12	7526069	7526069	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:7526069T>C	uc001qsy.2	-	14	3603	c.3577A>G	c.(3577-3579)AGC>GGC	p.S1193G	CD163L1_uc010sge.1_Missense_Mutation_p.S1203G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1193	SRCR 11.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GGGGCGAGGCTGACAACTCCA	0.557												
NECAP1	25977	broad.mit.edu	37	12	8245509	8245509	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:8245509T>C	uc001qtx.2	+	6	612	c.534T>C	c.(532-534)ACT>ACC	p.T178T	NECAP1_uc001qty.2_Silent_p.T36T	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	178					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		AGCCCAGGACTGCAAGGGGTG	0.498												
CLEC7A	64581	broad.mit.edu	37	12	10278042	10278042	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:10278042G>T	uc001qxg.2	-	4	533	c.346C>A	c.(346-348)CTT>ATT	p.L116I	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.L70I|CLEC7A_uc001qxh.2_Missense_Mutation_p.L70I|CLEC7A_uc001qxi.2_Missense_Mutation_p.L116I|CLEC7A_uc001qxj.2_Missense_Mutation_p.L37I|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.L116I|CLEC7A_uc010sgy.1_Missense_Mutation_p.L70I|CLEC7A_uc001qxm.1_Missense_Mutation_p.L70I	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	116	Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						GGGCTGGAAAGAACCCCTGGA	0.373												
C12orf59	120939	broad.mit.edu	37	12	10339021	10339021	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:10339021T>C	uc001qxr.2	+	4	757	c.140T>C	c.(139-141)TTG>TCG	p.L47S	C12orf59_uc001qxq.2_Missense_Mutation_p.L27S			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	47	Helical; (Potential).					integral to membrane				ovary(1)	1						TTTTGCAGGTTGCTAGTGGTA	0.557												
CSDA	8531	broad.mit.edu	37	12	10865891	10865891	+	Silent	SNP	A	A	G	rs138612290		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:10865891A>G	uc001qyt.2	-	5	735	c.492T>C	c.(490-492)CCT>CCC	p.P164P	CSDA_uc001qyu.2_Silent_p.P164P	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	164					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					TCCCTTCCACAGGAACTCCAT	0.493												
LMO3	55885	broad.mit.edu	37	12	16753742	16753742	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:16753742C>T	uc001rdk.1	-	2	493	c.53G>A	c.(52-54)CGA>CAA	p.R18Q	LMO3_uc001rdj.1_Missense_Mutation_p.R29Q|LMO3_uc010shy.1_Missense_Mutation_p.R36Q|LMO3_uc001rdl.1_Missense_Mutation_p.R18Q|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Missense_Mutation_p.R18Q|LMO3_uc001rdm.1_Missense_Mutation_p.R18Q|LMO3_uc001rdo.1_RNA|LMO3_uc001rdp.1_RNA|LMO3_uc001rdn.1_Missense_Mutation_p.R18Q|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	18	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				CTTGATCTTTCGGTTGCAGCC	0.502												
ABCC9	10060	broad.mit.edu	37	12	21965082	21965082	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:21965082A>G	uc001rfi.1	-	34	4132	c.4112T>C	c.(4111-4113)GTC>GCC	p.V1371A	ABCC9_uc001rfh.2_Missense_Mutation_p.V1371A|ABCC9_uc001rfj.1_Missense_Mutation_p.V1335A	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1371	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCATCAATGACAATTTTTCC	0.328												
PKP2	5318	broad.mit.edu	37	12	33030839	33030839	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:33030839G>A	uc001rlj.3	-	3	1090	c.975C>T	c.(973-975)GCC>GCT	p.A325A	PKP2_uc001rlk.3_Silent_p.A325A|PKP2_uc010skj.1_Silent_p.A325A	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	325					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTCCCCCTGCGGCCGCCTGGC	0.622												
RAPGEF3	10411	broad.mit.edu	37	12	48141517	48141517	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:48141517G>T	uc009zkp.2	-	13	1765	c.1325C>A	c.(1324-1326)CCT>CAT	p.P442H	RAPGEF3_uc001rpx.2_5'Flank|RAPGEF3_uc010sln.1_Missense_Mutation_p.P6H|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.P442H|RAPGEF3_uc001rpz.3_Missense_Mutation_p.P484H|RAPGEF3_uc001rqa.2_Missense_Mutation_p.P6H	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	442					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGTGGCCACAGGGTCAGTGTG	0.632												
FMNL3	91010	broad.mit.edu	37	12	50048048	50048048	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:50048048G>A	uc001ruv.1	-	11	1232	c.998C>T	c.(997-999)TCG>TTG	p.S333L	FMNL3_uc001ruw.1_Missense_Mutation_p.S282L|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.S183L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	333	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GTCCTCCACCGAGTGCACCAC	0.567												
CSRNP2	81566	broad.mit.edu	37	12	51461619	51461619	+	Missense_Mutation	SNP	C	C	T	rs148149139		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:51461619C>T	uc001rxu.1	-	4	843	c.545G>A	c.(544-546)CGG>CAG	p.R182Q		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	182					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCCCGTCGCCGTTTGGTGGG	0.537												
AMHR2	269	broad.mit.edu	37	12	53818998	53818998	+	Silent	SNP	C	C	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:53818998C>G	uc001scx.1	+	4	552	c.474C>G	c.(472-474)CTC>CTG	p.L158L	AMHR2_uc009zmy.1_Silent_p.L158L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	158	Helical; (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	TCCTCCTCCTCCTGCTGCTGC	0.582									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			
ITGA7	3679	broad.mit.edu	37	12	56094925	56094925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:56094925C>T	uc001shh.2	-	4	648	c.428G>A	c.(427-429)CGA>CAA	p.R143Q	ITGA7_uc001shg.2_Missense_Mutation_p.R143Q|ITGA7_uc010sps.1_Missense_Mutation_p.R46Q|ITGA7_uc009znx.2_Missense_Mutation_p.R30Q	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	143	FG-GAP 2.|Extracellular (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						TGCCTCATATCGGTGTGCACA	0.582												
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		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	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517												
ERBB3	2065	broad.mit.edu	37	12	56487212	56487212	+	Missense_Mutation	SNP	G	G	A	rs144549266	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:56487212G>A	uc001sjh.2	+	12	1551	c.1358G>A	c.(1357-1359)CGT>CAT	p.R453H	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R394H|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R21H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	453	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)			AGTGCTGGGCGTATCTATATA	0.493												
ARHGAP9	64333	broad.mit.edu	37	12	57869299	57869299	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:57869299G>A	uc001sod.2	-	14	1874	c.1681C>T	c.(1681-1683)CCG>TCG	p.P561S	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.P287S|ARHGAP9_uc001soa.2_Missense_Mutation_p.P160S|ARHGAP9_uc001sob.2_Missense_Mutation_p.P471S|ARHGAP9_uc001soc.2_Missense_Mutation_p.P471S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P550S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	490					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			CGCAGCAGCGGCTTGGACACC	0.731												
DTX3	196403	broad.mit.edu	37	12	58001201	58001201	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:58001201C>T	uc001sow.1	+	5	892	c.555C>T	c.(553-555)TGC>TGT	p.C185C	DTX3_uc001sov.1_Silent_p.C178C|DTX3_uc001sox.1_Silent_p.C178C|DTX3_uc001soy.1_Silent_p.C178C|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	deltex homolog 3	185	RING-type.				Notch signaling pathway	cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					ATTCATTCTGCGAGGGCTGCA	0.602												
ZFC3H1	196441	broad.mit.edu	37	12	72026034	72026034	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:72026034A>C	uc001swo.2	-	15	3437	c.3078T>G	c.(3076-3078)ACT>ACG	p.T1026T		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1026					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CATTTTCTTCAGTGTCCAGGG	0.358												
NAV3	89795	broad.mit.edu	37	12	78531042	78531042	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:78531042C>T	uc001syp.2	+	19	4700	c.4527C>T	c.(4525-4527)TTC>TTT	p.F1509F	NAV3_uc001syo.2_Silent_p.F1509F|NAV3_uc010sub.1_Silent_p.F995F|NAV3_uc009zsf.2_Silent_p.F340F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1509	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACTCTTCCTTCGATCTCTATG	0.502										HNSCC(70;0.22)		
CCDC59	29080	broad.mit.edu	37	12	82750907	82750907	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:82750907G>A	uc001szp.3	-	2	340	c.296C>T	c.(295-297)GCT>GTT	p.A99V	C12orf26_uc001szq.2_5'Flank	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0						TTCCTCTTCAGCTAAATAGAG	0.418												
DCN	1634	broad.mit.edu	37	12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	rs144174426		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:91546948G>A	uc001tbs.2	-	5	765	c.671C>T	c.(670-672)ACG>ATG	p.T224M	DCN_uc001tbo.2_Missense_Mutation_p.T115M|DCN_uc001tbp.2_Missense_Mutation_p.T77M|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.T224M|DCN_uc001tbu.2_Missense_Mutation_p.T224M	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	224	LRR 7.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						ATGTAATTCCGTAAGGGAAGG	0.348												
PLXNC1	10154	broad.mit.edu	37	12	94563012	94563012	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:94563012C>T	uc001tdc.2	+	2	1395	c.1146C>T	c.(1144-1146)ACC>ACT	p.T382T		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	382	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TTTATGGCACCGTGGTAATGA	0.433												
PAH	5053	broad.mit.edu	37	12	103246714	103246714	+	Missense_Mutation	SNP	G	G	A	rs76687508		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:103246714G>A	uc001tjq.1	-	8	1193	c.721C>T	c.(721-723)CGC>TGC	p.R241C		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	241			R -> C (in non-PKU HPA and PKU; haplotype 34).|R -> H (in PKU; haplotypes 1,5).|R -> L (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGTCGGAGGCGGAAACCAGTG	0.517												
BTBD11	121551	broad.mit.edu	37	12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:108004005C>T	uc001tmk.1	+	5	2203	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	BTBD11_uc009zut.1_Missense_Mutation_p.A561V|BTBD11_uc001tmj.2_Missense_Mutation_p.A561V|BTBD11_uc001tml.1_Missense_Mutation_p.A98V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	561						integral to membrane	DNA binding			skin(2)|ovary(1)	3						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SELPLG	6404	broad.mit.edu	37	12	109017883	109017883	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:109017883A>C	uc001tni.2	-	2	361	c.201T>G	c.(199-201)ACT>ACG	p.T67T	SELPLG_uc001tnh.2_Silent_p.T67T|SELPLG_uc010sxe.1_Silent_p.T83T	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	67	Extracellular (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						GAGTGGTGTCAGTGCTGTTCC	0.582												
MMAB	326625	broad.mit.edu	37	12	109998868	109998868	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:109998868G>A	uc001tou.2	-	7	634	c.561C>T	c.(559-561)GCC>GCT	p.A187A	MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Silent_p.A96A|MMAB_uc001tox.2_Silent_p.A135A	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor	187					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGGCACACGGCCCGGCAGA	0.438												
ANKRD13A	88455	broad.mit.edu	37	12	110461908	110461908	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:110461908C>T	uc001tpx.2	+	7	1051	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.1_Silent_p.Y264Y|ANKRD13A_uc001tpy.2_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	264											0						TTAATGGTTACGAAGCAAAGG	0.343												
TBX3	6926	broad.mit.edu	37	12	115114185	115114185	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:115114185T>C	uc001tvt.1	-	6	1996	c.1032A>G	c.(1030-1032)GCA>GCG	p.A344A	TBX3_uc001tvu.1_Silent_p.A324A	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	344					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGTTGAAAGCTGCTTGTTCAC	0.507												
BCL7A	605	broad.mit.edu	37	12	122468634	122468634	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:122468634A>G	uc001ubp.2	+	2	258	c.121A>G	c.(121-123)ACA>GCA	p.T41A	BCL7A_uc001ubo.2_Missense_Mutation_p.T41A	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A isoform b	41					negative regulation of transcription, DNA-dependent					ovary(1)|lung(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CGTTGGTGACACATCCCTACG	0.587			T	MYC	BNHL							
SBNO1	55206	broad.mit.edu	37	12	123810761	123810761	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:123810761A>G	uc010tap.1	-	13	1813	c.1813T>C	c.(1813-1815)TGC>CGC	p.C605R	SBNO1_uc010tao.1_Missense_Mutation_p.C604R|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.C605R|SBNO1_uc001ueu.2_Missense_Mutation_p.C604R|SBNO1_uc001uev.2_Missense_Mutation_p.C603R|SBNO1_uc009zxy.1_Missense_Mutation_p.C570R	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	605							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)		GATGCTATGCATAAGTATTTG	0.423												
DNAH10	196385	broad.mit.edu	37	12	124409684	124409684	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:124409684C>T	uc001uft.3	+	67	11525	c.11500C>T	c.(11500-11502)CGC>TGC	p.R3834C	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3834	TPR 4.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTTATTTTGCGCTGTTTCCG	0.478												
CHFR	55743	broad.mit.edu	37	12	133438121	133438121	+	Missense_Mutation	SNP	G	G	A	rs150995074	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:133438121G>A	uc001ulf.2	-	7	803	c.719C>T	c.(718-720)GCG>GTG	p.A240V	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A228V|CHFR_uc010tbs.1_Missense_Mutation_p.A240V|CHFR_uc001uld.2_Missense_Mutation_p.A199V|CHFR_uc010tbt.1_Missense_Mutation_p.A148V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	240					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CGAAAAGGACGCAGTCTTTCT	0.542												
XPO4	64328	broad.mit.edu	37	13	21417071	21417071	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:21417071G>A	uc001unq.3	-	6	726	c.690C>T	c.(688-690)GCC>GCT	p.A230A	XPO4_uc010tcr.1_Silent_p.A156A	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	230					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGACTTGATTGGCGAGTGCAA	0.388												
PAN3	255967	broad.mit.edu	37	13	28866563	28866563	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:28866563T>C	uc001urz.2	+	18	2138	c.2130T>C	c.(2128-2130)GAT>GAC	p.D710D	PAN3_uc001ury.2_Silent_p.D544D|PAN3_uc001urx.2_Silent_p.D656D	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	856	Interaction with PAN2.			D -> G (in Ref. 5; BAD02262/BAD93184).	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTTCCAGAGATGAGAAGAGTG	0.358												
MTUS2	23281	broad.mit.edu	37	13	29600668	29600668	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:29600668G>A	uc001usl.3	+	1	1921	c.1863G>A	c.(1861-1863)TCG>TCA	p.S621S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	611						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CACCTTCCTCGCAGGAGGGAA	0.517												
STARD13	90627	broad.mit.edu	37	13	33701564	33701564	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:33701564C>T	uc001uuw.2	-	6	1994	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	STARD13_uc001uuu.2_Missense_Mutation_p.R615H|STARD13_uc001uuv.2_Missense_Mutation_p.R505H|STARD13_uc001uux.2_Missense_Mutation_p.R588H|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R608H	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	623					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCCGTGAGGCGGAGCAGTGA	0.632												
POSTN	10631	broad.mit.edu	37	13	38164611	38164611	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:38164611C>T	uc001uwo.3	-	4	457	c.339G>A	c.(337-339)ACG>ACA	p.T113T	POSTN_uc001uwp.3_Silent_p.T113T|POSTN_uc001uwr.2_Silent_p.T113T|POSTN_uc001uwq.2_Silent_p.T113T|POSTN_uc010teu.1_Silent_p.T113T|POSTN_uc010tev.1_Silent_p.T113T|POSTN_uc010tew.1_Silent_p.T113T|POSTN_uc010tex.1_Silent_p.T28T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	113	FAS1 1.				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)		AATAGCGCTGCGTTGTGGTGG	0.468												
TRPC4	7223	broad.mit.edu	37	13	38357396	38357396	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:38357396T>C	uc001uws.2	-	2	310	c.75A>G	c.(73-75)GCA>GCG	p.A25A	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.A25A|TRPC4_uc010tey.1_Silent_p.A25A|TRPC4_uc010abw.2_Silent_p.A25A|TRPC4_uc010abx.2_Silent_p.A25A|TRPC4_uc010aby.2_Silent_p.A25A	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	25	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTTCTGATTCTGCTCTTACTA	0.403												
ZC3H13	23091	broad.mit.edu	37	13	46542002	46542002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:46542002G>A	uc010tfw.1	-	14	3964	c.3958C>T	c.(3958-3960)CAG>TAG	p.Q1320*	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Nonsense_Mutation_p.Q1320*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1320	Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cattctctctgcctcgtatct	0.139												
ATP7B	540	broad.mit.edu	37	13	52518300	52518300	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:52518300G>A	uc001vfw.2	-	14	3345	c.3188C>T	c.(3187-3189)GCG>GTG	p.A1063V	ATP7B_uc010adv.2_Missense_Mutation_p.A633V|ATP7B_uc001vfx.2_Missense_Mutation_p.A856V|ATP7B_uc001vfy.2_Missense_Mutation_p.A952V|ATP7B_uc010tgt.1_Missense_Mutation_p.A998V|ATP7B_uc010tgu.1_Missense_Mutation_p.A1015V|ATP7B_uc010tgv.1_Missense_Mutation_p.A985V|ATP7B_uc001vfv.2_Missense_Mutation_p.A335V|ATP7B_uc010tgs.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1063	Cytoplasmic (Potential).		A -> V (in WD; could be a polymorphism).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTGGCCTCCGCAGTCCCCAC	0.637									Wilson_disease			
HNRNPA1L2	144983	broad.mit.edu	37	13	53216744	53216744	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:53216744G>A	uc001vgx.1	+	7	1190	c.117G>A	c.(115-117)ACG>ACA	p.T39T	HNRNPA1L2_uc001vgy.1_Silent_p.T39T|HNRNPA1L2_uc001vgz.1_Silent_p.T39T	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	39	Globular A domain.|RRM 1.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						AATGGGGAACGCTCACAGACT	0.512												
PCDH17	27253	broad.mit.edu	37	13	58299326	58299326	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:58299326G>T	uc001vhq.1	+	4	4270	c.3378G>T	c.(3376-3378)AGG>AGT	p.R1126S	PCDH17_uc010aec.1_Missense_Mutation_p.R1125S|PCDH17_uc001vhr.1_Missense_Mutation_p.R215S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1126	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCCCAACAGGGATCTGGGCA	0.532												
TBC1D4	9882	broad.mit.edu	37	13	76055811	76055811	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:76055811T>C	uc001vjl.1	-	1	440	c.93A>G	c.(91-93)CCA>CCG	p.P31P	TBC1D4_uc010aer.2_Silent_p.P31P|TBC1D4_uc010aes.2_Silent_p.P31P	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	31						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)		GCTTATCGCTTGGCTTCCCGG	0.682												
SLITRK6	84189	broad.mit.edu	37	13	86368486	86368486	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:86368486T>G	uc001vll.1	-	2	2617	c.2158A>C	c.(2158-2160)AGT>CGT	p.S720R	SLITRK6_uc010afe.1_Missense_Mutation_p.S173R	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	720	Cytoplasmic (Potential).					integral to membrane		p.S720C(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCAAAAGACTTCTTTGGAGA	0.398												
SLITRK5	26050	broad.mit.edu	37	13	88330473	88330473	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:88330473G>A	uc001vln.2	+	2	3049	c.2830G>A	c.(2830-2832)GAC>AAC	p.D944N	SLITRK5_uc010tic.1_Missense_Mutation_p.D703N	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	944	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGTTGAGCCGGACTACCTCGA	0.463												
SOX21	11166	broad.mit.edu	37	13	95364182	95364182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:95364182C>T	uc001vma.2	-	1	208	c.122G>A	c.(121-123)CGC>CAC	p.R41H	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	41	HMG box.			R -> P (in Ref. 4; CAA50466).	regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GGCGCCCAAGCGCTTGCTGAT	0.627												
FARP1	10160	broad.mit.edu	37	13	99093014	99093014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:99093014G>A	uc001vnj.2	+	24	3056	c.2720G>A	c.(2719-2721)CGC>CAC	p.R907H	FARP1_uc001vnh.2_Missense_Mutation_p.R938H	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	907					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCCCGCACCGCGGCAACACA	0.647												
TPP2	7174	broad.mit.edu	37	13	103288709	103288709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:103288709G>A	uc001vpi.3	+	13	1748	c.1645G>A	c.(1645-1647)GTT>ATT	p.V549I		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	549					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGATCATGGCGTTGGCATTGA	0.423												
ERCC5	2073	broad.mit.edu	37	13	103459756	103459756	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:103459756C>T	uc001vpu.1	+	1	261	c.139C>T	c.(139-141)CCC>TCC	p.P47S	BIVM_uc001vps.2_Missense_Mutation_p.P47S|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.P47S	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCTTGGGTCCCAAAGGAGA	0.463			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
CARS2	79587	broad.mit.edu	37	13	111303398	111303398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:111303398C>T	uc001vrd.2	-	10	1077	c.1037G>A	c.(1036-1038)CGG>CAG	p.R346Q	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	346					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GTAGCTGCTCCGCAGGCAGAA	0.562												
MCF2L	23263	broad.mit.edu	37	13	113742894	113742894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:113742894C>T	uc001vsu.2	+	25	2979	c.2957C>T	c.(2956-2958)GCG>GTG	p.A986V	MCF2L_uc001vsq.2_Missense_Mutation_p.A986V|MCF2L_uc010tjr.1_Missense_Mutation_p.A929V|MCF2L_uc001vsr.2_Missense_Mutation_p.A933V|MCF2L_uc001vss.3_Missense_Mutation_p.A927V|MCF2L_uc010tjs.1_Missense_Mutation_p.A927V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	959					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)				CAGCACCGGGCGCTGGAGCAG	0.657												
PROZ	8858	broad.mit.edu	37	13	113812986	113812986	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:113812986C>T	uc001vta.1	+	1	19	c.12C>T	c.(10-12)TGC>TGT	p.C4C	PROZ_uc010agr.1_Silent_p.C4C	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	4					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGGCAGGCTGCGTCCCACTGC	0.662												
OR5AU1	390445	broad.mit.edu	37	14	21623694	21623694	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:21623694T>C	uc010tlp.1	-	1	491	c.491A>G	c.(490-492)TAT>TGT	p.Y164C		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU,	164	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGCGATGAGATAGCACTCACT	0.507												
MYH7	4625	broad.mit.edu	37	14	23886806	23886806	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:23886806C>A	uc001wjx.2	-	31	4365	c.4259G>T	c.(4258-4260)CGG>CTG	p.R1420L		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1420	Potential.		R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATTCTGTAGCCGGTGCTTGGT	0.602												
NGDN	25983	broad.mit.edu	37	14	23945486	23945486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:23945486C>T	uc001wjy.2	+	8	610	c.583C>T	c.(583-585)CGA>TGA	p.R195*	NGDN_uc001wjz.2_Nonsense_Mutation_p.R195*|NGDN_uc001wka.2_RNA	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	195	Potential.				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTCTAGAACGAGCCAAGAG	0.473												
IPO4	79711	broad.mit.edu	37	14	24656743	24656743	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:24656743C>T	uc001wmv.1	-	6	582	c.451G>A	c.(451-453)GAG>AAG	p.E151K	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.E15K|IPO4_uc001wmy.1_Missense_Mutation_p.E15K|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.E151K	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	151					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		TGGAAGGCCTCGGGCCGGGAG	0.582												
PRKD1	5587	broad.mit.edu	37	14	30047479	30047479	+	Splice_Site	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:30047479A>G	uc001wqh.2	-	17	2701	c.2520_splice	c.e17+1	p.Q840_splice		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1						cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATTATTGTTTACCTGTAGCCA	0.308												
HECTD1	25831	broad.mit.edu	37	14	31592134	31592134	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:31592134A>G	uc001wrc.1	-	27	5590	c.5101T>C	c.(5101-5103)TAC>CAC	p.Y1701H	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.Y1169H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1701					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACCTCCTCGTATTCTTGGTCC	0.393												
HECTD1	25831	broad.mit.edu	37	14	31619373	31619373	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:31619373A>G	uc001wrc.1	-	13	2476	c.1987T>C	c.(1987-1989)TGG>CGG	p.W663R	HECTD1_uc001wrd.1_Missense_Mutation_p.W178R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	663					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGTCTCTCCAATGATATGGT	0.358												
HEATR5A	25938	broad.mit.edu	37	14	31856542	31856542	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:31856542G>A	uc001wrf.3	-	2	171	c.94C>T	c.(94-96)CTA>TTA	p.L32L	HEATR5A_uc010ami.2_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Silent_p.L325L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	319							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTTCTCTAGCCAAGCTCCT	0.403												
INSM2	84684	broad.mit.edu	37	14	36004422	36004422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:36004422G>A	uc001wth.1	+	1	1175	c.964G>A	c.(964-966)GCC>ACC	p.A322T		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GGCTGCAAACGCCGCCACAGT	0.647												
TRIM9	114088	broad.mit.edu	37	14	51561212	51561212	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:51561212C>T	uc001wyx.3	-	1	1211	c.446G>A	c.(445-447)CGC>CAC	p.R149H	TRIM9_uc001wyy.2_Missense_Mutation_p.R149H|TRIM9_uc001wyz.3_Missense_Mutation_p.R149H	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	149					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					TTCCAGTACGCGATTCTTGGG	0.657												
SAMD4A	23034	broad.mit.edu	37	14	55203855	55203855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:55203855C>T	uc001xbb.2	+	3	827	c.826C>T	c.(826-828)CGA>TGA	p.R276*	SAMD4A_uc001xbc.2_Intron	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	277					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						TGAGGACTTACGAGCTAGAGG	0.542												
SLC35F4	341880	broad.mit.edu	37	14	58038711	58038711	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:58038711G>A	uc001xdb.1	-	5	942	c.942C>T	c.(940-942)ACC>ACT	p.T314T	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.T155T	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						TGACAATGCCGGTAATTGCCA	0.433												
C14orf135	64430	broad.mit.edu	37	14	60585059	60585059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:60585059C>T	uc001xer.3	+	6	1411	c.889C>T	c.(889-891)CGT>TGT	p.R297C	C14orf135_uc001xeq.2_Missense_Mutation_p.R297C|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	531						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGGTATCATACGTGATCGTTT	0.323												
KCNH5	27133	broad.mit.edu	37	14	63269210	63269210	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:63269210C>T	uc001xfx.2	-	9	1710	c.1659G>A	c.(1657-1659)TTG>TTA	p.L553L	KCNH5_uc001xfy.2_Silent_p.L553L|KCNH5_uc001xfz.1_Silent_p.L495L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	553	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATCGCTGGCCAATCGAAAAG	0.507												
ESR2	2100	broad.mit.edu	37	14	64749567	64749567	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:64749567A>G	uc001xha.1	-	2	605	c.137T>C	c.(136-138)ATG>ACG	p.M46T	ESR2_uc001xgu.2_Missense_Mutation_p.M46T|ESR2_uc001xgv.2_Missense_Mutation_p.M46T|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.M46T|ESR2_uc001xgy.1_Missense_Mutation_p.M46T|ESR2_uc001xgz.1_Missense_Mutation_p.M46T|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.M46T	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	46	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATAGAATGTCATGGCTGGATA	0.498												
SFRS5	6430	broad.mit.edu	37	14	70237232	70237232	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:70237232G>A	uc001xll.2	+	7	1866	c.415G>A	c.(415-417)GCA>ACA	p.A139T	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Missense_Mutation_p.A139T|SFRS5_uc001xlp.2_Missense_Mutation_p.A139T|SFRS5_uc001xlq.2_Missense_Mutation_p.A136T	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	139	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		GTTTGCGGATGCACACCGACC	0.368												
ADAM20	8748	broad.mit.edu	37	14	70990808	70990808	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:70990808A>G	uc001xme.2	-	2	1062	c.817T>C	c.(817-819)TCT>CCT	p.S273P		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	223	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTACTTTGAGAGAAAAGATAT	0.388												
DCAF4	26094	broad.mit.edu	37	14	73422258	73422258	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:73422258T>C	uc001xng.2	+	12	1253	c.1033T>C	c.(1033-1035)TCT>CCT	p.S345P	DCAF4_uc001xnj.2_Missense_Mutation_p.S339P|DCAF4_uc010ttr.1_Missense_Mutation_p.S324P|DCAF4_uc001xnh.2_Missense_Mutation_p.S245P|DCAF4_uc010tts.1_Missense_Mutation_p.S285P|DCAF4_uc010ttt.1_Missense_Mutation_p.S131P|DCAF4_uc001xni.2_Missense_Mutation_p.S175P|DCAF4_uc001xnk.2_Missense_Mutation_p.S345P	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	345						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TGGCTGCCGCTCTGGGGAAAT	0.557												
PAPLN	89932	broad.mit.edu	37	14	73721644	73721644	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:73721644G>A	uc010ttx.1	+	13	1708	c.1545G>A	c.(1543-1545)CCG>CCA	p.P515P	PAPLN_uc001xnw.3_Silent_p.P488P|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.P515P	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	515	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCATTGGGCCGCCCAGCCACT	0.642												
YLPM1	56252	broad.mit.edu	37	14	75265236	75265236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:75265236G>A	uc001xqj.3	+	5	3360	c.3236G>A	c.(3235-3237)CGG>CAG	p.R1079Q	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	884	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAGGTAGCCGGGACAGAGGG	0.557												
TMED10	10972	broad.mit.edu	37	14	75614415	75614415	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:75614415G>A	uc001xrm.1	-	3	430	c.363C>T	c.(361-363)CTC>CTT	p.L121L	TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_5'UTR	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	121	Lumenal (Potential).|GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CTAGGATCACGAGTTGGTCAG	0.493												
TTC7B	145567	broad.mit.edu	37	14	91044549	91044549	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:91044549G>A	uc001xyp.2	-	19	2333	c.2211C>T	c.(2209-2211)GGC>GGT	p.G737G	TTC7B_uc001xyo.2_Silent_p.G181G|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	737	TPR 9.						binding			ovary(2)	2		Melanoma(154;0.222)				CAGCAATCTGGCCGCGCATGT	0.592												
TTC7B	145567	broad.mit.edu	37	14	91196513	91196513	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:91196513T>C	uc001xyp.2	-	5	726	c.604A>G	c.(604-606)AGC>GGC	p.S202G		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	202							binding			ovary(2)	2		Melanoma(154;0.222)				GGCTTAGGGCTTCTGTTTTGA	0.418												
ITPK1	3705	broad.mit.edu	37	14	93412766	93412766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:93412766G>A	uc001ybg.2	-	10	1100	c.811C>T	c.(811-813)CAG>TAG	p.Q271*	ITPK1_uc001ybe.2_Nonsense_Mutation_p.Q271*|ITPK1_uc001ybf.2_Nonsense_Mutation_p.Q152*|ITPK1_uc001ybh.2_Nonsense_Mutation_p.Q271*	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	271	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCCAGTGCCTGCCGCAGGGCC	0.617												
CLMN	79789	broad.mit.edu	37	14	95786068	95786068	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:95786068A>G	uc001yef.2	-	1	178	c.62T>C	c.(61-63)ATC>ACC	p.I21T		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	21	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		CTGCACTCGGATGTCGCTAAT	0.632												
BDKRB1	623	broad.mit.edu	37	14	96730468	96730468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:96730468G>A	uc001yfh.2	+	3	657	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	BDKRB1_uc010avn.2_Missense_Mutation_p.R150Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	150	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGGCAGCAGCGGCGGAGGCAG	0.632												
BCL11B	64919	broad.mit.edu	37	14	99641328	99641328	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:99641328G>A	uc001yga.2	-	4	2112	c.1845C>T	c.(1843-1845)GCC>GCT	p.A615A	BCL11B_uc001ygb.2_Silent_p.A544A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	615	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCTGCTTGTCGGCCAGGAGCT	0.428			T	TLX3	T-ALL							
CYP46A1	10858	broad.mit.edu	37	14	100191749	100191749	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:100191749C>T	uc001ygo.2	+	13	1198	c.1198C>T	c.(1198-1200)CGG>TGG	p.R400W	CYP46A1_uc001ygp.2_Missense_Mutation_p.R237W	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	400					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGTCATGGGGCGGATGGACAC	0.602												
EML1	2009	broad.mit.edu	37	14	100377791	100377791	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:100377791G>A	uc001ygs.2	+	13	1441	c.1372G>A	c.(1372-1374)GCC>ACC	p.A458T	EML1_uc010tww.1_Missense_Mutation_p.A446T|EML1_uc001ygq.2_Missense_Mutation_p.A477T|EML1_uc001ygr.2_Missense_Mutation_p.A477T	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	458	WD 5.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTTCAGGGGGCCCATGAGGG	0.453												
PPP1R13B	23368	broad.mit.edu	37	14	104206305	104206305	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:104206305C>T	uc001yof.1	-	12	2731	c.2448G>A	c.(2446-2448)CCG>CCA	p.P816P	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P683P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	816	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTCCTCTGCCGGCTCGGCAG	0.602												
KIAA0284	283638	broad.mit.edu	37	14	105353081	105353081	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:105353081C>T	uc010axb.2	+	12	2729	c.2505C>T	c.(2503-2505)GGC>GGT	p.G835G	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.G765G|KIAA0284_uc001yps.2_Silent_p.G741G|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	835						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CACGGGATGGCGTCTATGTCA	0.642												
AHNAK2	113146	broad.mit.edu	37	14	105409804	105409804	+	Missense_Mutation	SNP	G	G	A	rs146136367	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:105409804G>A	uc010axc.1	-	7	12104	c.11984C>T	c.(11983-11985)GCG>GTG	p.A3995V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3895V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						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)			CACCTTTGGCGCGGTCACATC	0.612												
SPTBN5	51332	broad.mit.edu	37	15	42180139	42180139	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:42180139T>C	uc001zos.2	-	5	874	c.541A>G	c.(541-543)ATC>GTC	p.I181V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	216	Actin-binding.|CH 2.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGGCATGGATGAGGGCATTG	0.602												
FRMD5	84978	broad.mit.edu	37	15	44175999	44175999	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:44175999A>G	uc001ztl.2	-	13	1214	c.1037T>C	c.(1036-1038)ATG>ACG	p.M346T	FRMD5_uc001ztj.1_Missense_Mutation_p.M19T|FRMD5_uc001ztk.1_Missense_Mutation_p.M252T|FRMD5_uc010uef.1_Missense_Mutation_p.M19T|FRMD5_uc001ztm.2_Missense_Mutation_p.M19T|FRMD5_uc001ztn.2_Missense_Mutation_p.M112T	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	346						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GCTGGGAACCATCCCTGCTCT	0.507												
FBN1	2200	broad.mit.edu	37	15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:48703398C>T	uc001zwx.1	-	66	8733	c.8405G>A	c.(8404-8406)GGC>GAC	p.G2802D	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2802					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTAAAGAAGCCATCTTCATT	0.423												
SHC4	399694	broad.mit.edu	37	15	49254719	49254719	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:49254719A>C	uc001zxb.1	-	1	923	c.494T>G	c.(493-495)CTT>CGT	p.L165R		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	165	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AGGGCCAGGAAGCGGGCACGA	0.597												
MYO5A	4644	broad.mit.edu	37	15	52668649	52668649	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:52668649C>T	uc002aby.2	-	19	2559	c.2315G>A	c.(2314-2316)CGG>CAG	p.R772Q	MYO5A_uc002abx.3_Missense_Mutation_p.R772Q|MYO5A_uc010uge.1_Missense_Mutation_p.R641Q	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	772	IQ 1.				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)		CTTCTGGATCCGGATGCAGGC	0.522												
ZNF280D	54816	broad.mit.edu	37	15	56968927	56968927	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:56968927A>C	uc002adu.2	-	13	1568	c.1351T>G	c.(1351-1353)TTT>GTT	p.F451V	ZNF280D_uc002adv.2_Missense_Mutation_p.F438V|ZNF280D_uc010bfq.2_Missense_Mutation_p.F451V|ZNF280D_uc002adw.1_Missense_Mutation_p.F479V|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	451	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGAGGCAAAACGGGCATAGC	0.299												
TLN2	83660	broad.mit.edu	37	15	63029211	63029211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:63029211G>A	uc002alb.3	+	26	3493	c.3493G>A	c.(3493-3495)GCC>ACC	p.A1165T		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1165	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GGAGGGCTCCGCCATGCTCAT	0.597												
SPG21	51324	broad.mit.edu	37	15	65273318	65273318	+	Missense_Mutation	SNP	C	C	T	rs142452716		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:65273318C>T	uc002aod.2	-	3	202	c.109G>A	c.(109-111)GCG>ACG	p.A37T	SPG21_uc002aoe.2_Missense_Mutation_p.A37T|SPG21_uc010bhb.2_Missense_Mutation_p.A37T|SPG21_uc010bhc.2_5'UTR	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	37					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0						CGGGGGCCCGCGTCATAGAGC	0.453												
MEGF11	84465	broad.mit.edu	37	15	66262946	66262946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:66262946G>A	uc002apm.2	-	8	985	c.844C>T	c.(844-846)CAG>TAG	p.Q282*	MEGF11_uc002apl.2_Nonsense_Mutation_p.Q207*|MEGF11_uc002apn.1_Nonsense_Mutation_p.Q282*	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	282	EGF-like 5.					basolateral plasma membrane|integral to membrane				pancreas(1)	1						TGGTCACACTGCCCTCCATGG	0.527												
LCTL	197021	broad.mit.edu	37	15	66850103	66850103	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:66850103G>T	uc002aqc.2	-	8	1011	c.879C>A	c.(877-879)CCC>CCA	p.P293P	LCTL_uc002aqd.3_Silent_p.P120P|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	293	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						CGGCATAAATGGGGTTGGCAA	0.507												
HCN4	10021	broad.mit.edu	37	15	73622033	73622033	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:73622033C>T	uc002avp.2	-	4	2465	c.1471G>A	c.(1471-1473)GAC>AAC	p.D491N		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	491	Extracellular (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		AGCCAGACGTCGGACATGCCC	0.632												
SCAMP2	10066	broad.mit.edu	37	15	75141038	75141038	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:75141038C>T	uc002azb.1	-	7	711	c.637G>A	c.(637-639)GAC>AAC	p.D213N	SCAMP2_uc002aza.1_Missense_Mutation_p.D63N|SCAMP2_uc010bkg.1_Intron	NM_005697	NP_005688	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	213	Cytoplasmic (Potential).|Interaction with SLC9A7.				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						AAAGAGTTGTCGGACCTGTGG	0.493												
PSMA4	5685	broad.mit.edu	37	15	78837238	78837238	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:78837238A>G	uc002bdu.3	+	6	473	c.315A>G	c.(313-315)ATA>ATG	p.I105M	PSMA4_uc010blf.2_Missense_Mutation_p.I105M|PSMA4_uc002bdv.3_Missense_Mutation_p.I34M|PSMA4_uc002bdw.3_Missense_Mutation_p.I81M|PSMA4_uc002bdx.3_Missense_Mutation_p.I34M	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	105					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|interspecies interaction between organisms|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|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0						AGGAGCCAATACCTTGTGAGC	0.328												
CHRNA3	1136	broad.mit.edu	37	15	78888987	78888987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:78888987C>A	uc002bec.2	-	6	1663	c.1477G>T	c.(1477-1479)GGA>TGA	p.G493*	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Intron|CHRNA3_uc010blg.1_RNA	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	493	Helical; (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						AGAAACAATCCTGCTGTCCCT	0.488												
MEX3B	84206	broad.mit.edu	37	15	82336301	82336301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:82336301C>T	uc002bgq.1	-	2	1225	c.910G>A	c.(910-912)GGG>AGG	p.G304R		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	304					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CTGCTGGTCCCGCCGCCGAAA	0.632												
AKAP13	11214	broad.mit.edu	37	15	86124026	86124026	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:86124026T>C	uc002blv.1	+	7	2897	c.2727T>C	c.(2725-2727)ACT>ACC	p.T909T	AKAP13_uc002blt.1_Silent_p.T909T|AKAP13_uc002blu.1_Silent_p.T909T|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	909					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						CAGTTTTGACTGAAGAAGGAA	0.458												
RLBP1	6017	broad.mit.edu	37	15	89758344	89758344	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:89758344C>T	uc002bnl.2	-	6	852	c.472G>A	c.(472-474)GTC>ATC	p.V158I		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	158	CRAL-TRIO.				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)	AAGAGCATGACCACTCGGCCA	0.572												
C15orf42	90381	broad.mit.edu	37	15	90118931	90118931	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:90118931C>T	uc002boe.2	+	1	114	c.114C>T	c.(112-114)TTC>TTT	p.F38F		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	38					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTTGCCGATTCGGCCTGGCCA	0.498												
MAN2A2	4122	broad.mit.edu	37	15	91452612	91452612	+	Missense_Mutation	SNP	G	G	A	rs145039941		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:91452612G>A	uc010bnz.2	+	9	1367	c.1252G>A	c.(1252-1254)GTC>ATC	p.V418I	MAN2A2_uc010boa.2_Missense_Mutation_p.V460I|MAN2A2_uc002bqc.2_Missense_Mutation_p.V418I|MAN2A2_uc010uql.1_Missense_Mutation_p.V122I|MAN2A2_uc010uqm.1_Silent_p.T64T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	418	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCGAAGCAACGTCCTCCTGGT	0.542												
SV2B	9899	broad.mit.edu	37	15	91769857	91769857	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:91769857G>A	uc002bqv.2	+	1	755	c.364G>A	c.(364-366)GAT>AAT	p.D122N	SV2B_uc002bqt.2_Missense_Mutation_p.D122N|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	122	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTGATGGCCGATGGGGTGGA	0.532												
RHBDF1	64285	broad.mit.edu	37	16	114974	114974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:114974G>A	uc002cfl.3	-	5	188	c.40C>T	c.(40-42)CGC>TGC	p.R14C	RHBDF1_uc010uty.1_Missense_Mutation_p.R14C|RHBDF1_uc010utz.1_Missense_Mutation_p.R14C|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	14	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGCTTCTTGCGCTGCAGGCTG	0.617												
MSLN	10232	broad.mit.edu	37	16	815589	815589	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:815589G>C	uc002cjw.1	+	9	818	c.767G>C	c.(766-768)GGC>GCC	p.G256A	MSLN_uc002cjt.1_Missense_Mutation_p.G256A|MSLN_uc002cju.1_Missense_Mutation_p.G256A|MSLN_uc010brd.1_Missense_Mutation_p.G255A|MSLN_uc002cjv.1_Missense_Mutation_p.G256A|MSLN_uc002cjx.1_Missense_Mutation_p.G256A|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	256					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				CCCGTGCTGGGCCAGCCCATC	0.701												
PKD1	5310	broad.mit.edu	37	16	2139989	2139989	+	Silent	SNP	G	G	A	rs141412586		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:2139989G>A	uc002cos.1	-	46	12860	c.12651C>T	c.(12649-12651)GCC>GCT	p.A4217A	PKD1_uc002cot.1_Silent_p.A4216A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4217	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCTCGAACACGGCTTGGAGGC	0.672												
CREBBP	1387	broad.mit.edu	37	16	3778452	3778452	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:3778452T>A	uc002cvv.2	-	31	6800	c.6596A>T	c.(6595-6597)CAG>CTG	p.Q2199L	CREBBP_uc002cvw.2_Missense_Mutation_p.Q2161L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2199	Poly-Gln.				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)		ctgctgctgctgcagcagctg	0.418			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
MKL2	57496	broad.mit.edu	37	16	14355230	14355230	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:14355230A>G	uc010uza.1	+	17	3384	c.3229A>G	c.(3229-3231)AGC>GGC	p.S1077G	MKL2_uc002dcg.2_Missense_Mutation_p.S1027G|MKL2_uc002dcj.2_Missense_Mutation_p.S322G	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	1066					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						CACTCCTCTCAGCACCACCGC	0.517												
TMC5	79838	broad.mit.edu	37	16	19451390	19451390	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:19451390T>C	uc002dgc.3	+	3	779	c.30T>C	c.(28-30)TCT>TCC	p.S10S	TMC5_uc010vaq.1_Silent_p.S10S|TMC5_uc002dgb.3_Silent_p.S10S|TMC5_uc010var.1_Silent_p.S10S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	10	Extracellular (Potential).					integral to membrane				skin(1)	1						ATAACTGGTCTGAGGAAGACC	0.458												
DNAH3	55567	broad.mit.edu	37	16	20976519	20976519	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:20976519C>T	uc010vbe.1	-	53	8687	c.8687G>A	c.(8686-8688)CGC>CAC	p.R2896H	DNAH3_uc010vbd.1_Missense_Mutation_p.R331H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2896	Stalk (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)		CTTGGCCACGCGATCGTACAC	0.567												
ZP2	7783	broad.mit.edu	37	16	21210127	21210127	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:21210127G>T	uc002dii.2	-	17	1984	c.1984C>A	c.(1984-1986)CTG>ATG	p.L662M	ZP2_uc010bwn.1_Missense_Mutation_p.L692M	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	662	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TCTGACAACAGGAGAATGGGT	0.488												
HS3ST2	9956	broad.mit.edu	37	16	22926525	22926525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:22926525G>A	uc002dli.2	+	2	818	c.746G>A	c.(745-747)CGC>CAC	p.R249H	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	249	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)		AACGCCATCCGCATCGGCATG	0.617												
USP31	57478	broad.mit.edu	37	16	23091458	23091458	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:23091458A>T	uc002dll.2	-	13	1985	c.1985T>A	c.(1984-1986)GTC>GAC	p.V662D	USP31_uc010bxm.2_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	662					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GGGGAATTTGACCATGTTCTG	0.498												
AQP8	343	broad.mit.edu	37	16	25228664	25228664	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:25228664G>T	uc002doc.2	+	2	240	c.158G>T	c.(157-159)TGC>TTC	p.C53F		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	53	Helical; (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)		TTCATCGGGTGCCTGTCGGTC	0.627												
TUFM	7284	broad.mit.edu	37	16	28855345	28855345	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:28855345G>A	uc002drh.2	-	8	1139	c.1000C>T	c.(1000-1002)CGG>TGG	p.R334W	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	331						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						AAGTCCTCCCGCTTCAAGCCT	0.637												
SEPHS2	22928	broad.mit.edu	37	16	30455823	30455823	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30455823T>C	uc010ves.1	-	2	1402	c.1226A>G	c.(1225-1227)AAG>AGG	p.K409R	SEPHS2_uc002dyh.1_Missense_Mutation_p.K352R|SEPHS2_uc010vet.1_Missense_Mutation_p.K291R	NM_012248	NP_036380	Q99611	SPS2_HUMAN	selenophosphate synthetase 2	409					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(2)	2						TCGGTTTCCCTTTTCCACAAT	0.527												
ITGAL	3683	broad.mit.edu	37	16	30521775	30521775	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30521775T>G	uc002dyi.3	+	22	2778	c.2602T>G	c.(2602-2604)TTC>GTC	p.F868V	ITGAL_uc002dyj.3_Missense_Mutation_p.F784V|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	868	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CTCTCCCATCTTCAAAGCAGG	0.587												
PRR14	78994	broad.mit.edu	37	16	30666359	30666359	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30666359A>G	uc002dyy.2	+	8	1326	c.1068A>G	c.(1066-1068)CGA>CGG	p.R356R	PRR14_uc002dyz.2_Silent_p.R201R|PRR14_uc002dza.2_Silent_p.R356R|PRR14_uc002dzb.1_Silent_p.R170R	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	356	Pro-rich.										0			Colorectal(24;0.103)			AACCAAGCCGACCACGGCCGC	0.697												
PRR14	78994	broad.mit.edu	37	16	30666362	30666362	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30666362A>G	uc002dyy.2	+	8	1329	c.1071A>G	c.(1069-1071)CCA>CCG	p.P357P	PRR14_uc002dyz.2_Silent_p.P202P|PRR14_uc002dza.2_Silent_p.P357P|PRR14_uc002dzb.1_Silent_p.P171P	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	357	Pro-rich.										0			Colorectal(24;0.103)			CAAGCCGACCACGGCCGCGGC	0.697												
PRR14	78994	broad.mit.edu	37	16	30666716	30666716	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:30666716A>G	uc002dyy.2	+	9	1547	c.1289A>G	c.(1288-1290)CAG>CGG	p.Q430R	PRR14_uc002dyz.2_Missense_Mutation_p.Q275R|PRR14_uc002dza.2_Missense_Mutation_p.Q430R	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	430											0			Colorectal(24;0.103)			TCAAAGGACCAGGTGCTTTCA	0.537												
C16orf78	123970	broad.mit.edu	37	16	49412460	49412460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:49412460G>A	uc002efr.2	+	3	393	c.350G>A	c.(349-351)AGC>AAC	p.S117N		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	117										central_nervous_system(1)	1						AAACACCTCAGCATGGTCCCT	0.552												
GPR114	221188	broad.mit.edu	37	16	57598979	57598979	+	Missense_Mutation	SNP	G	G	A	rs143828233		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:57598979G>A	uc002elx.3	+	6	548	c.463G>A	c.(463-465)GTC>ATC	p.V155I	GPR114_uc010vhr.1_Missense_Mutation_p.V155I|GPR114_uc002ely.2_Missense_Mutation_p.V155I	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	155	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						GAATAACTACGTCCTGGGGGC	0.577												
GPR56	9289	broad.mit.edu	37	16	57693479	57693479	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:57693479C>A	uc002emb.2	+	12	1751	c.1459C>A	c.(1459-1461)CTC>ATC	p.L487I	GPR56_uc002elz.1_Missense_Mutation_p.L317I|GPR56_uc002ema.1_Missense_Mutation_p.L312I|GPR56_uc002emc.2_Missense_Mutation_p.L481I|GPR56_uc002emf.2_Missense_Mutation_p.L481I|GPR56_uc010vhs.1_Missense_Mutation_p.L487I|GPR56_uc002emd.2_Missense_Mutation_p.L481I|GPR56_uc002eme.2_Missense_Mutation_p.L481I|GPR56_uc010vht.1_Missense_Mutation_p.L486I|GPR56_uc002emg.3_Missense_Mutation_p.L481I|GPR56_uc010vhu.1_Missense_Mutation_p.L306I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	487	Helical; Name=3; (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CTTCTCCCTGCTCACCTGCCT	0.617												
CNOT1	23019	broad.mit.edu	37	16	58576171	58576171	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:58576171A>G	uc002env.2	-	33	4937	c.4644T>C	c.(4642-4644)TAT>TAC	p.Y1548Y	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.Y1543Y|CNOT1_uc010vik.1_Silent_p.Y505Y	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1548					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTCAGCTTGATATGTTAAAA	0.408												
CNOT1	23019	broad.mit.edu	37	16	58612691	58612691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:58612691C>T	uc002env.2	-	13	1789	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R499H|CNOT1_uc002enx.2_Missense_Mutation_p.R499H|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	499					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGTTCATGGCGCAAGGTATG	0.438												
CDH11	1009	broad.mit.edu	37	16	65006930	65006930	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:65006930G>C	uc002eoi.2	-	9	1701	c.1267C>G	c.(1267-1269)CGT>GGT	p.R423G	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.R423G|CDH11_uc010vin.1_Missense_Mutation_p.R297G	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	423	Cadherin 4.|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)		TCAGTGTGACGATCGATGGAA	0.368			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
PDP2	57546	broad.mit.edu	37	16	66919107	66919107	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:66919107G>A	uc002eqk.1	+	2	1082	c.920G>A	c.(919-921)CGT>CAT	p.R307H		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	307					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCCCTTACACGTGACCACAAT	0.567												
HSF4	3299	broad.mit.edu	37	16	67200243	67200243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:67200243G>A	uc002erl.1	+	7	1471	c.506G>A	c.(505-507)CGG>CAG	p.R169Q	HSF4_uc002erm.1_Missense_Mutation_p.R169Q|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	169	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ATCTTGTGGCGGGAGGTGGTG	0.632												
EXOC3L	283849	broad.mit.edu	37	16	67219046	67219046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:67219046G>A	uc002erx.1	-	11	1983	c.1742C>T	c.(1741-1743)ACG>ATG	p.T581M	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Missense_Mutation_p.T232M|EXOC3L_uc002ery.1_Missense_Mutation_p.T483M|EXOC3L_uc010vje.1_Missense_Mutation_p.T478M	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	581					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CACCTGAACCGTGGGGTTCCG	0.677												
CENPT	80152	broad.mit.edu	37	16	67862748	67862748	+	Splice_Site	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:67862748T>G	uc002eun.3	-	14	1830	c.1281_splice	c.e14-1	p.V427_splice	CENPT_uc002eum.3_Splice_Site_p.V372_splice|CENPT_uc010vkc.1_Splice_Site_p.V185_splice|CENPT_uc010vkd.1_Splice_Site_p.V180_splice	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T						mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAAGATAAGCTGAGGGCAACA	0.622												
COG8	84342	broad.mit.edu	37	16	69369001	69369001	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69369001C>T	uc002ewy.2	-	3	907	c.836G>A	c.(835-837)CGT>CAT	p.R279H	COG8_uc002ewz.3_Missense_Mutation_p.R279H	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	279					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GAGATGGACACGGGAGGCCTC	0.517												
NFAT5	10725	broad.mit.edu	37	16	69660352	69660352	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69660352T>C	uc002exm.1	+	2	1328	c.120T>C	c.(118-120)TCT>TCC	p.S40S	NFAT5_uc002exh.1_5'UTR|NFAT5_uc002exi.2_5'UTR|NFAT5_uc002exj.1_5'UTR|NFAT5_uc002exk.1_5'UTR|NFAT5_uc002exl.1_Silent_p.S58S|NFAT5_uc002exn.1_Silent_p.S58S	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	40					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TACCTCCATCTAGAGAAACAT	0.443												
WWP2	11060	broad.mit.edu	37	16	69942710	69942710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69942710C>T	uc002exu.1	+	10	1050	c.961C>T	c.(961-963)CAC>TAC	p.H321Y	WWP2_uc002ext.2_Missense_Mutation_p.H321Y|WWP2_uc002exv.1_Missense_Mutation_p.H321Y|WWP2_uc010vlm.1_Missense_Mutation_p.H205Y	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	321	WW 1.				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						TTATGTTGACCACAATACCAA	0.522												
CLEC18A	348174	broad.mit.edu	37	16	69988310	69988310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:69988310C>T	uc010vlo.1	+	4	410	c.290C>T	c.(289-291)GCG>GTG	p.A97V	CLEC18C_uc002exy.2_Missense_Mutation_p.A97V|CLEC18A_uc002exz.2_Missense_Mutation_p.A97V|CLEC18A_uc002eya.2_Missense_Mutation_p.A97V|CLEC18A_uc010vlp.1_Missense_Mutation_p.A97V	NM_001136214	NP_001129686	A5D8T8	CL18A_HUMAN	secretory protein LOC348174 precursor	97	SCP.					extracellular region	sugar binding				0						CCGAGCCTGGCGTCCGGCCTG	0.637												
MARVELD3	91862	broad.mit.edu	37	16	71668202	71668202	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:71668202C>T	uc002fat.2	+	3	765	c.702C>T	c.(700-702)GGC>GGT	p.G234G	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	234	MARVEL.|Helical; (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				GCTTGGGGGGCATTTACTACT	0.557												
ZFHX3	463	broad.mit.edu	37	16	72827613	72827613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:72827613C>T	uc002fck.2	-	9	9641	c.8968G>A	c.(8968-8970)GTT>ATT	p.V2990I	ZFHX3_uc002fcl.2_Missense_Mutation_p.V2076I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2990	Homeobox 4.				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)				CAGACCTGAACGACTCTCTTT	0.473												
GLG1	2734	broad.mit.edu	37	16	74525092	74525092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:74525092C>T	uc002fcy.3	-	8	1306	c.1256G>A	c.(1255-1257)TGC>TAC	p.C419Y	GLG1_uc002fcx.2_Missense_Mutation_p.C419Y|GLG1_uc002fcw.3_Missense_Mutation_p.C408Y|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	419	Extracellular (Potential).|Cys-rich GLG1 6.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						CTCCCCCTGGCACTCACTGCT	0.458												
ADAMTS18	170692	broad.mit.edu	37	16	77317937	77317937	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:77317937C>A	uc002ffc.3	-	23	4001	c.3582G>T	c.(3580-3582)TGG>TGT	p.W1194C		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1194	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTAGGTGACACCAGTTGAAGA	0.388												
PKD1L2	114780	broad.mit.edu	37	16	81145850	81145850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:81145850G>A	uc002fgh.1	-	42	6902	c.6902C>T	c.(6901-6903)ACG>ATG	p.T2301M	PKD1L2_uc002fgf.1_Missense_Mutation_p.T101M|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2301	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TAGGGCTGCCGTGATCATGTT	0.532												
PKD1L2	114780	broad.mit.edu	37	16	81161488	81161488	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:81161488A>C	uc002fgh.1	-	37	6227	c.6227T>G	c.(6226-6228)CTC>CGC	p.L2076R	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2076	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCCATTACTGAGGGTGGTGGC	0.587												
PLCG2	5336	broad.mit.edu	37	16	81969978	81969978	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:81969978C>T	uc002fgt.2	+	27	3199	c.3047C>T	c.(3046-3048)ACG>ATG	p.T1016M		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	1016	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AATTTCCAGACGGCAGGTAAA	0.577												
MYO1C	4641	broad.mit.edu	37	17	1386933	1386933	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:1386933G>A	uc002fsp.2	-	3	538	c.318C>T	c.(316-318)GGC>GGT	p.G106G	MYO1C_uc002fsn.2_Silent_p.G87G|MYO1C_uc002fso.2_Silent_p.G71G|MYO1C_uc010vqj.1_Silent_p.G71G|MYO1C_uc010vqk.1_Silent_p.G82G	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	106	Myosin head-like.				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)		AGAAGCTGACGCCACGGTAAC	0.627												
SCARF1	8578	broad.mit.edu	37	17	1548908	1548908	+	Silent	SNP	G	G	A	rs143791504	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:1548908G>A	uc002fsz.1	-	1	134	c.84C>T	c.(82-84)CAC>CAT	p.H28H	SCARF1_uc002fsy.1_Silent_p.H28H|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.H28H	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	28	Extracellular (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACACAGACGTGCTGCCCTT	0.677												
TSR1	55720	broad.mit.edu	37	17	2234242	2234242	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:2234242T>C	uc002fuj.2	-	9	2615	c.1658A>G	c.(1657-1659)GAG>GGG	p.E553G	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	553					ribosome assembly	nucleolus	protein binding			ovary(1)	1						GATAGATACCTCAGCTCCTTC	0.378												
OR1D4	8385	broad.mit.edu	37	17	2966348	2966348	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:2966348A>C	uc010vra.1	-	1	608	c.608T>G	c.(607-609)CTG>CGG	p.L203R		NM_003552	NP_003543			olfactory receptor, family 1, subfamily D,												0						TGCCAGCCACAGCAGGATGTA	0.532												
BCL6B	255877	broad.mit.edu	37	17	6930865	6930865	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:6930865G>A	uc002geg.2	+	9	1424	c.1367G>A	c.(1366-1368)CGG>CAG	p.R456Q	BCL6B_uc010clt.1_Missense_Mutation_p.R457Q	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	456	C2H2-type 5.					nucleus	zinc ion binding			skin(1)	1						AGTCAACTGCGGCTGCATCTG	0.607												
PHF23	79142	broad.mit.edu	37	17	7140781	7140781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7140781G>A	uc002gfa.2	-	3	309	c.82C>T	c.(82-84)CGG>TGG	p.R28W	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.R28W|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	28							zinc ion binding				0						ATTGTTCTCCGCCGTTTCTCT	0.448												
C17orf74	201243	broad.mit.edu	37	17	7329699	7329699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7329699G>A	uc002ggw.2	+	3	462	c.389G>A	c.(388-390)CGC>CAC	p.R130H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	130	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				cgccgccgccgccaccgccgt	0.418												
TMEM102	284114	broad.mit.edu	37	17	7339811	7339811	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7339811T>C	uc002ggx.1	+	3	786	c.513T>C	c.(511-513)CGT>CGC	p.R171R	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.R171R	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	171	Extracellular (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				CAGGAGCACGTGATTCGATCC	0.592												
KDM6B	23135	broad.mit.edu	37	17	7756403	7756403	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7756403C>A	uc002giw.1	+	21	5072	c.4696C>A	c.(4696-4698)CGT>AGT	p.R1566S	KDM6B_uc002gix.2_Missense_Mutation_p.R868S|TMEM88_uc002giy.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1566					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						TTACCAGGGCCGTGTCAAGGA	0.637												
CHD3	1107	broad.mit.edu	37	17	7813796	7813796	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7813796C>T	uc002gje.2	+	38	5791	c.5641C>T	c.(5641-5643)CGC>TGC	p.R1881C	CHD3_uc002gjd.2_Missense_Mutation_p.R1940C|CHD3_uc002gjf.2_Missense_Mutation_p.R1847C|CHD3_uc002gjh.2_Missense_Mutation_p.R458C|CHD3_uc002gjj.2_Missense_Mutation_p.R44C	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1881	Required for interaction with PCNT.				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)				GGACGTGACCCGCCTGCCAGC	0.567												
GUCY2D	3000	broad.mit.edu	37	17	7915595	7915595	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:7915595A>G	uc002gjt.2	+	9	1957	c.1883A>G	c.(1882-1884)CAG>CGG	p.Q628R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	628	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGCTCTCTTCAGGACCTCCTC	0.612												
PER1	5187	broad.mit.edu	37	17	8047100	8047100	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:8047100C>T	uc002gkd.2	-	19	2794	c.2556G>A	c.(2554-2556)GCG>GCA	p.A852A	PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	852	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						CATAGCAGGGCGCTTCAGCCC	0.697			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes				
ARHGEF15	22899	broad.mit.edu	37	17	8221918	8221918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:8221918C>T	uc002glc.2	+	11	1931	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	ARHGEF15_uc002gld.2_Missense_Mutation_p.R604C|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R493C	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	604					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TGAGGTGGGGCGCATGAAGCA	0.617												
DNAH9	1770	broad.mit.edu	37	17	11650994	11650994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:11650994G>A	uc002gne.2	+	32	6589	c.6521G>A	c.(6520-6522)CGC>CAC	p.R2174H	DNAH9_uc010coo.2_Missense_Mutation_p.R1468H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2174	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGAAACGGCGCCCCGTCTGG	0.542												
TRIM16	10626	broad.mit.edu	37	17	15534998	15534998	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:15534998G>A	uc002gox.2	-	8	1603	c.1046C>T	c.(1045-1047)GCC>GTC	p.A349V	TRIM16_uc002gor.1_Missense_Mutation_p.A349V|TRIM16_uc002gow.2_Missense_Mutation_p.A133V|TRIM16_uc002goy.2_Missense_Mutation_p.A219V	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	349					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTGAACAACGGCAGACACTTG	0.483												
SMCR7	125170	broad.mit.edu	37	17	18166044	18166044	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:18166044T>C	uc002gst.2	+	2	221	c.10T>C	c.(10-12)TTC>CTC	p.F4L	SMCR7_uc002gsu.2_Missense_Mutation_p.F4L|SMCR7_uc010vxq.1_Missense_Mutation_p.F15L	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	4						integral to membrane	protein binding				0	all_neural(463;0.228)					CATGGCAGAGTTCTCCCAGAA	0.672												
MAPK7	5598	broad.mit.edu	37	17	19286450	19286450	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:19286450G>A	uc002gvn.2	+	7	2743	c.2357G>A	c.(2356-2358)GGC>GAC	p.G786D	MAPK7_uc002gvo.2_Missense_Mutation_p.G647D|MAPK7_uc002gvq.2_Missense_Mutation_p.G786D|MAPK7_uc002gvp.2_Missense_Mutation_p.G786D|uc010vyt.1_5'Flank	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	786	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAAGGCCATGGCATGAACCCT	0.612												
KIAA0100	9703	broad.mit.edu	37	17	26958685	26958685	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:26958685G>A	uc002hbu.2	-	23	4210	c.4111C>T	c.(4111-4113)CGG>TGG	p.R1371W		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1371						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ATAAGGCGCCGCATCACTGTG	0.512												
SUPT6H	6830	broad.mit.edu	37	17	27000493	27000493	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27000493G>A	uc002hby.2	+	2	164	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	SUPT6H_uc010crt.2_Missense_Mutation_p.R25Q	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	25	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GTGGTACCCCGAGTCACCAAG	0.502												
C17orf63	55731	broad.mit.edu	37	17	27086626	27086626	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27086626G>A	uc002hct.1	-	3	618	c.351C>T	c.(349-351)GAC>GAT	p.D117D	C17orf63_uc010wax.1_Silent_p.D117D|C17orf63_uc010way.1_Silent_p.D117D|C17orf63_uc002hcw.2_Translation_Start_Site	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	117										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			CTCGGGTGCCGTCAAAGTCCT	0.627												
SSH2	85464	broad.mit.edu	37	17	27957928	27957928	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27957928G>A	uc002heo.1	-	15	4203	c.4203C>T	c.(4201-4203)CAC>CAT	p.H1401H	SSH2_uc010wbh.1_Silent_p.H1428H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1401					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCCTAAGGGGGTGAGTTCTGC	0.537												
NF1	4763	broad.mit.edu	37	17	29576057	29576057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:29576057G>T	uc002hgg.2	+	30	4363	c.4030G>T	c.(4030-4032)GAA>TAA	p.E1344*	NF1_uc002hgh.2_Nonsense_Mutation_p.E1344*|NF1_uc010csn.1_Nonsense_Mutation_p.E1204*|NF1_uc002hgi.1_Nonsense_Mutation_p.E377*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1344	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGATGACTGAAAAGTTCTT	0.398			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
MYO1D	4642	broad.mit.edu	37	17	30821885	30821885	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:30821885G>A	uc002hho.1	-	22	2925	c.2913C>T	c.(2911-2913)AGC>AGT	p.S971S		NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	971						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)			TCCCGTGCAGGCTGCACTGTA	0.597												
PSMD3	5709	broad.mit.edu	37	17	38151523	38151523	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:38151523G>A	uc002htn.1	+	8	1355	c.1191G>A	c.(1189-1191)CGG>CGA	p.R397R	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.R298R	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	397	PCI.				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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					TAATTATCCGGCTGCGGCACA	0.547												
KRT23	25984	broad.mit.edu	37	17	39092549	39092549	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:39092549G>A	uc002hvm.1	-	2	896	c.307C>T	c.(307-309)CGC>TGC	p.R103C	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.R103C|KRT23_uc002hvn.1_Missense_Mutation_p.R103C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	103	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				TTCAGGATGCGGCTTTCCAGC	0.542												
KRT23	25984	broad.mit.edu	37	17	39092832	39092832	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:39092832G>A	uc002hvm.1	-	2	613	c.24C>T	c.(22-24)AGC>AGT	p.S8S	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.S8S|KRT23_uc002hvn.1_Silent_p.S8S	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	8	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				AGGGGGTCTGGCTGAAGCTGT	0.701												
ATP6V0A1	535	broad.mit.edu	37	17	40652943	40652943	+	Splice_Site	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:40652943T>C	uc002hzr.2	+	16	2063	c.1896_splice	c.e16+2	p.Q632_splice	ATP6V0A1_uc002hzq.2_Splice_Site_p.Q632_splice|ATP6V0A1_uc002hzs.2_Splice_Site_p.Q639_splice|ATP6V0A1_uc010wgj.1_Splice_Site_p.Q589_splice|ATP6V0A1_uc010wgk.1_Splice_Site_p.Q589_splice|ATP6V0A1_uc010cyg.2_Splice_Site_p.Q278_splice|ATP6V0A1_uc010wgl.1_Splice_Site_p.Q491_splice	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCTGGACAGGTACGTCAGCCC	0.428												
TUBG1	7283	broad.mit.edu	37	17	40766300	40766300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:40766300C>T	uc002ian.2	+	9	1264	c.866C>T	c.(865-867)ACG>ATG	p.T289M		NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	289					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AGGAAGACCACGGTCCTGGAT	0.612												
ETV4	2118	broad.mit.edu	37	17	41606988	41606988	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:41606988G>A	uc002idw.2	-	11	1140	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	ETV4_uc002idv.2_Missense_Mutation_p.R61W|ETV4_uc010wih.1_Missense_Mutation_p.R284W|ETV4_uc010czh.2_Missense_Mutation_p.R337W|ETV4_uc010wii.1_Missense_Mutation_p.R299W|ETV4_uc002idx.2_Missense_Mutation_p.R338W|ETV4_uc010wij.1_Missense_Mutation_p.R299W	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	338					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		AGGGCACCCCGGCGCTGGTAG	0.582			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma							
MEOX1	4222	broad.mit.edu	37	17	41719304	41719304	+	Missense_Mutation	SNP	A	A	G	rs78282512		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:41719304A>G	uc002idz.2	-	3	768	c.739T>C	c.(739-741)TCC>CCC	p.S247P	MEOX1_uc002iea.2_3'UTR|MEOX1_uc002ieb.2_Missense_Mutation_p.S132P	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	247						nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GAGGCTGTGGAGTCCCCATCC	0.562												
NAGS	162417	broad.mit.edu	37	17	42082082	42082082	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:42082082G>A	uc002ies.2	+	1	51	c.51G>A	c.(49-51)CCG>CCA	p.P17P	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Silent_p.P17P|NAGS_uc002iet.2_5'Flank	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	17					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity				0		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CTGTAGCCCCGAGGCTGAGAG	0.512												
GPATCH8	23131	broad.mit.edu	37	17	42478563	42478563	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:42478563T>C	uc002igw.1	-	8	946	c.882A>G	c.(880-882)CCA>CCG	p.P294P	GPATCH8_uc002igv.1_Silent_p.P216P|GPATCH8_uc010wiz.1_Silent_p.P216P	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	294						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTTTTGCAATGGGGTCCCCA	0.473												
KIAA1267	284058	broad.mit.edu	37	17	44172020	44172020	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:44172020A>G	uc002ikb.2	-	2	1422	c.1337T>C	c.(1336-1338)GTC>GCC	p.V446A	KIAA1267_uc002ikc.2_Missense_Mutation_p.V446A|KIAA1267_uc002ikd.2_Missense_Mutation_p.V446A|KIAA1267_uc010dav.2_Missense_Mutation_p.V446A	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	446						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CCAGCGGCTGACAATAGCTGC	0.438												
WNT3	7473	broad.mit.edu	37	17	44847252	44847252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:44847252G>A	uc002ikv.2	-	3	604	c.485C>T	c.(484-486)GCT>GTT	p.A162V		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	162					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCGAAGTCAGCGTCCTCGCT	0.677												
RPRML	388394	broad.mit.edu	37	17	45056149	45056149	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:45056149C>T	uc002ilb.2	-	1	466	c.225G>A	c.(223-225)GTG>GTA	p.V75V	GOSR2_uc010wkh.1_Intron	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN	reprimo-like	75	Helical; (Potential).					integral to membrane					0						TAAGCGACAGCACGCAGAGCA	0.692												
KPNB1	3837	broad.mit.edu	37	17	45750473	45750473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:45750473C>T	uc002ilt.1	+	13	1973	c.1637C>T	c.(1636-1638)GCT>GTT	p.A546V	KPNB1_uc010wkw.1_Missense_Mutation_p.A401V|KPNB1_uc010wkx.1_Missense_Mutation_p.A330V	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	546					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TGTTATCCTGCTGTCCAGAAA	0.463												
HOXB1	3211	broad.mit.edu	37	17	46608028	46608028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:46608028G>A	uc002ink.1	-	1	245	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	80						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCCCGAGGGCGCGGAGCTGGG	0.662												
ANKRD40	91369	broad.mit.edu	37	17	48777241	48777241	+	Missense_Mutation	SNP	A	A	T	rs145395652		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:48777241A>T	uc002iso.2	-	3	552	c.297T>A	c.(295-297)GAT>GAA	p.D99E		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	99	Poly-Asp.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcatcTTCTTCTT	0.358												
CA10	56934	broad.mit.edu	37	17	49713241	49713241	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:49713241T>G	uc002itw.3	-	7	1750	c.764A>C	c.(763-765)AAA>ACA	p.K255T	CA10_uc002itu.3_Missense_Mutation_p.K184T|CA10_uc002itv.3_Missense_Mutation_p.K261T|CA10_uc002itx.3_Missense_Mutation_p.K255T|CA10_uc002ity.3_Missense_Mutation_p.K255T|CA10_uc002itz.2_Missense_Mutation_p.K255T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	255					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ATAGACAGGTTTGTTCATTAT	0.403												
MRPS23	51649	broad.mit.edu	37	17	55917278	55917278	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:55917278C>T	uc002ivc.2	-	5	467	c.439G>A	c.(439-441)GTT>ATT	p.V147I		NM_016070	NP_057154	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	147					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome				0	Breast(9;8.75e-08)					TTCCGGGAAACGTGACTACCT	0.423												
LPO	4025	broad.mit.edu	37	17	56324919	56324919	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:56324919G>A	uc002ivt.2	+	4	561	c.245G>A	c.(244-246)CGC>CAC	p.R82H	LPO_uc010dco.2_Missense_Mutation_p.R82H|LPO_uc010wnr.1_Intron|LPO_uc010wns.1_Missense_Mutation_p.R23H|LPO_uc010dcp.2_Intron|LPO_uc010dcq.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	82					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GGCCGGACGCGCACAGCCATC	0.567												
BZRAP1	9256	broad.mit.edu	37	17	56382464	56382464	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:56382464G>A	uc002ivx.3	-	30	6373	c.5502C>T	c.(5500-5502)GGC>GGT	p.G1834G	BZRAP1_uc002ivv.2_Silent_p.G64G|BZRAP1_uc002ivw.2_Silent_p.G66G|BZRAP1_uc010dcs.2_Silent_p.G1774G|BZRAP1_uc010wnt.1_Silent_p.G1825G	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1834						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCCAGGCCGCCTGCCTCAG	0.627												
RPS6KB1	6198	broad.mit.edu	37	17	58024111	58024111	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:58024111A>G	uc002ixy.2	+	15	1643	c.1540A>G	c.(1540-1542)ATC>GTC	p.I514V	RPS6KB1_uc010ddj.1_Intron|RPS6KB1_uc010wom.1_Missense_Mutation_p.I461V|RPS6KB1_uc010won.1_Missense_Mutation_p.I491V|RPS6KB1_uc010woo.1_Missense_Mutation_p.I449V|RPS6KB1_uc002ixz.2_RNA	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	514	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TTTTCCCATGATCTCCAAACG	0.468												
ACE	1636	broad.mit.edu	37	17	61557711	61557711	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:61557711G>A	uc002jau.1	+	5	691	c.669G>A	c.(667-669)ACG>ACA	p.T223T	ACE_uc010wpi.1_Silent_p.T223T|ACE_uc010ddu.1_Silent_p.T40T	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	223	Extracellular (Potential).|Peptidase M2 1.				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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	TCACAGACACGGGGGCCTACT	0.612												
ERN1	2081	broad.mit.edu	37	17	62131738	62131738	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:62131738C>T	uc002jdz.2	-	15	1938	c.1825G>A	c.(1825-1827)GCA>ACA	p.A609T		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	609	Cytoplasmic (Potential).|Protein kinase.				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						TCACGGTCTGCGAAGCTAAAA	0.577												
CACNG1	786	broad.mit.edu	37	17	65040929	65040929	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:65040929C>T	uc002jfu.2	+	1	224	c.153C>T	c.(151-153)TTC>TTT	p.F51F		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	51					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CGGCCCACTTCGGCCTCTGGC	0.657												
HELZ	9931	broad.mit.edu	37	17	65199438	65199438	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:65199438G>T	uc010wqk.1	-	6	556	c.369C>A	c.(367-369)TCC>TCA	p.S123S	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.S123S|HELZ_uc010des.1_Silent_p.S123S	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AACATACCAGGGACTCTCCTG	0.408												
PSMD12	5718	broad.mit.edu	37	17	65344745	65344745	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:65344745C>T	uc002jfy.2	-	5	517	c.431G>A	c.(430-432)CGA>CAA	p.R144Q	PSMD12_uc002jga.2_Missense_Mutation_p.R124Q|PSMD12_uc002jfz.2_Missense_Mutation_p.R85Q|PSMD12_uc010det.1_Missense_Mutation_p.R144Q	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	144					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				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TTTAGTCAGTCGCGCACGCTC	0.308												
ABCA6	23460	broad.mit.edu	37	17	67099024	67099024	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:67099024A>C	uc002jhw.1	-	21	3001	c.2826T>G	c.(2824-2826)ACT>ACG	p.T942T		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	942					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					AGAGGCCATCAGTACCATTTC	0.284												
ABCA10	10349	broad.mit.edu	37	17	67183901	67183901	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:67183901G>T	uc010dfa.1	-	20	3130	c.2251C>A	c.(2251-2253)CTC>ATC	p.L751I	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.L352I	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	751					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CGTCTCCAGAGAGCTGCACTA	0.403												
SDK2	54549	broad.mit.edu	37	17	71346827	71346827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:71346827C>T	uc010dfm.2	-	42	5861	c.5861G>A	c.(5860-5862)CGG>CAG	p.R1954Q	SDK2_uc002jjt.3_Missense_Mutation_p.R1094Q	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1954	Cytoplasmic (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCTCTGGCCCCGGATGATGAG	0.542												
TMEM104	54868	broad.mit.edu	37	17	72781738	72781738	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:72781738A>G	uc002jls.3	+	3	325	c.163A>G	c.(163-165)ATG>GTG	p.M55V	TMEM104_uc010wrf.1_Missense_Mutation_p.M55V|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.M55V	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	55	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					CCTGGGCTTCATGAGGTGAGA	0.647												
TMEM104	54868	broad.mit.edu	37	17	72832492	72832492	+	Missense_Mutation	SNP	G	G	A	rs146415645		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:72832492G>A	uc002jls.3	+	10	1319	c.1157G>A	c.(1156-1158)CGC>CAC	p.R386H	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.R386H	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	386	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)					CTCTTCCACCGCGAGGGCGGC	0.632												
GALR2	8811	broad.mit.edu	37	17	74072970	74072970	+	Missense_Mutation	SNP	G	G	A	rs142971884		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:74072970G>A	uc002jqm.1	+	2	703	c.622G>A	c.(622-624)GCG>ACG	p.A208T	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	208	Helical; Name=5; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCTGACCTACGCGCGCACCTT	0.697												
CCDC40	55036	broad.mit.edu	37	17	78059814	78059814	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:78059814G>T	uc010dht.2	+	14	2275	c.2248G>T	c.(2248-2250)GGG>TGG	p.G750W	CCDC40_uc002jxm.3_Missense_Mutation_p.G533W|CCDC40_uc002jxn.3_Missense_Mutation_p.G146W	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	750	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAAGAAGTGGGGCCCCTGGA	0.408												
SLC26A11	284129	broad.mit.edu	37	17	78210884	78210884	+	Silent	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:78210884C>A	uc002jyb.1	+	8	1163	c.894C>A	c.(892-894)TCC>TCA	p.S298S	SLC26A11_uc002jyc.1_Silent_p.S298S|SLC26A11_uc002jyd.1_Silent_p.S298S|SLC26A11_uc010dhv.1_Silent_p.S298S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	298	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGACGATCTCCTTCACCGAGA	0.647												
P4HB	5034	broad.mit.edu	37	17	79804412	79804412	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:79804412G>A	uc002kbn.1	-	7	1146	c.949C>T	c.(949-951)CTC>TTC	p.L317F	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	317					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGGGTGATGAGGCGCACGGCC	0.592												
FASN	2194	broad.mit.edu	37	17	80045689	80045689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:80045689G>A	uc002kdu.2	-	19	3032	c.2915C>T	c.(2914-2916)CCG>CTG	p.P972L	FASN_uc002kdw.1_Missense_Mutation_p.P188L	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	972					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGCTTTCCGGGTGGTCGAA	0.652												
SECTM1	6398	broad.mit.edu	37	17	80280150	80280150	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:80280150G>T	uc002keo.2	-	5	1032	c.634C>A	c.(634-636)CCA>ACA	p.P212T	SECTM1_uc002ken.2_Missense_Mutation_p.P210T|SECTM1_uc002kep.2_3'UTR	NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1 precursor	212	Cytoplasmic (Potential).				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TCGGAGTCTGGGGTCCACAGT	0.622												
TGIF1	7050	broad.mit.edu	37	18	3452168	3452168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:3452168C>T	uc002klz.2	+	1	578	c.191C>T	c.(190-192)CCG>CTG	p.P64L	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	64					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CCCCCAGCGCCGTGGTCCTCC	0.736												
RIOK3	8780	broad.mit.edu	37	18	21044006	21044006	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:21044006G>A	uc002kui.3	+	3	872	c.255G>A	c.(253-255)CAG>CAA	p.Q85Q	RIOK3_uc010dls.2_Silent_p.Q85Q|RIOK3_uc010xas.1_Silent_p.Q69Q|RIOK3_uc010xat.1_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	85					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGATGCTACAGATGGAATATG	0.353												
C18orf8	29919	broad.mit.edu	37	18	21095895	21095895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:21095895G>A	uc010xax.1	+	6	605	c.484G>A	c.(484-486)GAG>AAG	p.E162K	C18orf8_uc010xau.1_Missense_Mutation_p.E5K|C18orf8_uc010xav.1_Missense_Mutation_p.E114K|C18orf8_uc010xaw.1_Missense_Mutation_p.E5K|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	162										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACTGCCCCGAGAGCGCCGT	0.473											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DSC2	1824	broad.mit.edu	37	18	28654723	28654723	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:28654723C>T	uc002kwl.3	-	12	2268	c.1814G>A	c.(1813-1815)GGC>GAC	p.G605D	DSC2_uc002kwk.3_Missense_Mutation_p.G605D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	605	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAAGGGTGGGCCATGGATAGG	0.413												
ZNF397OS	100101467	broad.mit.edu	37	18	32844198	32844198	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:32844198T>G	uc002kym.2	-	2	347	c.119A>C	c.(118-120)AAC>ACC	p.N40T	ZNF397_uc010dmr.2_Intron|ZNF397OS_uc010xce.1_Missense_Mutation_p.N40T|ZNF397OS_uc002kyn.1_Missense_Mutation_p.N40T	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	40					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTCCAGGGGTTTTCCTGAAG	0.517												
SLC14A2	8170	broad.mit.edu	37	18	43204714	43204714	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:43204714A>G	uc010dnj.2	+	3	406	c.85A>G	c.(85-87)AGC>GGC	p.S29G	SLC14A2_uc002lbb.2_Missense_Mutation_p.S29G|SLC14A2_uc002lbe.2_Missense_Mutation_p.S29G	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	29						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						TACCAGCCCGAGCTGGCCCTC	0.572												
CXXC1	30827	broad.mit.edu	37	18	47810401	47810401	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:47810401C>T	uc002leq.3	-	10	2009	c.1276G>A	c.(1276-1278)GGC>AGC	p.G426S	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.G283S|CXXC1_uc002ler.3_Missense_Mutation_p.G430S|CXXC1_uc010doy.2_Missense_Mutation_p.G426S|CXXC1_uc002les.2_Missense_Mutation_p.G426S	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	426	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGCTTCTTGCCGTGCTCTTCA	0.577												
DCC	1630	broad.mit.edu	37	18	50832030	50832030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:50832030C>T	uc002lfe.1	+	13	2581	c.1994C>T	c.(1993-1995)ACG>ATG	p.T665M	DCC_uc010xdr.1_Missense_Mutation_p.T513M|DCC_uc010dpf.1_Missense_Mutation_p.T320M	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	665	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACAGAAAGACGACCCGCAGG	0.438												
ALPK2	115701	broad.mit.edu	37	18	56184321	56184321	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:56184321G>A	uc002lhj.3	-	9	5973	c.5759C>T	c.(5758-5760)ACG>ATG	p.T1920M		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1920	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CAGCTCCTCCGTGGCGATCTG	0.547												
PHLPP1	23239	broad.mit.edu	37	18	60645706	60645706	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:60645706C>T	uc002lis.2	+	18	2838	c.2660C>T	c.(2659-2661)GCC>GTC	p.A887V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1399	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						CTGGCTGCTGCCAAGAAGCTG	0.622												
PARD6G	84552	broad.mit.edu	37	18	77917987	77917987	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:77917987C>T	uc002lny.2	-	3	964	c.798G>A	c.(796-798)TCG>TCA	p.S266S	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	266					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		AGGGCGGTCCCGAGCTGCCCA	0.701												
POLRMT	5442	broad.mit.edu	37	19	618551	618551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:618551G>A	uc002lpf.1	-	17	3415	c.3359C>T	c.(3358-3360)CCG>CTG	p.P1120L		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1120	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAAGTTGGGCGGGAAGCCGTT	0.657												
ABCA7	10347	broad.mit.edu	37	19	1049320	1049320	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:1049320G>A	uc002lqw.3	+	18	2667	c.2436G>A	c.(2434-2436)CTG>CTA	p.L812L	ABCA7_uc010dsb.1_Silent_p.L674L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	812	ABC transporter 1.				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)		TTCGCAGCCTGGAGAAGCGCT	0.672												
CHAF1A	10036	broad.mit.edu	37	19	4433428	4433428	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:4433428C>T	uc002mal.2	+	13	2665	c.2565C>T	c.(2563-2565)AGC>AGT	p.S855S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	855	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGTGGCAGCGTCCCCTCCA	0.642								Chromatin_Structure				
SEMA6B	10501	broad.mit.edu	37	19	4550161	4550161	+	Silent	SNP	C	C	T	rs144907430		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:4550161C>T	uc010duc.1	-	11	1283	c.1245G>A	c.(1243-1245)GCG>GCA	p.A415A	SEMA6B_uc010dud.2_Silent_p.A415A|SEMA6B_uc010xih.1_Silent_p.A415A	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	415	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCCAGGGCGCATGGCCCA	0.627												
FBN3	84467	broad.mit.edu	37	19	8161800	8161800	+	Missense_Mutation	SNP	C	C	T	rs143230386	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:8161800C>T	uc002mjf.2	-	42	5399	c.5378G>A	c.(5377-5379)CGA>CAA	p.R1793Q		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1793	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TTTGTACCCTCGGGTGCACTT	0.607												
FBN3	84467	broad.mit.edu	37	19	8176580	8176580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:8176580G>A	uc002mjf.2	-	31	4057	c.4036C>T	c.(4036-4038)CGC>TGC	p.R1346C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1346	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CAGGTGCAGCGGTAGGAGCCA	0.652												
CDC37	11140	broad.mit.edu	37	19	10503977	10503977	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:10503977G>A	uc002mof.1	-	6	983	c.867C>T	c.(865-867)CCC>CCT	p.P289P	CDC37_uc002moe.1_Silent_p.P244P|CDC37_uc010dxf.1_Silent_p.P126P|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Silent_p.P289P	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	289					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCAGGCCGCCGGGGCCGAGCC	0.706												
SLC44A2	57153	broad.mit.edu	37	19	10738649	10738649	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:10738649G>A	uc002mpf.2	+	4	353	c.214G>A	c.(214-216)GAG>AAG	p.E72K	SLC44A2_uc002mpe.3_Missense_Mutation_p.E70K	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	72	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CAGCCGGGGCGAGTTCTGCGG	0.582												
KANK2	25959	broad.mit.edu	37	19	11303908	11303908	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:11303908G>A	uc010dxv.2	-	6	1406	c.848C>T	c.(847-849)GCT>GTT	p.A283V	KANK2_uc002mqm.2_Missense_Mutation_p.A283V|KANK2_uc002mqo.3_Missense_Mutation_p.A283V|KANK2_uc002mqp.1_Missense_Mutation_p.A92V|KANK2_uc002mqq.2_Missense_Mutation_p.A283V	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	283	Potential.										0						GGCGAGGGCAGCCTCCCCATC	0.692												
RGL3	57139	broad.mit.edu	37	19	11508131	11508131	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:11508131C>T	uc002mrp.2	-	17	1953	c.1889G>A	c.(1888-1890)CGA>CAA	p.R630Q	RGL3_uc002mrn.2_Missense_Mutation_p.R394Q|RGL3_uc002mrm.2_Missense_Mutation_p.R394Q|RGL3_uc002mro.2_Missense_Mutation_p.R636Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	630	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CAAGATGCTTCGATACAGGTT	0.677												
ZNF441	126068	broad.mit.edu	37	19	11891996	11891996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:11891996G>A	uc010dyj.2	+	4	1551	c.1357G>A	c.(1357-1359)GGA>AGA	p.G453R	ZNF441_uc002msn.3_Missense_Mutation_p.G409R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	453	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAAACAATGCGGAAAAGCCTT	0.383												
ZNF563	147837	broad.mit.edu	37	19	12430297	12430297	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:12430297C>T	uc002mtp.2	-	4	780	c.542G>A	c.(541-543)CGT>CAT	p.R181H	ZNF563_uc002mtq.2_Missense_Mutation_p.R181H	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	181	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGGTTTCTACGAGAACTGAA	0.423												
PRDX2	7001	broad.mit.edu	37	19	12911023	12911023	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:12911023G>A	uc002mvd.2	-	4	498	c.348C>T	c.(346-348)GGC>GGT	p.G116G		NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	116	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						TTTTCAGCACGCCGTAATCCT	0.617												
MAST1	22983	broad.mit.edu	37	19	12979551	12979551	+	Silent	SNP	G	G	A	rs142536814	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:12979551G>A	uc002mvm.2	+	21	2789	c.2661G>A	c.(2659-2661)GCG>GCA	p.A887A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	887					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						TGCGCCGGGCGCGGCACCAGC	0.597												
LPHN1	22859	broad.mit.edu	37	19	14270398	14270398	+	Splice_Site	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:14270398T>G	uc010xnn.1	-	11	2151	c.1855_splice	c.e11-1	p.A619_splice	LPHN1_uc010xno.1_Splice_Site_p.A614_splice|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CACCACGGCCTGCACAGGCAG	0.622												
MYO9B	4650	broad.mit.edu	37	19	17213299	17213299	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:17213299G>A	uc010eak.2	+	2	924	c.772G>A	c.(772-774)GCC>ACC	p.A258T	MYO9B_uc002nfi.2_Missense_Mutation_p.A258T|MYO9B_uc002nfj.1_Missense_Mutation_p.A258T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	258	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CTGCCTCACCGCCCTCAGCCA	0.652												
UNC13A	23025	broad.mit.edu	37	19	17783305	17783305	+	Splice_Site	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:17783305C>A	uc002nhd.2	-	5	417	c.417_splice	c.e5-1	p.F139_splice		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GTTAATCTCGCTGCAGAAAAA	0.398												
CCDC124	115098	broad.mit.edu	37	19	18047384	18047384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18047384G>A	uc010xpz.1	+	2	200	c.155G>A	c.(154-156)CGC>CAC	p.R52H	CCDC124_uc002nhs.2_Missense_Mutation_p.R52H	NM_001136203	NP_001129675	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	52	Potential.						DNA binding				0						AAGGAGCAGCGCAAGGTGCGT	0.612												
KIAA1683	80726	broad.mit.edu	37	19	18378125	18378125	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18378125C>T	uc002nin.2	-	3	441	c.225G>A	c.(223-225)GCG>GCA	p.A75A	KIAA1683_uc010ebn.2_Silent_p.A75A|KIAA1683_uc010xqe.1_Silent_p.A29A	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	75						mitochondrion				ovary(2)	2						CGCGGCGGGACGCCGTCTTGC	0.637												
KLHL26	55295	broad.mit.edu	37	19	18778576	18778576	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18778576C>T	uc002njz.1	+	3	396	c.369C>T	c.(367-369)AGC>AGT	p.S123S		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	123	BTB.									ovary(1)	1						TCGCCTACAGCGCCGAGGTGA	0.662												
KLHL26	55295	broad.mit.edu	37	19	18778628	18778628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:18778628G>A	uc002njz.1	+	3	448	c.421G>A	c.(421-423)GTG>ATG	p.V141M		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	141										ovary(1)	1						GGGCGCGGCCGTGTTCTTGCA	0.667												
HAPLN4	404037	broad.mit.edu	37	19	19371714	19371714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:19371714C>T	uc002nmb.2	-	3	447	c.392G>A	c.(391-393)CGC>CAC	p.R131H	HAPLN4_uc002nmc.2_Missense_Mutation_p.R131H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	131	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CGTGACGTTGCGGAGGACCAG	0.642												
ZNF99	7652	broad.mit.edu	37	19	22941044	22941044	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:22941044T>A	uc010xrh.1	-	5	1394	c.1394A>T	c.(1393-1395)AAG>ATG	p.K465M		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCAT	0.343												
ZNF536	9745	broad.mit.edu	37	19	30935211	30935211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:30935211G>A	uc002nsu.1	+	2	880	c.742G>A	c.(742-744)GTT>ATT	p.V248I	ZNF536_uc010edd.1_Missense_Mutation_p.V248I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	248					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)					TAACCACAGCGTTCCCGACGT	0.756												
CHST8	64377	broad.mit.edu	37	19	34263898	34263898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:34263898G>A	uc002nus.3	+	5	1710	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	CHST8_uc002nut.3_Missense_Mutation_p.R402H|CHST8_uc002nuu.2_Missense_Mutation_p.R402H	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	402	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CAAAGGCAGCGCACCTACGAC	0.622												
MAG	4099	broad.mit.edu	37	19	35800998	35800998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:35800998C>T	uc002nyy.1	+	8	1602	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C	MAG_uc002nyx.1_Missense_Mutation_p.R485C|MAG_uc010eds.1_Missense_Mutation_p.R460C|MAG_uc002nyz.1_Missense_Mutation_p.R485C	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	485	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCCCGCCCCGCGTCATCTG	0.697												
RBM42	79171	broad.mit.edu	37	19	36128361	36128361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36128361C>T	uc002oan.2	+	10	1424	c.1348C>T	c.(1348-1350)CGC>TGC	p.R450C	RBM42_uc010eef.2_Missense_Mutation_p.R396C|RBM42_uc002oao.2_Missense_Mutation_p.R428C|RBM42_uc002oap.2_Missense_Mutation_p.R420C|RBM42_uc002oaq.2_Missense_Mutation_p.R421C|RBM42_uc010eeg.2_Missense_Mutation_p.R356C	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	450	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGTGGGCTCGCGCCCCATCAA	0.617												
TMEM149	79713	broad.mit.edu	37	19	36232025	36232025	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36232025C>T	uc002obc.2	-	2	158	c.57G>A	c.(55-57)CCG>CCA	p.P19P	TMEM149_uc002obb.2_Silent_p.P19P|TMEM149_uc002obd.3_Silent_p.P19P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.P99P	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	19						integral to membrane|plasma membrane	protein binding|receptor activity				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)			AGGCTTCCGGCGGTGGCGCCA	0.672												
ARHGAP33	115703	broad.mit.edu	37	19	36279053	36279053	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36279053C>A	uc002obs.1	+	21	3188	c.3103C>A	c.(3103-3105)CGT>AGT	p.R1035S	ARHGAP33_uc002obt.1_Missense_Mutation_p.R1032S|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R784S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1196					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CCCCCGAAGCCGTTCAGATCC	0.687												
C19orf46	163183	broad.mit.edu	37	19	36499174	36499174	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36499174G>A	uc002ocq.1	-	2	313	c.224C>T	c.(223-225)CCG>CTG	p.P75L	C19orf46_uc002ocr.1_Missense_Mutation_p.P75L|C19orf46_uc002ocs.1_Missense_Mutation_p.P75L|C19orf46_uc010een.1_Intron	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	hypothetical protein LOC163183	75	Cytoplasmic (Potential).				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			ovary(1)	1	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGACCATCTCGGGGGGTGAGC	0.657												
CLIP3	25999	broad.mit.edu	37	19	36510166	36510166	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36510166C>T	uc010eeq.1	-	7	1243	c.961G>A	c.(961-963)GGC>AGC	p.G321S	uc002ocy.2_Missense_Mutation_p.R27C|CLIP3_uc002ocz.1_Missense_Mutation_p.G321S	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	321	CAP-Gly 1.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCACTGGCCGCTGGCAAAC	0.627												
GGN	199720	broad.mit.edu	37	19	38877092	38877092	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38877092G>A	uc002oij.1	-	3	945	c.810C>T	c.(808-810)GGC>GGT	p.G270G	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.G187G	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	270	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCCTCCGCCGCCCCCCAGCG	0.657												
GGN	199720	broad.mit.edu	37	19	38877558	38877558	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38877558G>A	uc002oij.1	-	3	479	c.344C>T	c.(343-345)GCG>GTG	p.A115V	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A32V	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	115	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGTGCCCGCGGGCTTTTG	0.756												
RYR1	6261	broad.mit.edu	37	19	38949887	38949887	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38949887C>A	uc002oit.2	+	19	2399	c.2269C>A	c.(2269-2271)CGC>AGC	p.R757S	RYR1_uc002oiu.2_Missense_Mutation_p.R757S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	757	Cytoplasmic.|B30.2/SPRY 1.				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)	CATCTCCTTCCGCATCAACGG	0.612												
RYR1	6261	broad.mit.edu	37	19	38990283	38990283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:38990283G>A	uc002oit.2	+	44	7166	c.7036G>A	c.(7036-7038)GTG>ATG	p.V2346M	RYR1_uc002oiu.2_Missense_Mutation_p.V2346M|RYR1_uc002oiv.1_Translation_Start_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2346	Cytoplasmic.|6 X approximate repeats.		V -> M (in MHS1).		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)	AGGCGAGAGCGTGGAGGAGAA	0.667												
IL28A	282616	broad.mit.edu	37	19	39759369	39759369	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:39759369C>T	uc002oku.1	+	2	115	c.63C>T	c.(61-63)ACC>ACT	p.T21T		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	21					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CAGTGCTGACCGTGACTGGAG	0.632												
ZNF780A	284323	broad.mit.edu	37	19	40581804	40581804	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:40581804T>C	uc002omy.2	-	6	770	c.545A>G	c.(544-546)CAG>CGG	p.Q182R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q182R|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q183R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	182	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCTGATGCTGAATAAGATT	0.373												
AKT2	208	broad.mit.edu	37	19	40741932	40741932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:40741932C>T	uc002onf.2	-	11	1302	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H	AKT2_uc010egs.2_Missense_Mutation_p.R304H|AKT2_uc010egt.2_Missense_Mutation_p.R285H|AKT2_uc010xvj.1_Missense_Mutation_p.R285H|AKT2_uc010egu.1_Missense_Mutation_p.R285H|AKT2_uc002one.2_Missense_Mutation_p.R243H	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	347	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			GAAGGGCAGGCGGCCGCACAT	0.622			A		ovarian|pancreatic 							
SPTBN4	57731	broad.mit.edu	37	19	41071344	41071344	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:41071344G>T	uc002ony.2	+	28	6017	c.5931G>T	c.(5929-5931)GTG>GTT	p.V1977V	SPTBN4_uc002onz.2_Silent_p.V1977V|SPTBN4_uc010egx.2_Silent_p.V720V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1977	Spectrin 17.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTCATCAGTGGAGGTGCTCA	0.632												
SNRPA	6626	broad.mit.edu	37	19	41265514	41265514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:41265514C>T	uc002ooz.2	+	3	960	c.425C>T	c.(424-426)CCG>CTG	p.P142L	SNRPA_uc002opa.2_Missense_Mutation_p.P92L	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	142	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGCCTGTCCCGGTAAGCCAG	0.672												
AXL	558	broad.mit.edu	37	19	41726615	41726615	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:41726615C>A	uc010ehj.2	+	2	350	c.160C>A	c.(160-162)CTT>ATT	p.L54I	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.L54I|AXL_uc010ehk.2_Missense_Mutation_p.L54I	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	54	Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CACGGGCACCCTTCGGTGTCA	0.632												
ZNF574	64763	broad.mit.edu	37	19	42584303	42584303	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:42584303C>T	uc002osm.3	+	2	1714	c.1545C>T	c.(1543-1545)CGC>CGT	p.R515R	ZNF574_uc002osk.3_Silent_p.R605R	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	515	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				ACCACCTGCGCACACACACAG	0.607												
PRR19	284338	broad.mit.edu	37	19	42814313	42814313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:42814313C>T	uc002oti.2	+	2	955	c.577C>T	c.(577-579)CGG>TGG	p.R193W	PRR19_uc002oth.1_Missense_Mutation_p.R193W|PRR19_uc002otj.2_Missense_Mutation_p.R193W	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	193											0		Prostate(69;0.00682)				CCTGGTGCTTCGGGGCTGCCA	0.612												
IRGQ	126298	broad.mit.edu	37	19	44099118	44099118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:44099118C>T	uc002oww.2	-	1	491	c.373G>A	c.(373-375)GCC>ACC	p.A125T	IRGQ_uc010eiv.2_Missense_Mutation_p.A125T|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	125							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				CGGGCCTGGGCGGCAGTCTGT	0.682												
ZNF285	26974	broad.mit.edu	37	19	44891368	44891368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:44891368C>T	uc002ozd.3	-	4	1126	c.1039G>A	c.(1039-1041)GAT>AAT	p.D347N	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.D354N	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	347	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						CCACATTCATCGCATTTGTAG	0.473												
CLPTM1	1209	broad.mit.edu	37	19	45493811	45493811	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:45493811C>A	uc002pai.2	+	10	1306	c.1291C>A	c.(1291-1293)CTC>ATC	p.L431I	CLPTM1_uc010xxf.1_Missense_Mutation_p.L329I|CLPTM1_uc010xxg.1_Missense_Mutation_p.L417I	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	431	Helical; (Potential).				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)		CCTCATCGACCTCTGGAAGAT	0.602												
NOVA2	4858	broad.mit.edu	37	19	46443245	46443245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:46443245G>A	uc002pdv.2	-	4	1403	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	452	KH 3.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCGGTTCCGCGTGCCTGGCAG	0.667												
GRLF1	2909	broad.mit.edu	37	19	47425372	47425372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:47425372G>A	uc010ekv.2	+	1	3440	c.3440G>A	c.(3439-3441)CGC>CAC	p.R1147H		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1147					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)		GAGCGAGGGCGCAAGGTTTCC	0.557												
GRLF1	2909	broad.mit.edu	37	19	47492913	47492913	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:47492913C>T	uc010ekv.2	+	4	4017	c.4017C>T	c.(4015-4017)ATC>ATT	p.I1339I		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1339	Rho-GAP.				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)		ACATGCAGATCGACTTGGTGG	0.542												
KCNJ14	3770	broad.mit.edu	37	19	48967762	48967762	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:48967762C>T	uc002pje.1	+	3	1444	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C	KCNJ14_uc002pjf.1_Missense_Mutation_p.R347C	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	347	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GGTCGACTATCGCCACTTCCA	0.582												
PIH1D1	55011	broad.mit.edu	37	19	49951145	49951145	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:49951145C>T	uc002pns.2	-	5	704	c.420G>A	c.(418-420)GAG>GAA	p.E140E	PIH1D1_uc010yap.1_Missense_Mutation_p.A171T	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	140					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TGATCACGAGCTCCCGCAAGA	0.627												
POLD1	5424	broad.mit.edu	37	19	50917112	50917112	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:50917112G>A	uc002psb.3	+	19	2420	c.2364G>A	c.(2362-2364)TCG>TCA	p.S788S	POLD1_uc002psc.3_Silent_p.S788S|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.S814S	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	788					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACTTCCCGTCGCCCATCCGGC	0.637								DNA_polymerases_(catalytic_subunits)				
SIGLEC8	27181	broad.mit.edu	37	19	51955752	51955752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:51955752G>A	uc002pwt.2	-	7	1448	c.1381C>T	c.(1381-1383)CAG>TAG	p.Q461*	SIGLEC8_uc010yda.1_Nonsense_Mutation_p.Q352*|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.Q368*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	461	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTGTCCCTGCGGGTCCTGA	0.562												
ZNF534	147658	broad.mit.edu	37	19	52941489	52941489	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:52941489A>G	uc002pzk.2	+	4	876	c.815A>G	c.(814-816)CAA>CGA	p.Q272R	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.Q259R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	272	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACCTTGCACAACATCAGAAA	0.368												
ZNF765	91661	broad.mit.edu	37	19	53911570	53911570	+	Silent	SNP	G	G	A	rs117283634	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:53911570G>A	uc010ydx.1	+	6	1089	c.762G>A	c.(760-762)TCG>TCA	p.S254S	ZNF765_uc002qbm.2_Silent_p.S254S|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	254	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		TCTTTAATTCGAAGCGATACG	0.393												
CACNG8	59283	broad.mit.edu	37	19	54483177	54483177	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54483177G>A	uc002qcs.1	+	3	527	c.421G>A	c.(421-423)GGG>AGG	p.G141R	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	142	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCTGCTGCTCGGGGGTGTGTG	0.637												
OSCAR	126014	broad.mit.edu	37	19	54600440	54600440	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54600440A>G	uc002qdd.2	-	4	274	c.157T>C	c.(157-159)TCA>CCA	p.S53P	OSCAR_uc002qcy.2_Missense_Mutation_p.S32P|OSCAR_uc002qcz.2_Missense_Mutation_p.S28P|OSCAR_uc002qda.2_Missense_Mutation_p.S32P|OSCAR_uc002qdb.2_Missense_Mutation_p.S17P|OSCAR_uc010erc.2_5'UTR|OSCAR_uc002qdc.2_Missense_Mutation_p.S42P	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	28	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGGTGGTATGAAGCTGGGGGG	0.592												
LILRB5	10990	broad.mit.edu	37	19	54760025	54760025	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54760025A>G	uc002qex.2	-	4	647	c.536T>C	c.(535-537)CTG>CCG	p.L179P	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.L170P|LILRB5_uc002qey.2_Missense_Mutation_p.L179P|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	179	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACAGGGAACAGGGCCTGGGA	0.557												
BRSK1	84446	broad.mit.edu	37	19	55814186	55814186	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:55814186G>T	uc002qkg.2	+	10	1256	c.979G>T	c.(979-981)GGC>TGC	p.G327C	BRSK1_uc002qkf.2_Missense_Mutation_p.G343C|BRSK1_uc002qkh.2_Missense_Mutation_p.G22C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	327	UBA.			G->A: Abolishes activation of kinase activity.	establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.G327D(1)		ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCATCACTGGGCTGCTTCAG	0.682												
ZNF606	80095	broad.mit.edu	37	19	58491210	58491210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:58491210C>T	uc002qqw.2	-	7	1456	c.838G>A	c.(838-840)GCA>ACA	p.A280T	ZNF606_uc010yhp.1_Missense_Mutation_p.A190T	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTATTCTTGCAGGGTAAATA	0.328												
ZBTB45	84878	broad.mit.edu	37	19	59027859	59027859	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:59027859G>A	uc002qtd.2	-	2	1474	c.1182C>T	c.(1180-1182)CGC>CGT	p.R394R	ZBTB45_uc002qte.2_Silent_p.R394R|ZBTB45_uc002qtf.2_Silent_p.R394R	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	394	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CACCTGGGGTGCGAGCAGGGG	0.647												
PQLC3	130814	broad.mit.edu	37	2	11312071	11312071	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:11312071C>T	uc002rbc.2	+	5	508	c.375C>T	c.(373-375)AGC>AGT	p.S125S	PQLC3_uc010yjk.1_Silent_p.S125S	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	125						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTTTCATCAGCGCGGCCAGTA	0.398												
OTOF	9381	broad.mit.edu	37	2	26684616	26684616	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:26684616C>T	uc002rhk.2	-	43	5608	c.5481G>A	c.(5479-5481)CGG>CGA	p.R1827R	OTOF_uc010yla.1_Silent_p.R557R|OTOF_uc002rhh.2_Silent_p.R1060R|OTOF_uc002rhi.2_Silent_p.R1137R|OTOF_uc002rhj.2_Silent_p.R1060R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1827	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)					GCAGGGTGAGCCGCGCGGGGA	0.597												
DPYSL5	56896	broad.mit.edu	37	2	27157457	27157457	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:27157457C>T	uc002rhu.3	+	8	960	c.802C>T	c.(802-804)CTG>TTG	p.L268L	DPYSL5_uc002rhv.3_Silent_p.L268L	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	268					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGTTGTGCTGGCGGAGAC	0.448												
C2orf16	84226	broad.mit.edu	37	2	27804551	27804551	+	Silent	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:27804551T>A	uc002rkz.3	+	1	5163	c.5112T>A	c.(5110-5112)GGT>GGA	p.G1704G	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1704	9.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GCCATCGTGGTCCCTCTGAGA	0.592												
LTBP1	4052	broad.mit.edu	37	2	33567940	33567940	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:33567940A>C	uc002ros.2	+	25	3769	c.3769A>C	c.(3769-3771)AGT>CGT	p.S1257R	LTBP1_uc002rot.2_Missense_Mutation_p.S931R|LTBP1_uc002rou.2_Missense_Mutation_p.S930R|LTBP1_uc002rov.2_Missense_Mutation_p.S877R|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1256	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTTTGTGACAGTCACGGGTT	0.443												
LTBP1	4052	broad.mit.edu	37	2	33588554	33588554	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:33588554G>A	uc002ros.2	+	29	4371	c.4371G>A	c.(4369-4371)ACG>ACA	p.T1457T	LTBP1_uc002rot.2_Silent_p.T1131T|LTBP1_uc002rou.2_Silent_p.T1130T|LTBP1_uc002rov.2_Silent_p.T1077T|LTBP1_uc010ymz.1_Silent_p.T1088T|LTBP1_uc010yna.1_Silent_p.T1035T|LTBP1_uc010ynb.1_Silent_p.T354T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1456	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCAAGGGACGTACTATGATC	0.393												
TSPYL6	388951	broad.mit.edu	37	2	54482990	54482990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:54482990G>A	uc002rxr.2	-	1	420	c.299C>T	c.(298-300)GCG>GTG	p.A100V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	100					nucleosome assembly	nucleus					0						GGCAGAGGCCGCTTCTAGGCC	0.607												
MPHOSPH10	10199	broad.mit.edu	37	2	71361861	71361861	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71361861A>G	uc002sht.1	+	4	1384	c.1032A>G	c.(1030-1032)ACA>ACG	p.T344T	MPHOSPH10_uc010feb.1_Silent_p.T344T	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	344					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						CTGAAGATACAGGTGTTTTAA	0.294												
DYSF	8291	broad.mit.edu	37	2	71795404	71795404	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71795404G>T	uc002sie.2	+	26	3122	c.2746G>T	c.(2746-2748)GAC>TAC	p.D916Y	DYSF_uc010feg.2_Missense_Mutation_p.D947Y|DYSF_uc010feh.2_Missense_Mutation_p.D902Y|DYSF_uc002sig.3_Missense_Mutation_p.D902Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D916Y|DYSF_uc010fef.2_Missense_Mutation_p.D933Y|DYSF_uc010fei.2_Missense_Mutation_p.D933Y|DYSF_uc010fek.2_Missense_Mutation_p.D934Y|DYSF_uc010fej.2_Missense_Mutation_p.D903Y|DYSF_uc010fel.2_Missense_Mutation_p.D903Y|DYSF_uc010feo.2_Missense_Mutation_p.D948Y|DYSF_uc010fem.2_Missense_Mutation_p.D917Y|DYSF_uc010fen.2_Missense_Mutation_p.D934Y|DYSF_uc002sif.2_Missense_Mutation_p.D917Y	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	916	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GCTACCCAAGGACAGCTTCCG	0.617												
DYSF	8291	broad.mit.edu	37	2	71909668	71909668	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71909668A>G	uc002sie.2	+	54	6441	c.6065A>G	c.(6064-6066)GAC>GGC	p.D2022G	DYSF_uc010feg.2_Missense_Mutation_p.D2053G|DYSF_uc010feh.2_Missense_Mutation_p.D2029G|DYSF_uc002sig.3_Missense_Mutation_p.D2008G|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D2043G|DYSF_uc010fef.2_Missense_Mutation_p.D2060G|DYSF_uc010fei.2_Missense_Mutation_p.D2039G|DYSF_uc010fek.2_Missense_Mutation_p.D2040G|DYSF_uc010fej.2_Missense_Mutation_p.D2030G|DYSF_uc010fel.2_Missense_Mutation_p.D2009G|DYSF_uc010feo.2_Missense_Mutation_p.D2054G|DYSF_uc010fem.2_Missense_Mutation_p.D2044G|DYSF_uc010fen.2_Missense_Mutation_p.D2061G|DYSF_uc002sif.2_Missense_Mutation_p.D2023G|DYSF_uc010yqy.1_Missense_Mutation_p.D903G|DYSF_uc010yqz.1_Missense_Mutation_p.D783G	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	2022	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGGCGCCCCGACACCTCCTTC	0.498												
TET3	200424	broad.mit.edu	37	2	74273836	74273836	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:74273836G>A	uc002skb.3	+	1	387	c.387G>A	c.(385-387)CGG>CGA	p.R129R	TET3_uc010fez.1_Silent_p.R129R	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	129							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CCCTCGCGCGGCATGGTATGA	0.627												
INO80B	83444	broad.mit.edu	37	2	74683363	74683363	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:74683363G>T	uc002slg.2	+	4	549	c.504G>T	c.(502-504)AAG>AAT	p.K168N	INO80B_uc002slf.1_Missense_Mutation_p.K155N|INO80B_uc010yrr.1_Missense_Mutation_p.K140N|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.K186N|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	168					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						GAGACCTCAAGAAGGAGATCA	0.423												
ZAP70	7535	broad.mit.edu	37	2	98340609	98340609	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:98340609G>A	uc002syd.1	+	3	317	c.110G>A	c.(109-111)CGC>CAC	p.R37H	ZAP70_uc010yvf.1_Missense_Mutation_p.R37H|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	37	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TTCCTGCTGCGCCAGTGCCTG	0.687												
SLC35F5	80255	broad.mit.edu	37	2	114500441	114500441	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:114500441C>T	uc002tku.1	-	7	1002	c.578G>A	c.(577-579)CGT>CAT	p.R193H	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.R187H|SLC35F5_uc002tkw.2_Missense_Mutation_p.R193H	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	193					transport	integral to membrane					0						GAACCTCACACGAGACTTTTT	0.353												
TFCP2L1	29842	broad.mit.edu	37	2	122000030	122000030	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:122000030G>A	uc002tmx.2	-	7	766	c.673C>T	c.(673-675)CGG>TGG	p.R225W	TFCP2L1_uc010flr.2_Missense_Mutation_p.R225W	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	225					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TTCTGTTTCCGATCGGCTCCC	0.557												
CACNB4	785	broad.mit.edu	37	2	152695680	152695680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:152695680G>A	uc002tya.2	-	14	1584	c.1516C>T	c.(1516-1518)CGA>TGA	p.R506*	CACNB4_uc002txy.2_Nonsense_Mutation_p.R472*|CACNB4_uc002txz.2_Nonsense_Mutation_p.R488*|CACNB4_uc010fnz.2_Nonsense_Mutation_p.R444*	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	506					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GGTGATCCTCGGTTCCTATGG	0.453												
BAZ2B	29994	broad.mit.edu	37	2	160242867	160242867	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:160242867G>A	uc002uao.2	-	22	3820	c.3468C>T	c.(3466-3468)TAC>TAT	p.Y1156Y	BAZ2B_uc002uap.2_Silent_p.Y1120Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTTTTACCTTGTATCCTGTTA	0.358												
RBMS1	5937	broad.mit.edu	37	2	161159865	161159865	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:161159865G>A	uc002ubo.2	-	5	980	c.536C>T	c.(535-537)ACA>ATA	p.T179I	RBMS1_uc002ubj.2_Missense_Mutation_p.T146I|RBMS1_uc002ubk.2_Missense_Mutation_p.T146I|RBMS1_uc002ubl.2_Missense_Mutation_p.T177I|RBMS1_uc002ubn.2_Missense_Mutation_p.T179I|RBMS1_uc002ubi.3_Missense_Mutation_p.T179I|RBMS1_uc002ubm.2_Missense_Mutation_p.T146I|RBMS1_uc002ubp.2_Missense_Mutation_p.T179I|RBMS1_uc010fox.2_Missense_Mutation_p.T179I	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	179	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						ACCACGACTTGTACCACTGGA	0.383												
FAP	2191	broad.mit.edu	37	2	163074649	163074649	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:163074649C>A	uc002ucd.2	-	9	817	c.609G>T	c.(607-609)GAG>GAT	p.E203D	FAP_uc010zct.1_Missense_Mutation_p.E178D|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.E170D	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	203	Extracellular (Potential).	Substrate.			endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						CAAGCATTTCCTCTGAAAAAT	0.284												
CSRNP3	80034	broad.mit.edu	37	2	166536162	166536162	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:166536162A>G	uc002udf.2	+	7	2033	c.1657A>G	c.(1657-1659)ATT>GTT	p.I553V	CSRNP3_uc002udg.2_Missense_Mutation_p.I553V	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	553					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						TGACAGTCACATTTCAGAGCA	0.453												
SP3	6670	broad.mit.edu	37	2	174774753	174774753	+	Silent	SNP	G	G	T	rs149409403		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:174774753G>T	uc002uig.2	-	7	2426	c.2262C>A	c.(2260-2262)TCC>TCA	p.S754S	SP3_uc002uie.2_Silent_p.S686S|SP3_uc002uif.2_Silent_p.S701S|SP3_uc010zel.1_Silent_p.S751S	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	754					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGCTGGTGGCGGAAGTATTAA	0.393												
HOXD11	3237	broad.mit.edu	37	2	176972292	176972292	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:176972292G>A	uc002uki.2	+	1	209	c.209G>A	c.(208-210)CGC>CAC	p.R70H	HOXD11_uc010fqx.2_Intron	NM_021192	NP_067015	P31277	HXD11_HUMAN	homeobox D11	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGCCTGGAGCGCGCCAAGTGG	0.388			T	NUP98	AML							
TTN	7273	broad.mit.edu	37	2	179425103	179425103	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:179425103T>C	uc010zfg.1	-	275	78276	c.78052A>G	c.(78052-78054)ATA>GTA	p.I26018V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I19713V|TTN_uc010zfi.1_Missense_Mutation_p.I19646V|TTN_uc010zfj.1_Missense_Mutation_p.I19521V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26945							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)			CTTTCAATTATATATCCAGAT	0.408												
TTN	7273	broad.mit.edu	37	2	179469726	179469726	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:179469726C>T	uc010zfg.1	-	229	46698	c.46474G>A	c.(46474-46476)GTT>ATT	p.V15492I	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9187I|TTN_uc010zfi.1_Missense_Mutation_p.V9120I|TTN_uc010zfj.1_Missense_Mutation_p.V8995I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16419							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)			TATACTTCAACGTGAACATTT	0.428												
TTN	7273	broad.mit.edu	37	2	179577126	179577126	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:179577126T>C	uc010zfg.1	-	92	24015	c.23791A>G	c.(23791-23793)ACA>GCA	p.T7931A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4592A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8858							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)			TCCTCTACTGTGCTACTTGGA	0.393												
MFSD6	54842	broad.mit.edu	37	2	191300954	191300954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:191300954G>A	uc002urz.2	+	3	523	c.199G>A	c.(199-201)GAT>AAT	p.D67N		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	67					transmembrane transport	integral to membrane				ovary(2)	2						GATAAACAACGATCTTCTAAT	0.398												
COQ10B	80219	broad.mit.edu	37	2	198327368	198327368	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:198327368T>G	uc002uuh.1	+	3	414	c.360T>G	c.(358-360)TAT>TAG	p.Y120*	COQ10B_uc010fsl.1_Nonsense_Mutation_p.Y92*	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B precursor	120						mitochondrial inner membrane					0			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATCTGGATATTGTAAAACAA	0.358												
C2orf69	205327	broad.mit.edu	37	2	200789976	200789976	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:200789976A>C	uc010zhb.1	+	2	708	c.525A>C	c.(523-525)CCA>CCC	p.P175P		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	175						extracellular region				central_nervous_system(1)	1						TTGGTGCCCCAGAACACAATA	0.323												
CYP27A1	1593	broad.mit.edu	37	2	219677014	219677014	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:219677014G>A	uc002viz.3	+	3	950	c.516G>A	c.(514-516)GCG>GCA	p.A172A		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	172					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CGGAAGCAGCGCTCTATACGG	0.572												
OBSL1	23363	broad.mit.edu	37	2	220421238	220421238	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:220421238T>C	uc010fwk.2	-	13	4331	c.4274A>G	c.(4273-4275)GAT>GGT	p.D1425G	OBSL1_uc002vmh.1_Missense_Mutation_p.D324G|OBSL1_uc010zli.1_Missense_Mutation_p.D232G|OBSL1_uc010fwl.1_Missense_Mutation_p.D900G	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1425	Ig-like 12.				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)		GGTCCCTGCATCCCCCAGTTG	0.617												
SLC4A3	6508	broad.mit.edu	37	2	220502442	220502442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:220502442C>T	uc002vmp.3	+	17	2944	c.2675C>T	c.(2674-2676)ACG>ATG	p.T892M	SLC4A3_uc002vmo.3_Missense_Mutation_p.T919M|SLC4A3_uc010fwm.2_Missense_Mutation_p.T442M|SLC4A3_uc010fwn.1_Missense_Mutation_p.T401M	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	892	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCCCAATACGGCACTGCTC	0.657												
AGAP1	116987	broad.mit.edu	37	2	236949398	236949398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:236949398C>T	uc002vvs.2	+	15	2399	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	AGAP1_uc002vvt.2_Missense_Mutation_p.R549W	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	602					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						TGCCCAGTCCCGGCTGACGAG	0.577												
KIF1A	547	broad.mit.edu	37	2	241706365	241706365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:241706365C>T	uc002vzy.2	-	18	1770	c.1624G>A	c.(1624-1626)GTC>ATC	p.V542I	KIF1A_uc010fzk.2_Missense_Mutation_p.V551I|KIF1A_uc002vzz.1_Missense_Mutation_p.V551I	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	542	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGAAGACGCAGTGCTCC	0.637												
HDLBP	3069	broad.mit.edu	37	2	242181952	242181952	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:242181952C>T	uc002waz.2	-	17	2320	c.2092G>A	c.(2092-2094)GAC>AAC	p.D698N	HDLBP_uc002wba.2_Missense_Mutation_p.D698N|HDLBP_uc002wbb.2_Missense_Mutation_p.D650N	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	698	KH 8.				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)		ACAACGGTGTCGCTTCCTGAA	0.602												
ProSAPiP1	9762	broad.mit.edu	37	20	3145154	3145154	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:3145154C>T	uc002wia.1	-	3	3366	c.1968G>A	c.(1966-1968)GAG>GAA	p.E656E	ProSAPiP1_uc002wib.1_Silent_p.E610E	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	656						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						AGGCCTTCTTCTCCTCGCCAT	0.642												
ITPA	3704	broad.mit.edu	37	20	3204042	3204042	+	Silent	SNP	C	C	T	rs145578636	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:3204042C>T	uc002wid.2	+	8	661	c.519C>T	c.(517-519)AAC>AAT	p.N173N	ITPA_uc002wie.2_Silent_p.N156N|ITPA_uc002wif.2_RNA	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	inosine triphosphatase isoform a	173					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			ovary(1)	1						CGGAGAAGAACGCTGTCTCCC	0.622												
KIF16B	55614	broad.mit.edu	37	20	16359990	16359990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:16359990G>A	uc002wpg.1	-	19	2815	c.2657C>T	c.(2656-2658)ACG>ATG	p.T886M	KIF16B_uc002wpe.1_Missense_Mutation_p.T268M|KIF16B_uc002wpf.1_Missense_Mutation_p.T268M|KIF16B_uc010gch.1_Missense_Mutation_p.T886M|KIF16B_uc010gci.1_Missense_Mutation_p.T886M|KIF16B_uc010gcj.1_Missense_Mutation_p.T897M	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	886	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						AGGCACTTCCGTGACATCTGT	0.418												
NKX2-2	4821	broad.mit.edu	37	20	21492693	21492693	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:21492693C>T	uc002wsi.2	-	2	1047	c.690G>A	c.(688-690)GCG>GCA	p.A230A		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	230					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						AGGGAATGCCCGCCTGGAAGG	0.672												
SSTR4	6754	broad.mit.edu	37	20	23016705	23016705	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:23016705C>T	uc002wsr.2	+	1	649	c.585C>T	c.(583-585)GCC>GCT	p.A195A		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	195	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGGCCAGGCCGTGGCCTGCA	0.662												
HCK	3055	broad.mit.edu	37	20	30672331	30672331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:30672331G>A	uc002wxh.2	+	8	991	c.820G>A	c.(820-822)GGG>AGG	p.G274R	HCK_uc010gdy.2_Missense_Mutation_p.G253R|HCK_uc002wxi.2_Missense_Mutation_p.G252R	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	274	Protein kinase.|ATP.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGGCAGTTTGGGGAAGTCTG	0.587												
ASXL1	171023	broad.mit.edu	37	20	30956840	30956840	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:30956840C>A	uc002wxs.2	+	3	592	c.166C>A	c.(166-168)CTC>ATC	p.L56I	ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	56					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TCTCGCATGCCTCAATGCTAT	0.443			F|N|Mis		MDS|CMML							
ASXL1	171023	broad.mit.edu	37	20	31022318	31022318	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:31022318G>A	uc002wxs.2	+	12	2229	c.1803G>A	c.(1801-1803)ACG>ACA	p.T601T	ASXL1_uc010geb.2_Silent_p.T492T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	601					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TCCCCACCACGGAGTCCTCCT	0.562			F|N|Mis		MDS|CMML							
BPIL3	128859	broad.mit.edu	37	20	31619462	31619462	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:31619462G>A	uc010zuc.1	+	1	9	c.9G>A	c.(7-9)CGG>CGA	p.R3R	BPIL3_uc010zud.1_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	3						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CCATGCTGCGGATCCTGTGCC	0.642												
NCOA6	23054	broad.mit.edu	37	20	33330813	33330813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:33330813G>A	uc002xav.2	-	12	5818	c.3247C>T	c.(3247-3249)CAA>TAA	p.Q1083*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.Q1083*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1083	NCOA1-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						GCAGGTCCTTGCAGACTGACC	0.522												
NCOA6	23054	broad.mit.edu	37	20	33331122	33331122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:33331122G>A	uc002xav.2	-	12	5509	c.2938C>T	c.(2938-2940)CAG>TAG	p.Q980*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.Q980*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	980	NCOA1-binding region.|Gln-rich.|CREBBP-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						AGTGGCCTCTGTTCAACTGGT	0.502												
GGT7	2686	broad.mit.edu	37	20	33442648	33442648	+	Missense_Mutation	SNP	T	T	C	rs141899095	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:33442648T>C	uc002xay.2	-	9	1224	c.1181A>G	c.(1180-1182)AAT>AGT	p.N394S	GGT7_uc002xaz.1_Missense_Mutation_p.N411S	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	394	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						GCTGGTGAGATTGAAGCCCTC	0.572												
ERGIC3	51614	broad.mit.edu	37	20	34143892	34143892	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:34143892C>T	uc002xct.2	+	9	875	c.806C>T	c.(805-807)GCG>GTG	p.A269V	ERGIC3_uc010zvg.1_Missense_Mutation_p.A269V|ERGIC3_uc002xcs.2_Missense_Mutation_p.A274V|ERGIC3_uc002xcu.2_Missense_Mutation_p.A284V|ERGIC3_uc002xcv.2_Missense_Mutation_p.A232V	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	269	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AATGTCACTGCGCCCCAAGGT	0.587												
RBM39	9584	broad.mit.edu	37	20	34313012	34313012	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:34313012G>A	uc002xeb.2	-	7	826	c.482C>T	c.(481-483)GCG>GTG	p.A161V	RBM39_uc002xdz.2_Missense_Mutation_p.A137V|RBM39_uc002xea.2_Missense_Mutation_p.A4V|RBM39_uc010gfn.2_Missense_Mutation_p.A4V|RBM39_uc010zvm.1_Missense_Mutation_p.A139V|RBM39_uc002xeg.2_Missense_Mutation_p.A139V|RBM39_uc002xec.2_Missense_Mutation_p.A161V|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_Missense_Mutation_p.A4V|RBM39_uc002xef.2_Missense_Mutation_p.A4V|RBM39_uc010zvn.1_Missense_Mutation_p.A4V	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	161	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AATTCTTGCCGCCAGCTGCAT	0.368												
KCNB1	3745	broad.mit.edu	37	20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:47991220G>A	uc002xur.1	-	2	1041	c.877C>T	c.(877-879)CGC>TGC	p.R293C	KCNB1_uc002xus.1_Missense_Mutation_p.R293C	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCACGCGGCGGACATTCTGG	0.542												
ZNF217	7764	broad.mit.edu	37	20	52192367	52192367	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:52192367T>A	uc002xwq.3	-	3	3207	c.2936A>T	c.(2935-2937)GAT>GTT	p.D979V	ZNF217_uc010gij.1_Missense_Mutation_p.D971V	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	979					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTTGGAGAATCGACCTCGCT	0.552												
DOK5	55816	broad.mit.edu	37	20	53205319	53205319	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:53205319C>T	uc002xwy.2	+	4	603	c.383C>T	c.(382-384)GCC>GTC	p.A128V	DOK5_uc010gin.2_Missense_Mutation_p.A20V|DOK5_uc002xwz.2_Missense_Mutation_p.P12S	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	128							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			GACTTACTGGCCACTGGGGTT	0.418												
GMEB2	26205	broad.mit.edu	37	20	62221599	62221599	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:62221599G>A	uc002yfp.1	-	9	1915	c.1436C>T	c.(1435-1437)ACG>ATG	p.T479M	GMEB2_uc002yfo.1_Missense_Mutation_p.T401M|GMEB2_uc002yfq.1_Missense_Mutation_p.T479M	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	479					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GCCAGGCAACGTGAGCAGCTG	0.697												
ZGPAT	84619	broad.mit.edu	37	20	62364695	62364695	+	Missense_Mutation	SNP	C	C	T	rs145256068		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:62364695C>T	uc002ygk.2	+	3	887	c.709C>T	c.(709-711)CGC>TGC	p.R237C	ZGPAT_uc002ygi.2_Missense_Mutation_p.R237C|ZGPAT_uc002ygj.2_Missense_Mutation_p.R237C|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.R237C|ZGPAT_uc002ygm.2_Missense_Mutation_p.R237C|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	237					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)					GCACGCAGCACGCATCACCGG	0.672												
KRTAP11-1	337880	broad.mit.edu	37	21	32253379	32253379	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:32253379G>A	uc002yov.2	-	1	496	c.465C>T	c.(463-465)TGC>TGT	p.C155C		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	155						keratin filament	structural molecule activity			pancreas(1)	1						AGCTGGACACGCAGGACTGCT	0.582												
TIAM1	7074	broad.mit.edu	37	21	32617947	32617947	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:32617947C>T	uc002yow.1	-	7	1913	c.1441G>A	c.(1441-1443)GGC>AGC	p.G481S	TIAM1_uc011adk.1_Missense_Mutation_p.G481S|TIAM1_uc011adl.1_Missense_Mutation_p.G481S|TIAM1_uc002yox.1_Missense_Mutation_p.G89S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	481	PH 1.				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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCAGACCTGCCGTCGCTCTCG	0.527												
GART	2618	broad.mit.edu	37	21	34882226	34882226	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:34882226A>G	uc002yrx.2	-	18	2451	c.2316T>C	c.(2314-2316)GGT>GGC	p.G772G	GART_uc002yrz.2_Silent_p.G772G|GART_uc010gmd.2_Silent_p.G434G|GART_uc002yry.2_Silent_p.G772G	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	772	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	CACGTGGGGAACCTTCATTTC	0.303												
GART	2618	broad.mit.edu	37	21	34903066	34903066	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:34903066T>C	uc002yrx.2	-	7	857	c.722A>G	c.(721-723)CAG>CGG	p.Q241R	GART_uc002yrz.2_Missense_Mutation_p.Q241R|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.Q241R|GART_uc002ysa.2_Missense_Mutation_p.Q241R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	241	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	GGGAAGTACCTGAGGGGCTGG	0.483												
POFUT2	23275	broad.mit.edu	37	21	46689763	46689763	+	Missense_Mutation	SNP	C	C	T	rs141785110	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:46689763C>T	uc002zhc.2	-	7	1028	c.1003G>A	c.(1003-1005)GTC>ATC	p.V335I	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.V335I	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	335					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		CCCTTTCTGACGGCATCTGTG	0.383												
COL6A1	1291	broad.mit.edu	37	21	47401807	47401807	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:47401807T>C	uc002zhu.1	+	1	145	c.43T>C	c.(43-45)TGC>CGC	p.C15R		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	15					axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTGCAGGCCTGCTGGACAGC	0.736												
COL6A2	1292	broad.mit.edu	37	21	47552160	47552160	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:47552160C>T	uc002zia.1	+	28	2836	c.2754C>T	c.(2752-2754)GGC>GGT	p.G918G	COL6A2_uc002zib.1_Silent_p.G324G|COL6A2_uc002zic.1_5'UTR|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	918	Nonhelical region.|VWFA 3.				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)		CGCACGTGGGCGCAGGCGTGG	0.677												
PCNT	5116	broad.mit.edu	37	21	47841889	47841889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:47841889G>A	uc002zji.3	+	32	7137	c.7030G>A	c.(7030-7032)GGC>AGC	p.G2344S	PCNT_uc002zjj.2_Missense_Mutation_p.G2226S	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2344					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTTAGGTGACGGCTCGGGTTT	0.637												
CCT8L2	150160	broad.mit.edu	37	22	17072813	17072813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:17072813C>T	uc002zlp.1	-	1	888	c.628G>A	c.(628-630)GGG>AGG	p.G210R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	210					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTGTCCCCCCGGGCAGCGCG	0.612												
SLC25A18	83733	broad.mit.edu	37	22	18072980	18072980	+	Missense_Mutation	SNP	G	G	A	rs140365489	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:18072980G>A	uc002zmp.1	+	11	1420	c.926G>A	c.(925-927)CGC>CAC	p.R309H	SLC25A18_uc002zmq.1_Missense_Mutation_p.R309H	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	309						integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	ATTGGAGAGCGCATCTTAAAG	0.542												
DGCR14	8220	broad.mit.edu	37	22	19130370	19130370	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19130370T>G	uc002zou.2	-	2	210	c.173A>C	c.(172-174)GAT>GCT	p.D58A	DGCR14_uc002zot.2_5'UTR|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	58					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					CTTCTCCACATCAGGAAAGAA	0.438												
CLDN5	7122	broad.mit.edu	37	22	19511290	19511290	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19511290C>T	uc002zpu.2	-	2	959	c.744G>A	c.(742-744)GCG>GCA	p.A248A	CLDN5_uc010grr.2_Silent_p.A248A	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	163	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CGATGTACAGCGCTGCGCCCA	0.672												
TBX1	6899	broad.mit.edu	37	22	19748693	19748693	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19748693G>A	uc002zqb.2	+	3	429	c.300G>A	c.(298-300)CCG>CCA	p.P100P	TBX1_uc002zqa.1_Silent_p.P100P|TBX1_uc002zqc.2_Silent_p.P100P	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	100					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCAAGGCGCCGGTGAAGAAGA	0.493												
ARVCF	421	broad.mit.edu	37	22	19961272	19961272	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:19961272C>T	uc002zqz.2	-	13	2404	c.2133G>A	c.(2131-2133)CTG>CTA	p.L711L	ARVCF_uc002zqy.2_Silent_p.L227L	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	711	ARM 8.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CAAGCACCGGCAGCCCGCGCT	0.657												
GNAZ	2781	broad.mit.edu	37	22	23438138	23438138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:23438138C>T	uc002zwu.1	+	2	793	c.256C>T	c.(256-258)CGG>TGG	p.R86W	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	86						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGCATCATCCGGGCCCTGGC	0.632												
CABIN1	23523	broad.mit.edu	37	22	24572175	24572175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:24572175C>T	uc002zzi.1	+	35	6264	c.6137C>T	c.(6136-6138)CCG>CTG	p.P2046L	CABIN1_uc002zzj.1_Missense_Mutation_p.P1967L|CABIN1_uc002zzl.1_Missense_Mutation_p.P2046L|CABIN1_uc010gul.1_Intron	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2046					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						ACAAGTTCCCCGGCAGAGCCA	0.682												
CABIN1	23523	broad.mit.edu	37	22	24574128	24574128	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:24574128C>T	uc002zzi.1	+	37	6754	c.6627C>T	c.(6625-6627)AGC>AGT	p.S2209S	CABIN1_uc002zzj.1_Silent_p.S2130S|CABIN1_uc002zzl.1_Silent_p.S2209S|CABIN1_uc010gul.1_Silent_p.S147S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2209					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						CGCTGGAGAGCGAGACAGACG	0.617												
GGT1	2678	broad.mit.edu	37	22	25024064	25024064	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:25024064G>A	uc003aan.1	+	14	1840	c.1353G>A	c.(1351-1353)TCG>TCA	p.S451S	GGT1_uc003aas.1_Silent_p.S451S|GGT1_uc003aat.1_Silent_p.S451S|GGT1_uc003aau.1_Silent_p.S451S|GGT1_uc003aav.1_Silent_p.S451S|GGT1_uc003aaw.1_Silent_p.S451S|GGT1_uc003aax.1_Silent_p.S451S|GGT1_uc003aay.1_Silent_p.S107S	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	451	Extracellular (Potential).			S->A: Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452.	glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	AGCCGCTCTCGTCCATGTGCC	0.687												
CRYBB3	1417	broad.mit.edu	37	22	25601264	25601264	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:25601264C>T	uc003abo.1	+	5	477	c.405C>T	c.(403-405)GAC>GAT	p.D135D		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	135	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens				0						TGGATGATGACGTGCCCAGCC	0.572												
HPS4	89781	broad.mit.edu	37	22	26860585	26860585	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:26860585C>T	uc003acl.2	-	11	1670	c.1011G>A	c.(1009-1011)AGG>AGA	p.R337R	HPS4_uc003aci.2_Silent_p.R332R|HPS4_uc003acj.2_Silent_p.R201R|HPS4_uc003ack.2_Silent_p.R128R|HPS4_uc003acn.2_Silent_p.R183R|HPS4_uc010gvd.1_Silent_p.R355R|HPS4_uc003ach.2_Silent_p.R72R	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	337					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						GTCCTGCGGGCCTGATGCTCT	0.577									Hermansky-Pudlak_syndrome			
MN1	4330	broad.mit.edu	37	22	28193443	28193443	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:28193443C>T	uc003adj.2	-	1	4044	c.3089G>A	c.(3088-3090)GGC>GAC	p.G1030D		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1030							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CTTGGCCCCGCCGTCCAGGGA	0.652			T	ETV6	AML|meningioma							
NEFH	4744	broad.mit.edu	37	22	29879422	29879422	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:29879422G>A	uc003afo.2	+	2	1013	c.942G>A	c.(940-942)GCG>GCA	p.A314A		NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	314	Coil 2B.|Rod.				cell death|nervous system development	neurofilament					0						TGCGCTCAGCGCAGGAGGAGA	0.612												
OSBP2	23762	broad.mit.edu	37	22	31091509	31091509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:31091509G>A	uc003aiy.1	+	1	717	c.613G>A	c.(613-615)GTG>ATG	p.V205M	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.V205M|OSBP2_uc011alb.1_Missense_Mutation_p.V205M|OSBP2_uc003aiz.1_Missense_Mutation_p.V205M	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	205	PH.				lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCGCTGGTTCGTGCTGGGCAA	0.602												
DEPDC5	9681	broad.mit.edu	37	22	32200851	32200851	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:32200851T>C	uc003als.2	+	17	1309	c.1167T>C	c.(1165-1167)CGT>CGC	p.R389R	DEPDC5_uc011als.1_Silent_p.R389R|DEPDC5_uc011alu.1_Silent_p.R389R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.R389R|DEPDC5_uc003alr.1_Silent_p.R389R|DEPDC5_uc011alt.1_Silent_p.R361R	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	389					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GTGCTCCCCGTGATTCTCGTC	0.443												
MYH9	4627	broad.mit.edu	37	22	36714278	36714278	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:36714278C>T	uc003apg.2	-	11	1432	c.1201G>A	c.(1201-1203)GTC>ATC	p.V401I	MYH9_uc003aph.1_Missense_Mutation_p.V265I	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	401	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GCCTTCTGGACGTAATCCCGT	0.562			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
IL2RB	3560	broad.mit.edu	37	22	37524763	37524763	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:37524763C>T	uc003aqv.1	-	10	1160	c.1029G>A	c.(1027-1029)GTG>GTA	p.V343V		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	343	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGGGCTCAGGCACCTTGTCCT	0.597												
GGA1	26088	broad.mit.edu	37	22	38016860	38016860	+	Silent	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:38016860C>A	uc003atc.2	+	6	833	c.468C>A	c.(466-468)ACC>ACA	p.T156T	GGA1_uc003atd.2_Silent_p.T156T|GGA1_uc003ate.2_Silent_p.T156T|GGA1_uc003atf.2_Silent_p.T83T	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	156	Interaction with ARF3.				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)					ATGACACTACCTTTCCCCTTC	0.522												
PLA2G6	8398	broad.mit.edu	37	22	38531068	38531068	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:38531068A>G	uc003auy.1	-	6	957	c.821T>C	c.(820-822)ATG>ACG	p.M274T	PLA2G6_uc003auz.1_Missense_Mutation_p.M274T|PLA2G6_uc003ava.1_Missense_Mutation_p.M274T|PLA2G6_uc003avb.2_Missense_Mutation_p.M274T|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.M239T	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	274	ANK 4.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GCTGCTGTCCATGCTGATGAT	0.622												
DMC1	11144	broad.mit.edu	37	22	38933618	38933618	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:38933618G>A	uc003avz.1	-	12	990	c.815C>T	c.(814-816)GCC>GTC	p.A272V	DMC1_uc011anv.1_Missense_Mutation_p.A217V	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	272					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					TCCTGGATCGGCAGTCATTTG	0.323								Homologous_recombination				
CBX6	23466	broad.mit.edu	37	22	39263058	39263058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:39263058C>T	uc003awl.2	-	5	458	c.395G>A	c.(394-396)CGT>CAT	p.R132H		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	132					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GGGCAGGGGACGGCGGGACAT	0.706												
XPNPEP3	63929	broad.mit.edu	37	22	41310311	41310311	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:41310311G>A	uc003azh.2	+	7	1130	c.1038G>A	c.(1036-1038)ACG>ACA	p.T346T	XPNPEP3_uc003azi.2_Silent_p.T267T|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	346					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						TCACACGTACGTGGCCAGTCA	0.448												
EP300	2033	broad.mit.edu	37	22	41566520	41566520	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:41566520G>T	uc003azl.3	+	27	4792	c.4397G>T	c.(4396-4398)TGG>TTG	p.W1466L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1466					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						CTGCAGGAATGGTACAAAAAA	0.478			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
POLDIP3	84271	broad.mit.edu	37	22	42998873	42998873	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:42998873C>T	uc003bcu.2	-	2	452	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	POLDIP3_uc011app.1_Missense_Mutation_p.R22Q|POLDIP3_uc003bcv.2_Missense_Mutation_p.R118Q|POLDIP3_uc011apq.1_Missense_Mutation_p.R118Q|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Missense_Mutation_p.R118Q	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	118					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						GATCTTCTCCCGGGCATCAGC	0.557												
SCUBE1	80274	broad.mit.edu	37	22	43617179	43617179	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:43617179C>A	uc003bdt.1	-	13	1637	c.1549G>T	c.(1549-1551)GAC>TAC	p.D517Y		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	517					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCCCACTCACCCAGCAGCGGC	0.647												
EFCAB6	64800	broad.mit.edu	37	22	43924750	43924750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:43924750G>A	uc003bdy.1	-	32	4704	c.4489C>T	c.(4489-4491)CGG>TGG	p.R1497W	EFCAB6_uc003bdz.1_Missense_Mutation_p.R1345W|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1345W	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1497	Interaction with AR.|Interaction with PARK7.|EF-hand 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AGGAATGCCCGGAGGAAGTCG	0.483												
GTSE1	51512	broad.mit.edu	37	22	46704465	46704465	+	Silent	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:46704465T>A	uc011aqy.1	+	4	599	c.387T>A	c.(385-387)CCT>CCA	p.P129P	GTSE1_uc011aqz.1_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	110					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTGAAGACCCTCGGAGCCAGG	0.463												
BRD1	23774	broad.mit.edu	37	22	50187724	50187724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50187724C>T	uc003biv.2	-	6	2804	c.2317G>A	c.(2317-2319)GAA>AAA	p.E773K	BRD1_uc011arf.1_Missense_Mutation_p.E368K|BRD1_uc011arg.1_Missense_Mutation_p.E822K|BRD1_uc011arh.1_Missense_Mutation_p.E773K|BRD1_uc003biu.3_Missense_Mutation_p.E773K	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	773					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCGTCCTCTTCGAAGCCTTCC	0.652												
PANX2	56666	broad.mit.edu	37	22	50615792	50615792	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50615792C>T	uc003bjn.3	+	2	651	c.651C>T	c.(649-651)CGC>CGT	p.R217R	PANX2_uc003bjp.3_Silent_p.R83R|PANX2_uc003bjo.3_Silent_p.R217R	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	217	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGAGCGCCGCGGCCGCAGCA	0.647												
PANX2	56666	broad.mit.edu	37	22	50617461	50617461	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50617461G>A	uc003bjn.3	+	3	1789	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	PANX2_uc003bjp.3_Missense_Mutation_p.A463T|PANX2_uc003bjo.3_Missense_Mutation_p.A597T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	597	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ACCTCCCGCCGCCCCTGCTGT	0.692												
SBF1	6305	broad.mit.edu	37	22	50885994	50885994	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:50885994G>T	uc003blh.2	-	39	5603	c.5408C>A	c.(5407-5409)CCT>CAT	p.P1803H	SBF1_uc003ble.2_Missense_Mutation_p.P267H|SBF1_uc003blf.2_Missense_Mutation_p.P279H|SBF1_uc011arx.1_Missense_Mutation_p.P1441H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1777	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTTCCAAGGCTTCATGAA	0.632												
SUMF1	285362	broad.mit.edu	37	3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:4452611C>T	uc003bpz.1	-	7	917	c.892G>A	c.(892-894)GCA>ACA	p.A298T	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.A273T|SUMF1_uc010hby.1_Missense_Mutation_p.A298T|SUMF1_uc011ast.1_Missense_Mutation_p.A166T	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	298		Calcium 2; via carbonyl oxygen.				endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423												
ITPR1	3708	broad.mit.edu	37	3	4683889	4683889	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:4683889G>T	uc003bqa.2	+	7	827	c.479G>T	c.(478-480)TGG>TTG	p.W160L	ITPR1_uc010hbz.2_Missense_Mutation_p.W160L|ITPR1_uc010hca.1_Missense_Mutation_p.W160L|ITPR1_uc011asu.1_Missense_Mutation_p.W160L|ITPR1_uc010hcb.1_Missense_Mutation_p.W160L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	160	MIR 1.|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)		GAAGGGTCCTGGTTTTATATT	0.453												
ITPR1	3708	broad.mit.edu	37	3	4821278	4821278	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:4821278C>T	uc003bqa.2	+	46	6540	c.6192C>T	c.(6190-6192)CAC>CAT	p.H2064H	ITPR1_uc010hca.1_Silent_p.H2049H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Silent_p.H1034H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2112	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)		AAAGCAGGCACGACAGTGAAA	0.537												
EDEM1	9695	broad.mit.edu	37	3	5255177	5255177	+	Silent	SNP	T	T	C	rs142859843	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:5255177T>C	uc003bqi.2	+	11	1986	c.1854T>C	c.(1852-1854)CAT>CAC	p.H618H		NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	618	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CGAAACCTCATGAGTTAAAAG	0.468												
GRM7	2917	broad.mit.edu	37	3	7721878	7721878	+	Missense_Mutation	SNP	C	C	T	rs55716077		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:7721878C>T	uc003bqm.2	+	9	2868	c.2594C>T	c.(2593-2595)GCG>GTG	p.A865V	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A865V|GRM7_uc003bql.2_Missense_Mutation_p.A865V|GRM7_uc003bqn.1_Missense_Mutation_p.A448V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	865	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	AGCTTCAAGGCGGTAGTCACA	0.522												
IRAK2	3656	broad.mit.edu	37	3	10276206	10276206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:10276206G>A	uc003bve.1	+	11	1412	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	446	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						GAAGACGGGCGTGGAGAACGT	0.612												
IQSEC1	9922	broad.mit.edu	37	3	12977013	12977013	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:12977013C>T	uc003bxt.2	-	3	1554	c.1545G>A	c.(1543-1545)TCG>TCA	p.S515S	IQSEC1_uc003bxu.3_Silent_p.S393S|IQSEC1_uc011auw.1_Silent_p.S501S	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	515					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TAAAGGCAGGCGAGTCCCAGC	0.607												
OSBPL10	114884	broad.mit.edu	37	3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:31705656C>T	uc003cev.2	-	12	2546	c.2165G>A	c.(2164-2166)CGG>CAG	p.R722Q	OSBPL10_uc003ceu.1_Missense_Mutation_p.R479Q|OSBPL10_uc011axf.1_Missense_Mutation_p.R658Q	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	722					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602												
VILL	50853	broad.mit.edu	37	3	38039115	38039115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:38039115C>T	uc003chj.2	+	7	989	c.703C>T	c.(703-705)CGT>TGT	p.R235C	VILL_uc003chk.1_Missense_Mutation_p.R235C|VILL_uc003chl.2_Missense_Mutation_p.R235C|VILL_uc010hgu.2_Missense_Mutation_p.R65C	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	235					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGCAGCCTGCGTGCCGCCAC	0.632												
ACVR2B	93	broad.mit.edu	37	3	38524694	38524694	+	Silent	SNP	C	C	T	rs141985115	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:38524694C>T	uc003cif.2	+	11	1434	c.1410C>T	c.(1408-1410)TCC>TCT	p.S470S	ACVR2B_uc003cig.2_Silent_p.S261S	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	470	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTCGCTTGTCCGCGGGCTGTG	0.597												
ZNF620	253639	broad.mit.edu	37	3	40557930	40557930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:40557930G>A	uc003ckk.2	+	5	994	c.845G>A	c.(844-846)TGT>TAT	p.C282Y	ZNF620_uc003ckl.2_Missense_Mutation_p.C168Y	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	282	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCTATGAATGTAAGGAGTGC	0.443												
TGM4	7047	broad.mit.edu	37	3	44929185	44929185	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:44929185G>A	uc003coc.3	+	3	271	c.198G>A	c.(196-198)CCG>CCA	p.P66P	TGM4_uc003coa.2_Silent_p.P66P|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	66					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)	CTCCAGGGCCGAATCCTAGCA	0.592												
CDCP1	64866	broad.mit.edu	37	3	45132792	45132792	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:45132792G>A	uc003com.2	-	7	2001	c.1866C>T	c.(1864-1866)GAC>GAT	p.D622D		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	622	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)		GCACATCCTCGTCCAGGCTGA	0.592												
CCR9	10803	broad.mit.edu	37	3	45942873	45942873	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:45942873G>A	uc003coz.1	+	3	750	c.593G>A	c.(592-594)TGC>TAC	p.C198Y	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.C186Y|CCR9_uc003cpa.1_Missense_Mutation_p.C186Y	NM_031200	NP_112477	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9 isoform A	198	Extracellular (Potential).				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				ovary(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATTGCTATCTGCACCATGGTT	0.488												
LAMB2	3913	broad.mit.edu	37	3	49168514	49168514	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:49168514G>T	uc003cwe.2	-	7	1083	c.784C>A	c.(784-786)CCA>ACA	p.P262T	LAMB2_uc003cwf.1_Missense_Mutation_p.P262T	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	262	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCTCCGTGGGTCGAGTAGG	0.577												
RBM6	10180	broad.mit.edu	37	3	50099450	50099450	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:50099450A>G	uc003cyc.2	+	15	2628	c.2495A>G	c.(2494-2496)GAA>GGA	p.E832G	RBM6_uc010hlc.1_Missense_Mutation_p.E351G|RBM6_uc003cyd.2_Missense_Mutation_p.E310G|RBM6_uc003cye.2_Missense_Mutation_p.E310G|RBM6_uc011bdi.1_Missense_Mutation_p.E174G|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	832					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGATCAAGGAAAAAAAACCC	0.428												
DOCK3	1795	broad.mit.edu	37	3	51101994	51101994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:51101994G>A	uc011bds.1	+	6	454	c.431G>A	c.(430-432)CGG>CAG	p.R144Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	144						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGGTTAAGCGGCACATCACC	0.463												
PCBP4	57060	broad.mit.edu	37	3	51993974	51993974	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:51993974C>T	uc003dcd.1	-	6	849	c.453G>A	c.(451-453)ACG>ACA	p.T151T	PCBP4_uc003dcb.1_Silent_p.T117T|PCBP4_uc003dcc.1_Silent_p.T172T|PCBP4_uc003dce.1_Silent_p.T151T|PCBP4_uc003dcf.1_Silent_p.T151T|PCBP4_uc003dcg.1_Silent_p.T117T|PCBP4_uc003dch.1_Silent_p.T151T|PCBP4_uc003dci.1_Intron|PCBP4_uc003dcj.1_Silent_p.T151T|PCBP4_uc003dck.1_Intron|PCBP4_uc003dcl.1_Silent_p.T151T	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	151	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCCAGATACCGTAACAGCTC	0.617												
POC1A	25886	broad.mit.edu	37	3	52183364	52183364	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52183364A>G	uc003dcu.2	-	4	635	c.317T>C	c.(316-318)GTG>GCG	p.V106A	POC1A_uc003dcv.2_Missense_Mutation_p.V68A|POC1A_uc003dcw.2_Missense_Mutation_p.V106A	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	106	WD 3.					centriole|microtubule basal body					0						GACACTCCTCACTGTGGCTGT	0.512												
NISCH	11188	broad.mit.edu	37	3	52521807	52521807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52521807G>A	uc011beg.1	+	17	2371	c.2299G>A	c.(2299-2301)GAC>AAC	p.D767N	NISCH_uc003ded.3_Missense_Mutation_p.D767N|NISCH_uc003dee.3_Missense_Mutation_p.D256N|NISCH_uc003deg.1_RNA	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	767	Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity).				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)		CCCGCATGGCGACCTCACCGA	0.597												
NISCH	11188	broad.mit.edu	37	3	52522496	52522496	+	Silent	SNP	C	C	T	rs144542629		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52522496C>T	uc011beg.1	+	17	3060	c.2988C>T	c.(2986-2988)CGC>CGT	p.R996R	NISCH_uc003ded.3_Silent_p.R996R|NISCH_uc003dee.3_Silent_p.R485R|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	996					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)		ACTTCCTGCGCGTCTACAACC	0.647												
PBRM1	55193	broad.mit.edu	37	3	52702537	52702537	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52702537T>A	uc003des.2	-	3	373	c.361A>T	c.(361-363)AAC>TAC	p.N121Y	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N121Y|PBRM1_uc003der.2_Missense_Mutation_p.N121Y|PBRM1_uc003det.2_Missense_Mutation_p.N121Y|PBRM1_uc003deu.2_Missense_Mutation_p.N121Y|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N121Y|PBRM1_uc010hmk.1_Missense_Mutation_p.N121Y|PBRM1_uc003dey.2_Missense_Mutation_p.N121Y|PBRM1_uc003dez.1_Missense_Mutation_p.N121Y|PBRM1_uc003dfb.1_Missense_Mutation_p.N19Y	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	121	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.N121fs*7(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTGCATTGTTAAAAAGAAGC	0.289			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
PBRM1	55193	broad.mit.edu	37	3	52702554	52702554	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:52702554T>A	uc003des.2	-	3	356	c.344A>T	c.(343-345)GAC>GTC	p.D115V	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.D115V|PBRM1_uc003der.2_Missense_Mutation_p.D115V|PBRM1_uc003det.2_Missense_Mutation_p.D115V|PBRM1_uc003deu.2_Missense_Mutation_p.D115V|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.D115V|PBRM1_uc010hmk.1_Missense_Mutation_p.D115V|PBRM1_uc003dey.2_Missense_Mutation_p.D115V|PBRM1_uc003dez.1_Missense_Mutation_p.D115V|PBRM1_uc003dfb.1_Missense_Mutation_p.D13V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	115	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGCTGGAAGTCAGCAGTCAG	0.318			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
CACNA1D	776	broad.mit.edu	37	3	53736702	53736702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:53736702C>T	uc003dgv.3	+	9	1418	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	CACNA1D_uc003dgu.3_Missense_Mutation_p.R419W|CACNA1D_uc003dgy.3_Missense_Mutation_p.R419W|CACNA1D_uc003dgw.3_Missense_Mutation_p.R66W	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	419	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCAAAAGCACGGGGAGATTT	0.522												
MAGI1	9223	broad.mit.edu	37	3	65387114	65387114	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:65387114C>T	uc003dmn.2	-	13	2725	c.2199G>A	c.(2197-2199)TCG>TCA	p.S733S	MAGI1_uc003dmm.2_Silent_p.S733S|MAGI1_uc003dmo.2_Silent_p.S733S|MAGI1_uc003dmp.2_Silent_p.S733S|MAGI1_uc010hnx.1_Intron	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	733					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAGTCCTTACCGACTTTGGGC	0.502												
COL8A1	1295	broad.mit.edu	37	3	99514770	99514770	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:99514770G>T	uc003dtg.1	+	5	2270	c.2025G>T	c.(2023-2025)TGG>TGT	p.W675C	COL8A1_uc003dth.1_Missense_Mutation_p.W675C|COL8A1_uc003dti.1_Missense_Mutation_p.W676C	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	675	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						GCAACGTGTGGGTTGCTCTAT	0.542												
GPR128	84873	broad.mit.edu	37	3	100413765	100413765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:100413765C>T	uc003duc.2	+	16	2582	c.2314C>T	c.(2314-2316)CGC>TGC	p.R772C	GPR128_uc011bhc.1_Missense_Mutation_p.R473C|GPR128_uc003dud.2_Missense_Mutation_p.R295C	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	772	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						CTTACATGAACGCTTTAGGCT	0.453												
IMPG2	50939	broad.mit.edu	37	3	101038523	101038523	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:101038523C>T	uc003duq.1	-	2	442	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	IMPG2_uc011bhe.1_5'UTR	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	80	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AATAGATCTCCGCCTTCTGAT	0.433												
ZNF80	7634	broad.mit.edu	37	3	113955576	113955576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:113955576G>A	uc010hqo.2	-	1	850	c.346C>T	c.(346-348)CGC>TGC	p.R116C	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	116	C2H2-type 3; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGCGACCTGCGGTTGAAGACC	0.537												
ZBTB20	26137	broad.mit.edu	37	3	114069871	114069871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:114069871C>T	uc003ebi.2	-	4	1234	c.1054G>A	c.(1054-1056)GAA>AAA	p.E352K	ZBTB20_uc003ebj.2_Missense_Mutation_p.E279K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E279K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E279K|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	352					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)		TCCTCGGATTCGTTGCGTTCC	0.587												
POLQ	10721	broad.mit.edu	37	3	121200437	121200437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:121200437G>A	uc003eee.3	-	19	6322	c.6193C>T	c.(6193-6195)CAG>TAG	p.Q2065*	POLQ_uc003eed.2_Nonsense_Mutation_p.Q1237*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2065					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)		TTTTCCTTCTGCAACAAAGAG	0.393								DNA_polymerases_(catalytic_subunits)				
GOLGB1	2804	broad.mit.edu	37	3	121415133	121415133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:121415133C>T	uc003eei.3	-	13	4348	c.4222G>A	c.(4222-4224)GTT>ATT	p.V1408I	GOLGB1_uc010hrc.2_Missense_Mutation_p.V1413I|GOLGB1_uc003eej.3_Missense_Mutation_p.V1374I|GOLGB1_uc011bjm.1_Missense_Mutation_p.V1294I|GOLGB1_uc010hrd.1_Missense_Mutation_p.V1372I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1408	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)		AGGTAGCTAACGTCTTCTTCC	0.383												
MCM2	4171	broad.mit.edu	37	3	127335840	127335840	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:127335840C>T	uc003ejp.2	+	10	1709	c.1652C>T	c.(1651-1653)GCG>GTG	p.A551V	MCM2_uc011bkm.1_Missense_Mutation_p.A421V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.A504V	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	551	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGCCAGGGGGCGTCGGCTGTG	0.617												
TMCC1	23023	broad.mit.edu	37	3	129389916	129389916	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:129389916G>A	uc003emz.3	-	5	1269	c.768C>T	c.(766-768)GAC>GAT	p.D256D	TMCC1_uc003emy.3_Translation_Start_Site|TMCC1_uc011blc.1_Silent_p.D77D|TMCC1_uc010htg.2_Silent_p.D142D	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	256	Potential.					integral to membrane				skin(1)	1						CAACGTTGTCGTCCCGGGCTG	0.512												
A4GNT	51146	broad.mit.edu	37	3	137843319	137843319	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:137843319G>A	uc003ers.2	-	3	1012	c.810C>T	c.(808-810)CGC>CGT	p.R270R		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	270	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						CTTCATAGTAGCGCCTCCACT	0.498												
HLTF	6596	broad.mit.edu	37	3	148802525	148802525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:148802525C>T	uc003ewq.1	-	2	390	c.172G>A	c.(172-174)GTT>ATT	p.V58I	HLTF_uc003ewr.1_Missense_Mutation_p.V58I|HLTF_uc003ews.1_Missense_Mutation_p.V58I|HLTF_uc010hve.1_Missense_Mutation_p.V58I	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	58					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCAAATAAAACGGAATCTACT	0.363												
HPS3	84343	broad.mit.edu	37	3	148872966	148872966	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:148872966G>A	uc003ewu.1	+	8	1613	c.1473G>A	c.(1471-1473)GTG>GTA	p.V491V	HPS3_uc011bnq.1_Silent_p.V326V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	491						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTATATTGTGAATACGATCT	0.343									Hermansky-Pudlak_syndrome			
SIAH2	6478	broad.mit.edu	37	3	150460061	150460061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:150460061C>T	uc003eyi.2	-	2	1469	c.842G>A	c.(841-843)CGT>CAT	p.R281H		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	281	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGAATCGAACGGGGCGTGGC	0.547												
MED12L	116931	broad.mit.edu	37	3	151082765	151082765	+	Splice_Site	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:151082765A>C	uc003eyp.2	+	20	2891	c.2853_splice	c.e20-2	p.S951_splice	MED12L_uc011bnz.1_Splice_Site_p.S811_splice|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTATAACCTCAGTAGTGCCTG	0.318												
SI	6476	broad.mit.edu	37	3	164716334	164716334	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:164716334T>A	uc003fei.2	-	38	4596	c.4534A>T	c.(4534-4536)ATC>TTC	p.I1512F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1512	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTACCAATGATTGATTTGTCC	0.398										HNSCC(35;0.089)		
SLC7A14	57709	broad.mit.edu	37	3	170185060	170185060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:170185060T>C	uc003fgz.2	-	8	2415	c.2099A>G	c.(2098-2100)GAC>GGC	p.D700G	CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	700						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)			TGAGAAGGGGTCATCCACGTC	0.557												
SLC7A14	57709	broad.mit.edu	37	3	170201151	170201151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:170201151G>A	uc003fgz.2	-	6	1383	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	356	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)			CCTCGGCATCGGGAAGAGGGA	0.542											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USP13	8975	broad.mit.edu	37	3	179459997	179459997	+	Missense_Mutation	SNP	G	G	A	rs61750381		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:179459997G>A	uc003fkh.2	+	12	1474	c.1393G>A	c.(1393-1395)GGC>AGC	p.G465S	USP13_uc003fkf.2_Missense_Mutation_p.G465S	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	465					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAACCGCATCGGCTCAGAAAA	0.443												
FXR1	8087	broad.mit.edu	37	3	180666221	180666221	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:180666221A>G	uc003fkq.2	+	5	379	c.357A>G	c.(355-357)AAA>AAG	p.K119K	FXR1_uc003fkp.2_Silent_p.K34K|FXR1_uc003fkr.2_Silent_p.K119K|FXR1_uc011bqj.1_Silent_p.K33K|FXR1_uc003fks.2_Silent_p.K33K|FXR1_uc011bqk.1_Silent_p.K70K|FXR1_uc011bql.1_Silent_p.K106K	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	119					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATCAAAATAAAACTGTCAAAA	0.333												
HTR3E	285242	broad.mit.edu	37	3	183822019	183822019	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:183822019T>C	uc010hxq.2	+	4	795	c.329T>C	c.(328-330)ATC>ACC	p.I110T	HTR3E_uc003fml.3_Missense_Mutation_p.I95T|HTR3E_uc003fmm.2_Missense_Mutation_p.I125T|HTR3E_uc010hxr.2_Missense_Mutation_p.I110T|HTR3E_uc003fmn.2_Missense_Mutation_p.I110T	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	110	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGTGAGGGCATCACGAAGATG	0.498												
DVL3	1857	broad.mit.edu	37	3	183883972	183883972	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:183883972C>T	uc003fms.2	+	8	962	c.822C>T	c.(820-822)GGC>GGT	p.G274G	DVL3_uc011bqw.1_Silent_p.G274G|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Silent_p.G106G	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	274	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTGGTGACGGCGGCATCTACA	0.502												
EIF4G1	1981	broad.mit.edu	37	3	184035263	184035263	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:184035263G>T	uc003fnp.2	+	5	500	c.302G>T	c.(301-303)GGG>GTG	p.G101V	EIF4G1_uc003fno.1_Intron|EIF4G1_uc010hxw.1_Intron|EIF4G1_uc003fnt.2_Intron|EIF4G1_uc003fnq.2_Missense_Mutation_p.G14V|EIF4G1_uc003fnr.2_Intron|EIF4G1_uc010hxx.2_Missense_Mutation_p.G108V|EIF4G1_uc003fns.2_Missense_Mutation_p.G61V|EIF4G1_uc010hxy.2_Missense_Mutation_p.G108V|EIF4G1_uc010hxz.1_Missense_Mutation_p.G14V|EIF4G1_uc003fnv.3_Missense_Mutation_p.G101V|EIF4G1_uc003fnu.3_Missense_Mutation_p.G101V|EIF4G1_uc003fnw.2_Missense_Mutation_p.G108V|EIF4G1_uc003fnx.2_5'Flank|EIF4G1_uc003fny.3_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	101					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTCCCAGGGGGCCTACTAC	0.607												
EIF4G1	1981	broad.mit.edu	37	3	184040486	184040486	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:184040486A>G	uc003fnp.2	+	12	1961	c.1763A>G	c.(1762-1764)CAG>CGG	p.Q588R	EIF4G1_uc003fno.1_Missense_Mutation_p.Q529R|EIF4G1_uc010hxw.1_Missense_Mutation_p.Q424R|EIF4G1_uc003fnt.2_Missense_Mutation_p.Q299R|EIF4G1_uc003fnq.2_Missense_Mutation_p.Q501R|EIF4G1_uc003fnr.2_Missense_Mutation_p.Q424R|EIF4G1_uc010hxx.2_Missense_Mutation_p.Q595R|EIF4G1_uc003fns.2_Missense_Mutation_p.Q548R|EIF4G1_uc010hxy.2_Missense_Mutation_p.Q595R|EIF4G1_uc003fnv.3_Missense_Mutation_p.Q588R|EIF4G1_uc003fnu.3_Missense_Mutation_p.Q588R|EIF4G1_uc003fnw.2_Missense_Mutation_p.Q595R|EIF4G1_uc003fnx.2_Missense_Mutation_p.Q392R|EIF4G1_uc003fny.3_Missense_Mutation_p.Q392R|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	588	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGAACATCCAGCCCGGGGAA	0.498												
TPRG1	285386	broad.mit.edu	37	3	189038571	189038571	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:189038571C>T	uc003frv.1	+	11	2017	c.790C>T	c.(790-792)CTT>TTT	p.L264F	TPRG1_uc003frw.1_Missense_Mutation_p.L264F	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	264											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CCGCAACAAACTTGGCTATTC	0.413												
TP63	8626	broad.mit.edu	37	3	189349368	189349368	+	Splice_Site	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:189349368T>C	uc003fry.2	+	1	151	c.62_splice	c.e1+2	p.R21_splice	TP63_uc003frx.2_Splice_Site_p.R21_splice|TP63_uc003frz.2_Splice_Site_p.R21_splice|TP63_uc010hzc.1_Splice_Site_p.R21_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1						anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCCAGCGGTGAGTTTGAAT	0.408									Hay-Wells_syndrome	HNSCC(45;0.13)		
MUC4	4585	broad.mit.edu	37	3	195481147	195481147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:195481147C>T	uc011bto.1	-	20	15341	c.14881G>A	c.(14881-14883)GTT>ATT	p.V4961I	MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Missense_Mutation_p.V687I|MUC4_uc003fva.2_Missense_Mutation_p.V569I|MUC4_uc003fvb.2_Missense_Mutation_p.V605I|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Missense_Mutation_p.V605I|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Missense_Mutation_p.V569I|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Missense_Mutation_p.V653I|MUC4_uc011bti.1_Missense_Mutation_p.V653I|MUC4_uc011btj.1_Missense_Mutation_p.V830I|MUC4_uc011btk.1_Missense_Mutation_p.V569I|MUC4_uc011btl.1_Missense_Mutation_p.V598I|MUC4_uc011btm.1_Missense_Mutation_p.V778I|MUC4_uc011btn.1_Missense_Mutation_p.V569I|MUC4_uc003fvo.2_Missense_Mutation_p.V853I|MUC4_uc003fvp.2_Missense_Mutation_p.V802I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1846					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)		TTCCCAGGAACGCAGTGGACA	0.687												
LMLN	89782	broad.mit.edu	37	3	197751625	197751625	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:197751625T>C	uc011buo.1	+	14	1644	c.1622T>C	c.(1621-1623)CTG>CCG	p.L541P	LMLN_uc003fyt.2_Missense_Mutation_p.L526P|LMLN_uc010iar.2_Missense_Mutation_p.L578P|LMLN_uc010ias.2_Missense_Mutation_p.L489P|LMLN_uc003fyu.2_Missense_Mutation_p.L338P	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	541					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GAGAGGAAGCTGAGTTACCCA	0.373												
MFSD7	84179	broad.mit.edu	37	4	678306	678306	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:678306A>G	uc003gay.2	-	6	866	c.809T>C	c.(808-810)CTG>CCG	p.L270P	MFSD7_uc003gaw.2_Missense_Mutation_p.L12P|MFSD7_uc003gax.2_Missense_Mutation_p.L269P|MFSD7_uc003gaz.2_Missense_Mutation_p.L151P|MFSD7_uc003gba.2_Missense_Mutation_p.L173P|MFSD7_uc003gbb.1_Missense_Mutation_p.L205P	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	270	Helical; (Potential).				transmembrane transport	integral to membrane					0						GATCTGCTCCAGGAGGGCTGA	0.617											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCGF3	10336	broad.mit.edu	37	4	727522	727522	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:727522G>A	uc011bva.1	+	5	528	c.53G>A	c.(52-54)CGC>CAC	p.R18H	PCGF3_uc003gbc.1_RNA|PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.R18H|PCGF3_uc010ibh.2_Missense_Mutation_p.R18H|PCGF3_uc003gbg.1_5'Flank|PCGF3_uc003gbh.2_5'Flank	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	18	RING-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						ATCACCTGCCGCCTGTGCAGC	0.587												
HGFAC	3083	broad.mit.edu	37	4	3451076	3451076	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:3451076G>A	uc003ghc.2	+	14	1901	c.1898G>A	c.(1897-1899)CGC>CAC	p.R633H	HGFAC_uc010icw.2_Missense_Mutation_p.R640H	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	633	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCTACACCCGCGTGGCCAAC	0.672												
AFAP1	60312	broad.mit.edu	37	4	7776532	7776532	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:7776532G>A	uc003gkg.1	-	14	2017	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	AFAP1_uc011bwk.1_Missense_Mutation_p.R666W|LOC84740_uc003gkd.3_RNA	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	582	Potential.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						AGCCTATTCCGCAGGGCCTCT	0.562												
SH3TC1	54436	broad.mit.edu	37	4	8233879	8233879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:8233879G>A	uc003gkv.3	+	13	3228	c.3127G>A	c.(3127-3129)GAG>AAG	p.E1043K	SH3TC1_uc003gkw.3_Missense_Mutation_p.E967K|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1043	TPR 7.						binding			large_intestine(2)|pancreas(1)	3						CCTGGGCACCGAGCGGTGAGG	0.512												
LCORL	254251	broad.mit.edu	37	4	17847433	17847433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:17847433G>A	uc003gpq.2	-	7	879	c.868C>T	c.(868-870)CGT>TGT	p.R290C	LCORL_uc011bxk.1_3'UTR	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TCAATGGGACGATTAAGGCAC	0.398												
PCDH7	5099	broad.mit.edu	37	4	30724711	30724711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:30724711C>T	uc003gsk.1	+	1	2675	c.1667C>T	c.(1666-1668)ACG>ATG	p.T556M	PCDH7_uc011bxw.1_Missense_Mutation_p.T509M|PCDH7_uc011bxx.1_Missense_Mutation_p.T556M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	556	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AGGGTGGCCACGGTGCTGGCG	0.607												
KLB	152831	broad.mit.edu	37	4	39408583	39408583	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:39408583G>A	uc003gua.2	+	1	111	c.14G>A	c.(13-15)TGT>TAT	p.C5Y	KLB_uc011byj.1_Missense_Mutation_p.C5Y	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	5	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						AAGCCAGGCTGTGCGGCAGGA	0.443												
KLB	152831	broad.mit.edu	37	4	39448221	39448221	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:39448221C>T	uc003gua.2	+	4	1972	c.1875C>T	c.(1873-1875)TGC>TGT	p.C625C	KLB_uc011byj.1_Silent_p.C616C	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	625	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						ACTACAGGTGCGTGGTCAGTG	0.617												
NFXL1	152518	broad.mit.edu	37	4	47901013	47901013	+	Silent	SNP	A	A	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:47901013A>T	uc010igh.2	-	7	1128	c.951T>A	c.(949-951)CTT>CTA	p.L317L	NFXL1_uc003gxp.2_Silent_p.L317L|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.L317L	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	317						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						GTTGCCCACAAAGCAACTTCT	0.418												
SPATA18	132671	broad.mit.edu	37	4	52943184	52943184	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:52943184G>A	uc003gzl.2	+	7	1276	c.998G>A	c.(997-999)CGG>CAG	p.R333Q	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R301Q|SPATA18_uc003gzk.1_Missense_Mutation_p.R333Q	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	333					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACCGTTCAGCGGATCATCTAC	0.607												
PDGFRA	5156	broad.mit.edu	37	4	55138612	55138612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:55138612G>A	uc003han.3	+	9	1620	c.1289G>A	c.(1288-1290)GGA>GAA	p.G430E	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324E|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	430	Ig-like C2-type 5.|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)	TCAACTGGGGGACAGACGGTG	0.473			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
EXOC1	55763	broad.mit.edu	37	4	56736875	56736875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:56736875A>G	uc003hbe.1	+	6	793	c.635A>G	c.(634-636)AAA>AGA	p.K212R	EXOC1_uc003hbf.1_Missense_Mutation_p.K212R|EXOC1_uc003hbg.1_Missense_Mutation_p.K212R	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	212	Potential.				exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GCATCTGAAAAACAAGTCAAC	0.303												
EPHA5	2044	broad.mit.edu	37	4	66467570	66467570	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:66467570G>A	uc003hcy.2	-	3	892	c.699C>T	c.(697-699)TGC>TGT	p.C233C	EPHA5_uc003hcx.2_Silent_p.C164C|EPHA5_uc003hcz.2_Silent_p.C233C|EPHA5_uc011cah.1_Silent_p.C233C|EPHA5_uc011cai.1_Silent_p.C233C|EPHA5_uc003hda.2_Silent_p.C233C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	233	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCACAGAAGGGCATTTTTTAT	0.453										TSP Lung(17;0.13)		
TMPRSS11A	339967	broad.mit.edu	37	4	68784721	68784721	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:68784721T>C	uc003hdr.1	-	8	1052	c.931A>G	c.(931-933)ATC>GTC	p.I311V	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.I308V	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	311	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						AATCCTGTGATGTGGACAGTC	0.463												
UGT2B10	7365	broad.mit.edu	37	4	69885523	69885523	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:69885523C>A	uc011cao.1	-	4	602	c.466G>T	c.(466-468)GTA>TTA	p.V156L	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	193					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						ACAACAGGTACGTAGGAAGGA	0.388												
FRAS1	80144	broad.mit.edu	37	4	79373470	79373470	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:79373470A>C	uc003hlb.2	+	47	7165	c.6725A>C	c.(6724-6726)CAG>CCG	p.Q2242P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2241	CSPG 10.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ATCACCAGACAGCCCCAGCTG	0.468												
GRID2	2895	broad.mit.edu	37	4	94032058	94032058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:94032058C>T	uc011cdt.1	+	4	947	c.689C>T	c.(688-690)GCG>GTG	p.A230V	GRID2_uc010ikx.2_Missense_Mutation_p.A230V|GRID2_uc011cdu.1_Missense_Mutation_p.A135V|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	230	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTAGGCGAGCGATCCTTGTT	0.388												
PDLIM5	10611	broad.mit.edu	37	4	95539205	95539205	+	Missense_Mutation	SNP	G	G	A	rs115018620	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:95539205G>A	uc003hti.2	+	8	1122	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	PDLIM5_uc011cdx.1_Missense_Mutation_p.R221Q|PDLIM5_uc003hth.2_Missense_Mutation_p.R215Q|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.R353Q|PDLIM5_uc011cdy.1_Missense_Mutation_p.R202Q|PDLIM5_uc003htl.2_5'UTR	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	324					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GCTTCCACACGGAGCATGCCC	0.547												
NHEDC1	150159	broad.mit.edu	37	4	103822279	103822279	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:103822279G>T	uc003hww.2	-	12	1665	c.1543C>A	c.(1543-1545)CAT>AAT	p.H515N	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.H288N	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	515						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		ACTTTTTAATGATGTTCTAAT	0.363												
TET2	54790	broad.mit.edu	37	4	106157081	106157081	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:106157081A>G	uc003hxk.2	+	3	2368	c.1982A>G	c.(1981-1983)CAC>CGC	p.H661R	TET2_uc011cez.1_Missense_Mutation_p.H682R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.H661R|TET2_uc003hxi.1_Missense_Mutation_p.H661R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	661	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACCAGGTGCACTTCTCCAAA	0.433			Mis N|F		MDS							
CCDC109B	55013	broad.mit.edu	37	4	110606496	110606496	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:110606496C>T	uc011cfs.1	+	7	1045	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	302	Potential.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TGCAGCAATACAACAAGTTAA	0.358												
KIAA1109	84162	broad.mit.edu	37	4	123202741	123202741	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:123202741C>A	uc003ieh.2	+	50	8894	c.8849C>A	c.(8848-8850)ACC>AAC	p.T2950N	KIAA1109_uc003iel.1_Missense_Mutation_p.T885N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2950					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCTGAAAAAACCCCAACAAGT	0.358												
KIAA1109	84162	broad.mit.edu	37	4	123237962	123237962	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:123237962C>T	uc003ieh.2	+	60	10660	c.10615C>T	c.(10615-10617)CGT>TGT	p.R3539C	KIAA1109_uc003iel.1_Missense_Mutation_p.R1474C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3539					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AATTATGAAGCGTATAGTGGA	0.363												
TBC1D9	23158	broad.mit.edu	37	4	141543721	141543721	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:141543721G>A	uc010ioj.2	-	21	3701	c.3429C>T	c.(3427-3429)AAC>AAT	p.N1143N		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1143						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGCAGGCCCCGTTGTCCCGGG	0.637												
DCLK2	166614	broad.mit.edu	37	4	151000236	151000236	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:151000236G>A	uc003ilm.3	+	1	157	c.57G>A	c.(55-57)CCG>CCA	p.P19P	DCLK2_uc003iln.3_Silent_p.P19P|DCLK2_uc003ilo.3_Silent_p.P19P|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	19					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					ACAAAAGGCCGCGGCCGGGGT	0.706												
PET112L	5188	broad.mit.edu	37	4	152629223	152629223	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:152629223G>A	uc003iml.2	-	6	806	c.794C>T	c.(793-795)TCC>TTC	p.S265F	PET112L_uc003imm.3_Missense_Mutation_p.S265F	NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	265						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGATGCACGGATATATTGGC	0.498												
LRAT	9227	broad.mit.edu	37	4	155665737	155665737	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:155665737C>T	uc003iom.1	+	1	586	c.259C>T	c.(259-261)CGC>TGC	p.R87C	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R87C	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	87	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CGACATGGGGCGCACGCAGAA	0.602												
NPY2R	4887	broad.mit.edu	37	4	156135336	156135336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:156135336G>A	uc003ioq.2	+	2	740	c.245G>A	c.(244-246)CGC>CAC	p.R82H	NPY2R_uc003ior.2_Missense_Mutation_p.R82H	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	82	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGAGCATGCGCACAGTAACC	0.453												
GRIA2	2891	broad.mit.edu	37	4	158233993	158233993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:158233993G>A	uc003ipm.3	+	4	1091	c.632G>A	c.(631-633)TGT>TAT	p.C211Y	GRIA2_uc011cit.1_Missense_Mutation_p.C164Y|GRIA2_uc003ipl.3_Missense_Mutation_p.C211Y|GRIA2_uc003ipk.3_Missense_Mutation_p.C164Y|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	211	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)	ATTCTGGACTGTGAAAGGGAT	0.368												
FAM198B	51313	broad.mit.edu	37	4	159091771	159091771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159091771C>T	uc003ipp.3	-	2	1209	c.757G>A	c.(757-759)GCA>ACA	p.A253T	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.A253T|FAM198B_uc003ipr.3_Missense_Mutation_p.A253T|FAM198B_uc003ips.2_Missense_Mutation_p.A253T|uc003ipt.1_5'Flank	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	253	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GCGCCAGGTGCGCCCCCCTCC	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RXFP1	59350	broad.mit.edu	37	4	159493936	159493936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159493936C>T	uc003ipz.2	+	2	218	c.136C>T	c.(136-138)CAC>TAC	p.H46Y	RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.H46Y|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.H46Y|RXFP1_uc010iqm.2_Missense_Mutation_p.H46Y|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	46	Extracellular (Potential).|LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCAGCTCCTGCACTGTAACGG	0.552												
RXFP1	59350	broad.mit.edu	37	4	159526258	159526258	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159526258A>G	uc003ipz.2	+	5	513	c.431A>G	c.(430-432)GAT>GGT	p.D144G	RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_Missense_Mutation_p.D63G|RXFP1_uc010iqo.2_Missense_Mutation_p.D144G|RXFP1_uc011cjb.1_Missense_Mutation_p.D90G|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_Missense_Mutation_p.D63G|RXFP1_uc011cjd.1_Missense_Mutation_p.D63G|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.D171G|RXFP1_uc010iqm.2_Missense_Mutation_p.D111G|RXFP1_uc011cjf.1_Missense_Mutation_p.D14G|RXFP1_uc010iqn.2_Missense_Mutation_p.D90G	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	144	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTTCCTCCTGATTGCTTCAAG	0.294												
DDX60L	91351	broad.mit.edu	37	4	169336605	169336605	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:169336605A>C	uc003irq.3	-	22	3154	c.2933T>G	c.(2932-2934)GTT>GGT	p.V978G	DDX60L_uc003irr.1_Missense_Mutation_p.V978G|DDX60L_uc003irs.1_Missense_Mutation_p.V673G	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	978							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)		ATCAAAATAAACATCATCATG	0.333												
ADAM29	11086	broad.mit.edu	37	4	175898136	175898136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:175898136G>A	uc003iuc.2	+	5	2130	c.1460G>A	c.(1459-1461)TGT>TAT	p.C487Y	ADAM29_uc003iud.2_Missense_Mutation_p.C487Y|ADAM29_uc010irr.2_Missense_Mutation_p.C487Y|ADAM29_uc011cki.1_Missense_Mutation_p.C487Y	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	487	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGAATTCCCTGTAAGGAGAGG	0.463												
ODZ3	55714	broad.mit.edu	37	4	183267894	183267894	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:183267894G>T	uc003ivd.1	+	2	360	c.323G>T	c.(322-324)AGA>ATA	p.R108I	ODZ3_uc010irv.1_Missense_Mutation_p.R108I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	108	Cytoplasmic (Potential).|Teneurin N-terminal.				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)		CTCCCTCACAGAGGTTACTCT	0.493												
STOX2	56977	broad.mit.edu	37	4	184930580	184930580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:184930580G>A	uc003ivz.1	+	3	2024	c.589G>A	c.(589-591)GAC>AAC	p.D197N	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	197					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAACCACTGCGACTCTTGCCA	0.597												
ZFP42	132625	broad.mit.edu	37	4	188924176	188924176	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:188924176A>G	uc003izg.1	+	3	460	c.215A>G	c.(214-216)TAC>TGC	p.Y72C	ZFP42_uc003izh.1_Missense_Mutation_p.Y72C|ZFP42_uc003izi.1_Missense_Mutation_p.Y72C	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	72					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGACTGTTACATAGAATGC	0.483												
TRIML1	339976	broad.mit.edu	37	4	189068025	189068025	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:189068025G>A	uc003izm.1	+	6	1021	c.906G>A	c.(904-906)TCG>TCA	p.S302S	TRIML1_uc003izn.1_Silent_p.S26S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	302	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCGTGTTGTCGGAGGATCTGA	0.517												
CEP72	55722	broad.mit.edu	37	5	634017	634017	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:634017A>G	uc003jbf.2	+	5	718	c.646A>G	c.(646-648)AGC>GGC	p.S216G	CEP72_uc011clz.1_Intron	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	216					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGGGAGCACGAGCTTCAGCCA	0.627												
ADAMTS16	170690	broad.mit.edu	37	5	5232586	5232586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:5232586G>A	uc003jdl.2	+	12	1945	c.1807G>A	c.(1807-1809)GGA>AGA	p.G603R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G603R|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	603	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CAGGACCTGCGGAGGGGGAGT	0.567												
ADAMTS16	170690	broad.mit.edu	37	5	5303727	5303727	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:5303727G>A	uc003jdl.2	+	20	3172	c.3034G>A	c.(3034-3036)GCC>ACC	p.A1012T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A1012T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1012	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCGGGCAGTGGCCTGTAAGAG	0.612												
ADAMTS16	170690	broad.mit.edu	37	5	5306762	5306762	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:5306762C>T	uc003jdl.2	+	21	3470	c.3332C>T	c.(3331-3333)CCG>CTG	p.P1111L		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1111	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCCTGCGCCCCGCTTCCATGC	0.612												
SEMA5A	9037	broad.mit.edu	37	5	9122806	9122806	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:9122806C>T	uc003jek.2	-	14	2455	c.1743G>A	c.(1741-1743)CAG>CAA	p.Q581Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	581	Extracellular (Potential).|TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGCCCTCGCACTGCCAGCCAC	0.627												
DNAH5	1767	broad.mit.edu	37	5	13729585	13729585	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:13729585A>C	uc003jfd.2	-	69	11888	c.11846T>G	c.(11845-11847)CTT>CGT	p.L3949R	DNAH5_uc003jfc.2_Missense_Mutation_p.L117R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3949					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)					GAGTTTGCTAAGTTCCACCAA	0.383									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14498708	14498708	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:14498708A>C	uc003jff.2	+	53	8297	c.8291A>C	c.(8290-8292)GAC>GCC	p.D2764A	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2764	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GCTGTCAATGACATGGGTTCA	0.582												
C5orf42	65250	broad.mit.edu	37	5	37183092	37183092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:37183092C>A	uc011cpa.1	-	26	5422	c.5191G>T	c.(5191-5193)GAA>TAA	p.E1731*	C5orf42_uc011coy.1_Nonsense_Mutation_p.E232*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.E806*|C5orf42_uc011cpb.1_Nonsense_Mutation_p.E612*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1731										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGAAGATCTTCTTGAGGGTTA	0.373												
RICTOR	253260	broad.mit.edu	37	5	38960545	38960545	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:38960545C>T	uc003jlp.2	-	20	1830	c.1806G>A	c.(1804-1806)ACG>ACA	p.T602T	RICTOR_uc003jlo.2_Silent_p.T602T|RICTOR_uc010ivf.2_Silent_p.T317T	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	602					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AACCTACAACCGTGAGCTGTT	0.378												
MGC42105	167359	broad.mit.edu	37	5	43280418	43280418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:43280418C>T	uc003jno.2	+	4	1779	c.898C>T	c.(898-900)CGA>TGA	p.R300*		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	300	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						GCCCTGCCACCGACTCATCCG	0.557												
PDE4D	5144	broad.mit.edu	37	5	59284456	59284456	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:59284456C>T	uc003jsb.2	-	3	344	c.131G>A	c.(130-132)CGC>CAC	p.R44H	PDE4D_uc010iwj.1_Missense_Mutation_p.R44H|PDE4D_uc003jse.1_Missense_Mutation_p.R56H	NM_006203	NP_006194	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 2	Error:Variant_position_missing_in_Q08499_after_alignment					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CTGAATATTGCGACATGAAAG	0.483												
HTR1A	3350	broad.mit.edu	37	5	63257400	63257400	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:63257400G>A	uc011cqt.1	-	1	147	c.147C>T	c.(145-147)TGC>TGT	p.C49C		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	49	Helical; Name=1; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCAGCACCGCGCAGAAGATGA	0.607												
ZNF366	167465	broad.mit.edu	37	5	71756924	71756924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:71756924C>T	uc003kce.1	-	2	586	c.400G>A	c.(400-402)GTG>ATG	p.V134M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGAAGCCCACGTTGCACAGG	0.607												
GFM2	84340	broad.mit.edu	37	5	74034388	74034388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:74034388G>A	uc003kdh.1	-	13	1463	c.1159C>T	c.(1159-1161)CGC>TGC	p.R387C	GFM2_uc003kdi.1_Intron|GFM2_uc010izj.1_Missense_Mutation_p.R419C|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R387C	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	387					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GAGTAAATGCGCATAAAAACC	0.363												
COL4A3BP	10087	broad.mit.edu	37	5	74681746	74681746	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:74681746G>A	uc011csu.1	-	13	1820	c.1398C>T	c.(1396-1398)GAC>GAT	p.D466D	COL4A3BP_uc003kds.2_Silent_p.D440D|COL4A3BP_uc003kdt.2_Silent_p.D594D|COL4A3BP_uc003kdu.2_Silent_p.D466D	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	466	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CATTGCGAACGTCAACATTCC	0.333												
TTC37	9652	broad.mit.edu	37	5	94852450	94852450	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:94852450A>G	uc003klb.2	-	23	2711	c.2441T>C	c.(2440-2442)CTG>CCG	p.L814P		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	814	TPR 13.						binding			ovary(3)|pancreas(1)	4						TGCTTTTTTCAGACACTGAAA	0.318												
SLCO6A1	133482	broad.mit.edu	37	5	101834417	101834417	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:101834417G>A	uc003knn.2	-	1	304	c.132C>T	c.(130-132)CCC>CCT	p.P44P	SLCO6A1_uc003kno.2_Silent_p.P44P|SLCO6A1_uc003knp.2_Silent_p.P44P|SLCO6A1_uc003knq.2_Silent_p.P44P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	44	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTTTTTTCCCGGGCTTCGAGG	0.572												
MCC	4163	broad.mit.edu	37	5	112399732	112399732	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:112399732G>A	uc003kqj.3	-	12	2122	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.A721V|MCC_uc011cwb.1_Missense_Mutation_p.A531V	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	531					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCTGCAGCCGGCCACGGCAAA	0.627												
SLC12A2	6558	broad.mit.edu	37	5	127487003	127487003	+	Silent	SNP	A	A	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:127487003A>T	uc003kus.2	+	14	2342	c.2178A>T	c.(2176-2178)GTA>GTT	p.V726V	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.V726V	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	726	Helical; (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTGCATAGTAATGTTCGTCA	0.368												
ADAMTS19	171019	broad.mit.edu	37	5	129037216	129037216	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:129037216G>T	uc003kvb.1	+	20	3072	c.3072G>T	c.(3070-3072)AAG>AAT	p.K1024N	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1024	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTGGGCCCAAGCCCGCCTCTG	0.582												
PDLIM4	8572	broad.mit.edu	37	5	131606734	131606734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:131606734G>A	uc003kwn.2	+	4	531	c.454G>A	c.(454-456)GAG>AAG	p.E152K	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.E152K|PDLIM4_uc003kwo.2_Missense_Mutation_p.E152K	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	152							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGCAGCAGCGAGGCCACCCT	0.622												
RAD50	10111	broad.mit.edu	37	5	131973851	131973851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:131973851G>A	uc003kxi.2	+	23	3941	c.3554G>A	c.(3553-3555)CGA>CAA	p.R1185Q	RAD50_uc003kxh.2_Missense_Mutation_p.R1046Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1185					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATAACTACCGAGTGGTGATG	0.453								Homologous_recombination				
KIF3A	11127	broad.mit.edu	37	5	132061858	132061858	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:132061858G>A	uc003kxo.2	-	4	626	c.472C>T	c.(472-474)CGT>TGT	p.R158C	KIF3A_uc003kxn.2_Missense_Mutation_p.R117C|KIF3A_uc011cxf.1_Missense_Mutation_p.R158C|KIF3A_uc003kxp.2_Missense_Mutation_p.R158C	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	158	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGGTCACGAACTTCTTCA	0.303												
TRPC7	57113	broad.mit.edu	37	5	135567162	135567162	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:135567162G>A	uc003lbn.1	-	7	1920	c.1917C>T	c.(1915-1917)TAC>TAT	p.Y639Y	TRPC7_uc010jef.1_Silent_p.Y576Y|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.Y570Y|TRPC7_uc010jei.1_Silent_p.Y515Y|TRPC7_uc010jej.1_Silent_p.Y191Y	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	640	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)			ATTTGTGGTCGTATTTCAGCA	0.403												
GFRA3	2676	broad.mit.edu	37	5	137599951	137599951	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:137599951A>G	uc003lcn.2	-	2	518	c.378T>C	c.(376-378)CTT>CTC	p.L126L	GFRA3_uc003lco.2_Silent_p.L126L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	126					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGCCTCACCAAGGCTGCGGG	0.537												
GFRA3	2676	broad.mit.edu	37	5	137599991	137599991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:137599991C>T	uc003lcn.2	-	2	478	c.338G>A	c.(337-339)TGC>TAC	p.C113Y	GFRA3_uc003lco.2_Missense_Mutation_p.C113Y	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	113					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATGTCCAAGCAGGCAACCTG	0.572												
KDM3B	51780	broad.mit.edu	37	5	137708479	137708479	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:137708479C>T	uc003lcy.1	+	2	509	c.309C>T	c.(307-309)GAC>GAT	p.D103D	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	103					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CCCGTGAGGACCCAGTCCTTC	0.522												
PCDHA7	56141	broad.mit.edu	37	5	140215698	140215698	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140215698T>C	uc003lhq.2	+	1	1730	c.1730T>C	c.(1729-1731)GTG>GCG	p.V577A	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_uc011dac.1_Missense_Mutation_p.V577A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	577	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGCAGTGAGAGAGCTT	0.652												
PCDHA8	56140	broad.mit.edu	37	5	140222458	140222458	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140222458T>C	uc003lhs.2	+	1	1552	c.1552T>C	c.(1552-1554)TAC>CAC	p.Y518H	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_uc003lhr.1_Missense_Mutation_p.Y518H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	518	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAAGGTGTACGCGCTGCA	0.682												
PCDHA11	56138	broad.mit.edu	37	5	140249249	140249249	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140249249G>A	uc003lia.2	+	1	1419	c.561G>A	c.(559-561)AAG>AAA	p.K187K	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_uc011dae.1_Silent_p.K187K	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	187	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGGTAAGCAGATTAAAA	0.383												
PCDHA12	56137	broad.mit.edu	37	5	140256404	140256404	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140256404C>T	uc003lic.2	+	1	1474	c.1347C>T	c.(1345-1347)AAC>AAT	p.N449N	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_Silent_p.N449N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	449	Cadherin 4.|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)			CCGACGTGAACGACAATGCGC	0.657												
PCDHA12	56137	broad.mit.edu	37	5	140257030	140257030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140257030C>T	uc003lic.2	+	1	2100	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V	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.A658V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	658	Cadherin 6.|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)			GGTGAGCCCGCGCTGACGTCC	0.692												
PCDHAC2	56134	broad.mit.edu	37	5	140346798	140346798	+	Silent	SNP	G	G	A	rs139717123		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140346798G>A	uc003lii.2	+	1	687	c.447G>A	c.(445-447)CCG>CCA	p.P149P	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_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.P149P	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	149	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGTTTCCCGCGGCCCAACT	0.617												
PCDHB2	56133	broad.mit.edu	37	5	140474496	140474496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140474496C>T	uc003lil.2	+	1	260	c.122C>T	c.(121-123)ACG>ATG	p.T41M	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	41	Extracellular (Potential).|Cadherin 1.				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)			GCCGAGGAAACGGAGAGTGGC	0.512												
PCDHB3	56132	broad.mit.edu	37	5	140480564	140480564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140480564C>T	uc003lio.2	+	1	331	c.331C>T	c.(331-333)CAA>TAA	p.Q111*	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	111	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATATTACTGCAAAACCCTTT	0.418												
PCDHB3	56132	broad.mit.edu	37	5	140482112	140482112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140482112G>A	uc003lio.2	+	1	1879	c.1879G>A	c.(1879-1881)GCC>ACC	p.A627T	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	627	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGCGCACCGCCAGGCTGCT	0.701												
PCDHB16	57717	broad.mit.edu	37	5	140564388	140564388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140564388G>A	uc003liv.2	+	1	3409	c.2254G>A	c.(2254-2256)GAG>AAG	p.E752K	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	752	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAATACGAGGTGTGTCT	0.572												
PCDHB11	56125	broad.mit.edu	37	5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140580935C>T	uc003liy.2	+	1	1588	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C	PCDHB11_uc011daj.1_Missense_Mutation_p.R165C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672												
PCDHB12	56124	broad.mit.edu	37	5	140590609	140590609	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140590609G>A	uc003liz.2	+	1	2319	c.2130G>A	c.(2128-2130)GCG>GCA	p.A710A	PCDHB12_uc011dak.1_Silent_p.A373A|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	710	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.692												
PCDHGB3	56102	broad.mit.edu	37	5	140751609	140751609	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140751609G>A	uc003ljw.1	+	1	1648	c.1648G>A	c.(1648-1650)GTG>ATG	p.V550M	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V550M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	550	Extracellular (Potential).|Cadherin 5.				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)			GAGCCTGCGCGTGTTGGTGGA	0.667												
PCDHGA7	56108	broad.mit.edu	37	5	140764749	140764749	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140764749G>A	uc003lka.1	+	1	2283	c.2283G>A	c.(2281-2283)GCG>GCA	p.A761A	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|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.A761A|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	761	Cytoplasmic (Potential).				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)			CCCTCACCGCGGACTCTCGGA	0.557												
PCDHGA9	56107	broad.mit.edu	37	5	140783914	140783914	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140783914C>T	uc003lkh.1	+	1	1395	c.1395C>T	c.(1393-1395)AAC>AAT	p.N465N	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_uc011dax.1_Silent_p.N465N	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	465	Extracellular (Potential).|Cadherin 5.				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)			CGGAAAACAACGCCAGAGGTA	0.463												
PCDHGC5	56097	broad.mit.edu	37	5	140870540	140870540	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140870540G>A	uc003lla.1	+	1	1733	c.1733G>A	c.(1732-1734)CGT>CAT	p.R578H	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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.R578H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	578	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCCCAGCGTCTCCCTCGC	0.587												
FBXO38	81545	broad.mit.edu	37	5	147778563	147778563	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:147778563T>C	uc003lpf.1	+	3	250	c.130T>C	c.(130-132)TAC>CAC	p.Y44H	FBXO38_uc003lpg.1_Missense_Mutation_p.Y44H|FBXO38_uc003lph.2_Missense_Mutation_p.Y44H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	44	F-box.					cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACAAAGGTACCTCCCTCT	0.403												
GLRA1	2741	broad.mit.edu	37	5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:151239373C>T	uc003lut.2	-	4	736	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	GLRA1_uc003lur.2_Missense_Mutation_p.R150Q|GLRA1_uc003lus.2_Missense_Mutation_p.R67Q	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	150	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522												
RNF145	153830	broad.mit.edu	37	5	158586021	158586021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:158586021G>A	uc003lxp.2	-	11	1962	c.1649C>T	c.(1648-1650)ACG>ATG	p.T550M	RNF145_uc011ddy.1_Missense_Mutation_p.T564M|RNF145_uc003lxo.1_Missense_Mutation_p.T578M|RNF145_uc011ddz.1_Missense_Mutation_p.T567M|RNF145_uc010jiq.1_Missense_Mutation_p.T580M	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	550	RING-type; atypical.					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGCAAGGCGTGATCACAGC	0.448												
CCNJL	79616	broad.mit.edu	37	5	159686753	159686753	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:159686753G>A	uc003lyb.1	-	5	702	c.450C>T	c.(448-450)CAC>CAT	p.H150H	CCNJL_uc011dee.1_Silent_p.H102H|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Silent_p.H102H	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	150	Cyclin N-terminal.					nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTGGGGACGTGGTCTTCCC	0.562												
STK10	6793	broad.mit.edu	37	5	171488254	171488254	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:171488254T>G	uc003mbo.1	-	14	2401	c.2101A>C	c.(2101-2103)AAG>CAG	p.K701Q		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	701	Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTTCTGCTTGGCTACAAAG	0.577												
SH3PXD2B	285590	broad.mit.edu	37	5	171821626	171821626	+	Nonsense_Mutation	SNP	G	G	A	rs61755907		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:171821626G>A	uc003mbr.2	-	4	421	c.250C>T	c.(250-252)CGA>TGA	p.R84*	SH3PXD2B_uc003mbs.1_Nonsense_Mutation_p.R84*	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	84	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGTGGCTTCGTCTGAAGAGA	0.512												
DUSP1	1843	broad.mit.edu	37	5	172195896	172195896	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:172195896C>T	uc003mbv.1	-	4	1221	c.973G>A	c.(973-975)GCC>ACC	p.A325T	DUSP1_uc011dez.1_Missense_Mutation_p.A183T|DUSP1_uc003mbu.1_Missense_Mutation_p.A213T	NM_004417	NP_004408	P28562	DUS1_HUMAN	dual specificity phosphatase 1	325	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			breast(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		ACAGCCATGGCGGGGCTCCCA	0.617												
CLTB	1212	broad.mit.edu	37	5	175824994	175824994	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:175824994T>C	uc003meh.2	-	4	464	c.289A>G	c.(289-291)ACC>GCC	p.T97A	CLTB_uc003mei.2_Missense_Mutation_p.T97A|CLTB_uc011dfn.1_RNA	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	97	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GGCTCCTGGGTCAGCCTGTCA	0.647												
HNRNPH1	3187	broad.mit.edu	37	5	179045188	179045188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179045188C>A	uc003mkf.3	-	6	779	c.673G>T	c.(673-675)GGA>TGA	p.G225*	HNRNPH1_uc011dgn.1_5'Flank|HNRNPH1_uc003mkg.3_Nonsense_Mutation_p.G133*|HNRNPH1_uc003mke.3_Nonsense_Mutation_p.G225*|HNRNPH1_uc003mkh.3_Nonsense_Mutation_p.G225*	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	225					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						AAGCCAGCTCCTCTGCCAATG	0.507												
TBC1D9B	23061	broad.mit.edu	37	5	179290716	179290716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179290716G>A	uc003mlh.2	-	22	3522	c.3485C>T	c.(3484-3486)ACG>ATG	p.T1162M	TBC1D9B_uc003mli.2_Missense_Mutation_p.T1145M|TBC1D9B_uc003mlj.2_Missense_Mutation_p.T1144M|TBC1D9B_uc003mlf.2_Missense_Mutation_p.T236M|TBC1D9B_uc003mlg.2_Missense_Mutation_p.T321M|TBC1D9B_uc011dgv.1_Missense_Mutation_p.T321M	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1162						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGAGCCCGTGCTGACCAC	0.662												
TBC1D9B	23061	broad.mit.edu	37	5	179305416	179305416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179305416G>A	uc003mlh.2	-	10	1712	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C	TBC1D9B_uc003mli.2_Missense_Mutation_p.R559C|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R559C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	559	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCATGGAGCGGTGCAGGTCT	0.622												
BPHL	670	broad.mit.edu	37	6	3127585	3127585	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:3127585C>T	uc003mva.2	+	3	370	c.321C>T	c.(319-321)CGC>CGT	p.R107R	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.R90R	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	107					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCCCAGATCGCGATTTCCCAG	0.527												
FAM50B	26240	broad.mit.edu	37	6	3850301	3850301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:3850301C>T	uc003mvu.2	+	2	368	c.256C>T	c.(256-258)CGG>TGG	p.R86W		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	86						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGAGCGCGAGCGGCAGCTGGC	0.527												
SYCP2L	221711	broad.mit.edu	37	6	10961554	10961554	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:10961554C>T	uc003mzo.2	+	27	2568	c.2272C>T	c.(2272-2274)CGC>TGC	p.R758C	SYCP2L_uc010jow.2_Missense_Mutation_p.R378C	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	758						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TAAACTAGAGCGCTTTCAAAA	0.383												
NEDD9	4739	broad.mit.edu	37	6	11193859	11193859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:11193859C>T	uc003mzv.2	-	3	693	c.526G>A	c.(526-528)GTC>ATC	p.V176I	NEDD9_uc010joz.2_Missense_Mutation_p.V176I|NEDD9_uc003mzw.3_Missense_Mutation_p.V30I	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	176	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ATATCATAGACGTCCTTTTGG	0.512												
RNF182	221687	broad.mit.edu	37	6	13977703	13977703	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:13977703T>C	uc003nbe.2	+	3	771	c.353T>C	c.(352-354)CTG>CCG	p.L118P	RNF182_uc003nbf.2_Missense_Mutation_p.L118P|RNF182_uc003nbg.2_Missense_Mutation_p.L118P	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	118						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CTGGCCTCTCTGGTCAGTCCT	0.552												
KAAG1	353219	broad.mit.edu	37	6	24358064	24358064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:24358064C>T	uc003ndz.1	+	1	934	c.197C>T	c.(196-198)GCG>GTG	p.A66V	DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	66					immune response						0						ACCCAGGGCGCGGGATCGCCT	0.662												
TRIM26	7726	broad.mit.edu	37	6	30153714	30153714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:30153714C>T	uc003npr.2	-	9	1768	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q	TRIM26_uc003nps.2_Missense_Mutation_p.R520Q|TRIM26_uc010jry.2_Missense_Mutation_p.R250Q|TRIM26_uc003npt.2_Missense_Mutation_p.R520Q	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	520	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GACCAGGCGCCGGGTGAAGGT	0.607												
MDC1	9656	broad.mit.edu	37	6	30671952	30671952	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:30671952C>T	uc003nrg.3	-	10	5448	c.5008G>A	c.(5008-5010)GTC>ATC	p.V1670I	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.V1277I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1670					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TCAGGGGTGACGGACTGGTCT	0.532								Other_conserved_DNA_damage_response_genes				
GTF2H4	2968	broad.mit.edu	37	6	30877746	30877746	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:30877746C>T	uc003nsa.1	+	4	487	c.280C>T	c.(280-282)CGG>TGG	p.R94W	GTF2H4_uc010jsf.2_Missense_Mutation_p.R94W|GTF2H4_uc011dmv.1_Missense_Mutation_p.R38W|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.R100W	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	94					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						GAGCGGCCTCCGGATCTGGCA	0.577								NER				
LY6G6F	259215	broad.mit.edu	37	6	31683367	31683367	+	Silent	SNP	G	G	A	rs143744153		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:31683367G>A	uc003nwb.1	+	5	891	c.891G>A	c.(889-891)CAG>CAA	p.Q297Q	BAT5_uc011dnz.1_5'Flank|LY6G6E_uc011dob.1_5'Flank|LY6G6E_uc003nwc.2_5'Flank|LY6G6E_uc003nwd.2_5'Flank|LY6G6E_uc003nwe.2_5'Flank|LY6G6D_uc003nwf.1_Silent_p.Q48Q|LY6G6D_uc003nwg.1_Silent_p.Q27Q	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein precursor	Error:Variant_position_missing_in_Q5SQ64_after_alignment						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2						GCAGACCCCAGCCAGGCCTGG	0.582												
HSPA1L	3305	broad.mit.edu	37	6	31778622	31778622	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:31778622C>T	uc003nxh.2	-	2	1311	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A	HSPA1L_uc010jte.2_Silent_p.A376A	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	376					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CTGCTTGTACCGCAGCCCCAT	0.607												
NOTCH4	4855	broad.mit.edu	37	6	32166740	32166740	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:32166740G>A	uc003obb.2	-	24	4637	c.4498C>T	c.(4498-4500)CGC>TGC	p.R1500C	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.R163C|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1500	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GGGGGCCGGCGTCGGTGGGGA	0.612												
DAXX	1616	broad.mit.edu	37	6	33288764	33288764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33288764C>T	uc003oec.2	-	3	992	c.788G>A	c.(787-789)CGC>CAC	p.R263H	DAXX_uc011drd.1_Missense_Mutation_p.R188H|DAXX_uc011dre.1_Missense_Mutation_p.R275H|DAXX_uc003oed.2_Missense_Mutation_p.R263H|DAXX_uc010juw.2_Missense_Mutation_p.R188H	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	263				R -> H (in Ref. 5; AAC72843).	activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						CTCTGGGTAGCGGGTGCCACG	0.577			Mis|F|N		Pancreatic neuroendocrine tumors							
ITPR3	3710	broad.mit.edu	37	6	33652577	33652577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33652577G>A	uc011drk.1	+	39	5383	c.5164G>A	c.(5164-5166)GCA>ACA	p.A1722T	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1722	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						GTCGGCAATCGCAGCCACCCA	0.642												
ITPR3	3710	broad.mit.edu	37	6	33656440	33656440	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33656440G>A	uc011drk.1	+	49	6795	c.6576G>A	c.(6574-6576)CCG>CCA	p.P2192P	ITPR3_uc003oey.2_Silent_p.P279P	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2192	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						CAGGCATGCCGCTGATCTACT	0.602												
ITPR3	3710	broad.mit.edu	37	6	33660616	33660616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:33660616C>T	uc011drk.1	+	55	7789	c.7570C>T	c.(7570-7572)CGT>TGT	p.R2524C	ITPR3_uc003oey.2_Missense_Mutation_p.R611C	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2524	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						CGCTGACCTGCGTAGTGAGAA	0.537												
PPARD	5467	broad.mit.edu	37	6	35389648	35389648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:35389648C>T	uc003okm.2	+	5	646	c.337C>T	c.(337-339)CGC>TGC	p.R113C	PPARD_uc003okl.2_Missense_Mutation_p.R113C|PPARD_uc003okn.2_Missense_Mutation_p.R113C|PPARD_uc011dtb.1_Missense_Mutation_p.R74C|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_RNA	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	113	Nuclear receptor.|NR C4-type.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GAAGTGTGAGCGCAGCTGCAA	0.567												
TEAD3	7005	broad.mit.edu	37	6	35443481	35443481	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:35443481G>A	uc003oku.3	-	11	1139	c.903C>T	c.(901-903)GCC>GCT	p.A301A	TEAD3_uc003okt.2_Silent_p.A190A|TEAD3_uc010jvx.2_Silent_p.A241A	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	301	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGTTGAGGTCGGCCTGGGCAT	0.602												
CPNE5	57699	broad.mit.edu	37	6	36714354	36714354	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:36714354C>A	uc003omr.1	-	16	1086	c.1019G>T	c.(1018-1020)GGG>GTG	p.G340V	CPNE5_uc003omp.1_Missense_Mutation_p.G48V|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	340	VWFA.									skin(1)	1						TGAGGGGTTCCCTGTAACACA	0.577												
DAAM2	23500	broad.mit.edu	37	6	39835355	39835355	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:39835355C>T	uc003oow.2	+	6	654	c.498C>T	c.(496-498)CAC>CAT	p.H166H	DAAM2_uc010jxc.2_Silent_p.H166H|DAAM2_uc003oox.2_Silent_p.H166H	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	166	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCATGGACCACGCCACCTGTG	0.527												
KIAA0240	23506	broad.mit.edu	37	6	42796577	42796577	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:42796577C>T	uc003osn.1	+	6	657	c.506C>T	c.(505-507)ACG>ATG	p.T169M	KIAA0240_uc003osm.1_Missense_Mutation_p.T169M|KIAA0240_uc011duw.1_Missense_Mutation_p.T169M|KIAA0240_uc003oso.1_Missense_Mutation_p.T169M|KIAA0240_uc003osp.1_Missense_Mutation_p.T169M	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	169										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ATAGGGGTGACGCATGTGCCT	0.473												
PEX6	5190	broad.mit.edu	37	6	42942631	42942631	+	Missense_Mutation	SNP	C	C	T	rs111282915	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:42942631C>T	uc003otf.2	-	2	1121	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	343					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTGAAAGTGCCGGTAAAGAAC	0.463												
CUL7	9820	broad.mit.edu	37	6	43020028	43020028	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:43020028T>C	uc003otq.2	-	2	802	c.499A>G	c.(499-501)ATG>GTG	p.M167V	CUL7_uc011dvb.1_Missense_Mutation_p.M219V|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	167					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AACATGTGCATGAGCAAGTCC	0.562												
SRF	6722	broad.mit.edu	37	6	43141756	43141756	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:43141756G>A	uc003oui.2	+	2	1160	c.685G>A	c.(685-687)GAC>AAC	p.D229N	SRF_uc011dvf.1_Missense_Mutation_p.D25N	NM_003131	NP_003122	P11831	SRF_HUMAN	serum response factor (c-fos serum response	229					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCCCGTTCAGACCCCACAAC	0.562												
RSPH9	221421	broad.mit.edu	37	6	43612854	43612854	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:43612854C>A	uc003ovw.1	+	1	45	c.19C>A	c.(19-21)CTG>ATG	p.L7M	RSPH9_uc003ovx.1_Missense_Mutation_p.L7M	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	7					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						CGACAGCCTCCTGCTGTCTCT	0.672									Kartagener_syndrome			
AARS2	57505	broad.mit.edu	37	6	44275066	44275066	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:44275066C>T	uc010jza.1	-	6	963	c.960G>A	c.(958-960)GCG>GCA	p.A320A	SPATS1_uc003oxg.2_RNA|TMEM151B_uc003oxf.2_3'UTR	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	320					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCACGCGGTACGCTGTGTCTG	0.632												
CLIC5	53405	broad.mit.edu	37	6	45922893	45922893	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:45922893A>G	uc003oxv.3	-	2	735	c.629T>C	c.(628-630)GTC>GCC	p.V210A	CLIC5_uc003oxu.3_Missense_Mutation_p.V51A|CLIC5_uc003oxx.2_Missense_Mutation_p.V51A	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	210	Helical; Note=After insertion into the membrane; (Potential).				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						CACAGTGGTGACATTGAACAC	0.473												
MYO6	4646	broad.mit.edu	37	6	76599952	76599952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:76599952G>A	uc003pih.1	+	26	3116	c.2837G>A	c.(2836-2838)CGT>CAT	p.R946H	MYO6_uc003pig.1_Missense_Mutation_p.R946H|MYO6_uc003pii.1_Missense_Mutation_p.R946H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	946	Glu-rich.|Potential.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GACGAAAAACGTCGAAGAAAG	0.368												
HTR1B	3351	broad.mit.edu	37	6	78172950	78172950	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:78172950C>T	uc003pil.1	-	1	171	c.171G>A	c.(169-171)GCG>GCA	p.A57A		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	57	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AGGTGATGAGCGCCAATAGCA	0.547												
IBTK	25998	broad.mit.edu	37	6	82933168	82933168	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:82933168C>T	uc003pjl.1	-	8	1640	c.1113G>A	c.(1111-1113)AAG>AAA	p.K371K	IBTK_uc011dyv.1_Silent_p.K371K|IBTK_uc011dyw.1_Silent_p.K371K|IBTK_uc010kbi.1_Silent_p.K65K|IBTK_uc003pjm.2_Silent_p.K371K	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	371					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)		TAGAAGCCATCTTCTTGCACT	0.368												
MDN1	23195	broad.mit.edu	37	6	90428228	90428228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:90428228C>T	uc003pnn.1	-	43	6556	c.6440G>A	c.(6439-6441)TGG>TAG	p.W2147*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2147					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAATGACTCCAGGCTCGCAG	0.463												
MDN1	23195	broad.mit.edu	37	6	90428637	90428637	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:90428637T>G	uc003pnn.1	-	42	6286	c.6170A>C	c.(6169-6171)CAG>CCG	p.Q2057P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2057					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAGCTCATCTGCACACACTT	0.577												
MDN1	23195	broad.mit.edu	37	6	90453398	90453398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:90453398G>A	uc003pnn.1	-	30	4330	c.4214C>T	c.(4213-4215)GCC>GTC	p.A1405V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1405					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTTGCCAAGGCTGCAAATAC	0.463												
PRDM13	59336	broad.mit.edu	37	6	100062567	100062567	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:100062567G>T	uc003pqg.1	+	4	2317	c.2056G>T	c.(2056-2058)GTG>TTG	p.V686L		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGACAGTGACGTGGACGTCTG	0.701												
LAMA4	3910	broad.mit.edu	37	6	112493824	112493824	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:112493824G>A	uc003pvu.2	-	12	1849	c.1540C>T	c.(1540-1542)CGG>TGG	p.R514W	LAMA4_uc003pvv.2_Missense_Mutation_p.R507W|LAMA4_uc003pvt.2_Missense_Mutation_p.R507W	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	514	Potential.|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			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		TCATGGTCCCGCTGCCTGGCT	0.483												
FAM162B	221303	broad.mit.edu	37	6	117086316	117086316	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:117086316C>T	uc003pxi.2	-	2	422	c.275G>A	c.(274-276)CGG>CAG	p.R92Q		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	92						integral to membrane					0						TTACGGGATCCGAGGCGGGAT	0.647												
GOPC	57120	broad.mit.edu	37	6	117894635	117894635	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:117894635C>A	uc003pxu.2	-	5	1041	c.811G>T	c.(811-813)GGC>TGC	p.G271C	GOPC_uc003pxq.1_Missense_Mutation_p.G44C|GOPC_uc003pxv.2_Missense_Mutation_p.G263C	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	271					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CATACATGGCCTGGTGGTGCT	0.428			O	ROS1	glioblastoma							
C6orf204	387119	broad.mit.edu	37	6	118886986	118886986	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:118886986G>A	uc003pxz.1	-	3	1314	c.726C>T	c.(724-726)GCC>GCT	p.A242A	C6orf204_uc003pya.1_Silent_p.A245A|C6orf204_uc003pyb.2_Silent_p.A242A|C6orf204_uc011ebj.1_Silent_p.A140A|C6orf204_uc003pyc.2_Silent_p.A245A|C6orf204_uc011ebl.1_Silent_p.A140A	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	242						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TAGAGGAAGAGGCTCTAAAGT	0.423												
SERINC1	57515	broad.mit.edu	37	6	122768329	122768329	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:122768329T>G	uc003pyy.1	-	8	1002	c.932A>C	c.(931-933)CAG>CCG	p.Q311P	SERINC1_uc003pyx.1_5'Flank	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	311	Helical; (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		ATGCCACCACTGGACTGACTG	0.358												
STX7	8417	broad.mit.edu	37	6	132792740	132792740	+	Splice_Site	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:132792740C>T	uc003qdg.2	-	5	500	c.250_splice	c.e5-1	p.R84_splice	STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	NM_003569	NP_003560	O15400	STX7_HUMAN	syntaxin 7						intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity				0	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TCCTTTGACGCTAGAGGAAAG	0.433												
IL20RA	53832	broad.mit.edu	37	6	137329814	137329814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:137329814C>T	uc003qhj.2	-	5	1079	c.646G>A	c.(646-648)GTA>ATA	p.V216I	IL20RA_uc011edl.1_Missense_Mutation_p.V167I|IL20RA_uc003qhk.2_Missense_Mutation_p.V105I|IL20RA_uc003qhi.2_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	216	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TCCACGTGTACGCAGTAAAGA	0.537												
HEBP2	23593	broad.mit.edu	37	6	138727266	138727266	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:138727266G>T	uc003qhw.1	+	3	694	c.397G>T	c.(397-399)GCC>TCC	p.A133S		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	133						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGAAGATAGAGCCGAAATGAC	0.408												
NMBR	4829	broad.mit.edu	37	6	142409496	142409496	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:142409496G>A	uc003qiu.2	-	1	441	c.300C>T	c.(298-300)GAC>GAT	p.D100D		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	100	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGCGCGAGGCGTCCACCGGGA	0.592												
HIVEP2	3097	broad.mit.edu	37	6	143094969	143094969	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:143094969G>A	uc003qjd.2	-	5	1650	c.907C>T	c.(907-909)CTG>TTG	p.L303L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCAATGTCCAGTGGGATGGGT	0.468												
STX11	8676	broad.mit.edu	37	6	144507947	144507947	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:144507947C>T	uc003qks.3	+	2	375	c.183C>T	c.(181-183)GAC>GAT	p.D61D		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	61	Potential.			D -> N (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)		TGGTGGCCGACGTGAAGCGGC	0.617									Familial_Hemophagocytic_Lymphohistiocytosis			
ULBP1	80329	broad.mit.edu	37	6	150290471	150290471	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:150290471C>T	uc003qnp.2	+	3	643	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	200	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TTTTGATGTACTGGGAACAAA	0.393												
SYNE1	23345	broad.mit.edu	37	6	152472791	152472791	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:152472791G>A	uc010kiw.2	-	135	24949	c.24347C>T	c.(24346-24348)GCG>GTG	p.A8116V	SYNE1_uc010kiv.2_Missense_Mutation_p.A2640V|SYNE1_uc003qos.3_Missense_Mutation_p.A2640V|SYNE1_uc003qot.3_Missense_Mutation_p.A8045V|SYNE1_uc003qou.3_Missense_Mutation_p.A8116V|SYNE1_uc003qop.3_Missense_Mutation_p.A278V|SYNE1_uc011eez.1_Missense_Mutation_p.A318V|SYNE1_uc003qoq.3_Missense_Mutation_p.A318V|SYNE1_uc003qor.3_Missense_Mutation_p.A1016V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8116	Spectrin 30.|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)		GCTGTCCCGCGCAGTCTCAAA	0.403										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152560775	152560775	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:152560775A>G	uc010kiw.2	-	108	20562	c.19960T>C	c.(19960-19962)TTT>CTT	p.F6654L	SYNE1_uc010kiv.2_Missense_Mutation_p.F1178L|SYNE1_uc003qos.3_Missense_Mutation_p.F1178L|SYNE1_uc003qot.3_Missense_Mutation_p.F6583L|SYNE1_uc003qou.3_Missense_Mutation_p.F6654L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6654	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)		TGGACTGCAAAGCTGATTATC	0.453										HNSCC(10;0.0054)		
WTAP	9589	broad.mit.edu	37	6	160176302	160176303	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:160176302_160176303CG>TA	uc003qsl.2	+	8	1072_1073	c.850_851CG>TA	c.(850-852)CGC>TAC	p.R284Y	WTAP_uc003qso.2_Missense_Mutation_p.R165Y	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	284					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TAGCTCCTCCCGCCAGAGGACG	0.51												
PLG	5340	broad.mit.edu	37	6	161173964	161173964	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:161173964G>T	uc003qtm.3	+	19	2367	c.2304G>T	c.(2302-2304)GAG>GAT	p.E768D		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	768	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTGCTTCGAGAAGGACAAAT	0.473												
DLL1	28514	broad.mit.edu	37	6	170594100	170594100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:170594100C>T	uc003qxm.2	-	8	1626	c.1156G>A	c.(1156-1158)GAT>AAT	p.D386N		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	386	Extracellular (Potential).|EGF-like 5.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TACCCTCCATCGGGGCTGTCT	0.572												
DLL1	28514	broad.mit.edu	37	6	170597853	170597853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:170597853C>T	uc003qxm.2	-	3	846	c.376G>A	c.(376-378)GCT>ACT	p.A126T	DLL1_uc011ehc.1_Missense_Mutation_p.A126T|DLL1_uc003qxn.3_3'UTR	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	126	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTGTGGAGAGCTTCAATAATC	0.463												
TBP	6908	broad.mit.edu	37	6	170878836	170878836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:170878836G>A	uc003qxt.2	+	6	1046	c.814G>A	c.(814-816)GGC>AGC	p.G272S	TBP_uc003qxu.2_Missense_Mutation_p.G272S|TBP_uc011ehf.1_Missense_Mutation_p.G252S	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	272	2.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AAGGTTAGAAGGCCTTGTGCT	0.368												
SDK1	221935	broad.mit.edu	37	7	4051851	4051851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:4051851C>T	uc003smx.2	+	16	2543	c.2404C>T	c.(2404-2406)CGT>TGT	p.R802C	SDK1_uc010kso.2_Missense_Mutation_p.R78C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	802	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGGTGTTGCGTGGATACAT	0.483												
SDK1	221935	broad.mit.edu	37	7	4285315	4285315	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:4285315C>T	uc003smx.2	+	44	6398	c.6259C>T	c.(6259-6261)CCC>TCC	p.P2087S	SDK1_uc010kso.2_Missense_Mutation_p.P1343S|SDK1_uc003smy.2_Missense_Mutation_p.P574S|SDK1_uc003smz.2_Missense_Mutation_p.P147S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2087	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGGTCCCCACCCCGGCCTAG	0.602												
TNRC18	84629	broad.mit.edu	37	7	5427330	5427330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:5427330G>A	uc003soi.3	-	5	2474	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C	TNRC18_uc010ksx.1_Missense_Mutation_p.R635C	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	709							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACAGAGAGCGCTCCTGGTCT	0.587												
THSD7A	221981	broad.mit.edu	37	7	11675888	11675888	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:11675888G>A	uc003ssf.3	-	2	1143	c.891C>T	c.(889-891)CGC>CGT	p.R297R		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	297	Extracellular (Potential).|Potential.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAATAAGCTCGCGGGCTTCTG	0.463										HNSCC(18;0.044)		
ITGB8	3696	broad.mit.edu	37	7	20449534	20449534	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:20449534G>A	uc003suu.2	+	14	2929	c.2224G>A	c.(2224-2226)GTC>ATC	p.V742I	ITGB8_uc011jyh.1_Missense_Mutation_p.V607I	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	742	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CACAAGAGCAGTCACCTACCG	0.318												
ELMO1	9844	broad.mit.edu	37	7	36910077	36910077	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:36910077G>A	uc003tfk.1	-	20	2133	c.1826C>T	c.(1825-1827)CCG>CTG	p.P609L	ELMO1_uc003tfi.1_Missense_Mutation_p.P129L|ELMO1_uc003tfj.1_Missense_Mutation_p.P129L|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.P513L|ELMO1_uc010kxg.1_Missense_Mutation_p.P609L	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	609	PH.				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						ATCTGCCACCGGCACTGCAAT	0.418												
ELMO1	9844	broad.mit.edu	37	7	37136283	37136283	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:37136283C>T	uc003tfk.1	-	15	1548	c.1241G>A	c.(1240-1242)GGC>GAC	p.G414D	ELMO1_uc011kbc.1_Missense_Mutation_p.G318D|ELMO1_uc010kxg.1_Missense_Mutation_p.G414D	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	414	ELMO.				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						ACTACTGCGGCCAAAGGGACA	0.433												
GLI3	2737	broad.mit.edu	37	7	42005555	42005555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:42005555G>A	uc011kbh.1	-	15	3207	c.3116C>T	c.(3115-3117)GCG>GTG	p.A1039V	GLI3_uc011kbg.1_Missense_Mutation_p.A980V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1039					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						GCGCTTCTCCGCGGACGTGGC	0.687									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
PSMA2	5683	broad.mit.edu	37	7	42957428	42957428	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:42957428A>G	uc003thy.2	-	7	585	c.537T>C	c.(535-537)AAT>AAC	p.N179N	C7orf25_uc010kxr.2_Intron|PSMA2_uc010kxt.2_Silent_p.N101N	NM_002787	NP_002778	P25787	PSA2_HUMAN	proteasome subunit alpha type 2	179					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|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			large_intestine(2)|ovary(1)	3						CCAGATCTTCATTATATCTGA	0.269												
ADCY1	107	broad.mit.edu	37	7	45699644	45699644	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:45699644G>T	uc003tne.3	+	7	1329	c.1311G>T	c.(1309-1311)AAG>AAT	p.K437N	ADCY1_uc003tnd.2_Missense_Mutation_p.K212N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	437	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTGTAGGAAGGTTCATATCA	0.522												
WBSCR17	64409	broad.mit.edu	37	7	70853304	70853304	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:70853304T>C	uc003tvy.2	+	3	506	c.506T>C	c.(505-507)CTG>CCG	p.L169P	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	169	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCGGTGATCCTGCGGTCCGTG	0.552												
POM121	9883	broad.mit.edu	37	7	72416706	72416706	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:72416706C>T	uc003twj.2	+	15	3865	c.2888C>T	c.(2887-2889)GCG>GTG	p.A963V	POM121_uc010lam.1_Intron	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1228	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				TCCATTGGTGCGGGATCCAAG	0.587												
BAZ1B	9031	broad.mit.edu	37	7	72892375	72892375	+	Silent	SNP	A	A	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:72892375A>T	uc003tyc.2	-	7	1761	c.1416T>A	c.(1414-1416)CCT>CCA	p.P472P		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	472	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCTGCAGGAGGCAGATGTT	0.502												
ELN	2006	broad.mit.edu	37	7	73462021	73462021	+	Silent	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:73462021C>A	uc003tzw.2	+	13	751	c.660C>A	c.(658-660)CCC>CCA	p.P220P	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.P189P|ELN_uc003tzn.2_Silent_p.P220P|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Silent_p.P176P|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.P220P|ELN_uc003tzt.2_Silent_p.P225P|ELN_uc003tzu.2_Silent_p.P225P|ELN_uc003tzv.2_Silent_p.P210P|ELN_uc003tzx.2_Silent_p.P210P|ELN_uc011kff.1_Silent_p.P220P|ELN_uc003tzy.2_Silent_p.P215P	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	220					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ATGGACTGCCCTACACCACAG	0.597			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome					
GTF2I	2969	broad.mit.edu	37	7	74129222	74129222	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:74129222C>T	uc003uau.2	+	10	1179	c.809C>T	c.(808-810)TCG>TTG	p.S270L	GTF2I_uc003uat.2_Intron|GTF2I_uc003uav.2_Missense_Mutation_p.S270L|GTF2I_uc003uaw.2_Intron|GTF2I_uc003uay.2_Missense_Mutation_p.S269L|GTF2I_uc003uax.2_Intron|uc003uaz.2_Intron	NM_032999	NP_127492	P78347	GTF2I_HUMAN	general transcription factor IIi isoform 1	270					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						CAGCCCCTATCGAAGCCTTTG	0.363												
HIP1	3092	broad.mit.edu	37	7	75203108	75203108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:75203108G>A	uc003uds.1	-	8	744	c.703C>T	c.(703-705)CTT>TTT	p.L235F	HIP1_uc011kfz.1_Missense_Mutation_p.L112F	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	235					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TAGTCATAAAGGTGGCTGCAG	0.567			T	PDGFRB	CMML							
HEPACAM2	253012	broad.mit.edu	37	7	92855767	92855767	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:92855767G>T	uc003umm.2	-	1	16	c.-7C>A	c.(-9--5)CACTG>CAATG		HEPACAM2_uc011khy.1_Translation_Start_Site	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1							integral to membrane				ovary(3)|breast(1)|kidney(1)	5						CATGCATGCAGTGCCCTGTTC	0.498												
LMTK2	22853	broad.mit.edu	37	7	97822238	97822238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:97822238G>A	uc003upd.1	+	11	2754	c.2461G>A	c.(2461-2463)GAA>AAA	p.E821K		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	821					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)					TACCTCCTTCGAAACAGAAGA	0.537												
TRRAP	8295	broad.mit.edu	37	7	98559064	98559064	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:98559064T>C	uc003upp.2	+	45	6858	c.6649T>C	c.(6649-6651)TCG>CCG	p.S2217P	TRRAP_uc011kis.1_Missense_Mutation_p.S2199P|TRRAP_uc003upr.2_Missense_Mutation_p.S1916P	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2217	Interaction with TP53.				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)			CAGCCTTCTCTCGCGCCTGAT	0.557												
STAG3	10734	broad.mit.edu	37	7	99796140	99796140	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:99796140C>T	uc003utx.1	+	13	1442	c.1287C>T	c.(1285-1287)GTC>GTT	p.V429V	STAG3_uc010lgs.1_Silent_p.V217V|STAG3_uc011kjk.1_Silent_p.V371V|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	429					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGAGAGCGTCTACCCAGTTG	0.517												
C7orf51	222950	broad.mit.edu	37	7	100086950	100086950	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:100086950A>C	uc003uvd.1	+	4	1765	c.1606A>C	c.(1606-1608)AGC>CGC	p.S536R	C7orf51_uc003uve.1_Missense_Mutation_p.S318R	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	536										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCCCACAGCCTTCCGGA	0.701												
MUC17	140453	broad.mit.edu	37	7	100687017	100687017	+	Missense_Mutation	SNP	C	C	T	rs150141937	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:100687017C>T	uc003uxp.1	+	3	12373	c.12320C>T	c.(12319-12321)ACG>ATG	p.T4107M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4107	Extracellular (Potential).					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)					TCCTTCCCCACGGTGACCACC	0.537												
CUX1	1523	broad.mit.edu	37	7	101926330	101926330	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:101926330A>G	uc003uyt.2	+	23	2004	c.1985A>G	c.(1984-1986)CAC>CGC	p.H662R	CUX1_uc011kkn.1_Missense_Mutation_p.H623R|CUX1_uc003uyw.2_Missense_Mutation_p.H616R|CUX1_uc003uyv.2_Missense_Mutation_p.H646R|CUX1_uc003uyu.2_Missense_Mutation_p.H660R|CUX1_uc003uyz.2_RNA|SH2B2_uc011kko.1_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:Variant_position_missing_in_P39880_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GACCACCTGCACAAGTTCCAC	0.642												
POLR2J	5439	broad.mit.edu	37	7	102114856	102114856	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:102114856G>A	uc003uzp.1	-	3	344	c.270C>T	c.(268-270)GCC>GCT	p.A90A		NM_006234	NP_006225	P52435	RPB11_HUMAN	DNA directed RNA polymerase II polypeptide J	90					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(1)	1						GGTCGGTGATGGCGTTGGTAA	0.632												
RELN	5649	broad.mit.edu	37	7	103130255	103130255	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:103130255T>C	uc003vca.2	-	60	9857	c.9697A>G	c.(9697-9699)AAG>GAG	p.K3233E	RELN_uc010liz.2_Missense_Mutation_p.K3233E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3233	EGF-like 8.				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)		CTGCAGAGCTTGGGGCAAGCC	0.527												
PRKAR2B	5577	broad.mit.edu	37	7	106797730	106797730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:106797730G>A	uc003vdx.2	+	10	1259	c.1084G>A	c.(1084-1086)GCA>ACA	p.A362T		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	362	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						CAAACCTCGAGCAGCTTCTGC	0.488												
SLC26A4	5172	broad.mit.edu	37	7	107303783	107303783	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:107303783G>A	uc003vep.2	+	3	431	c.207G>A	c.(205-207)GTG>GTA	p.V69V	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	69	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						AGACTCTTGTGCCCATCTTGG	0.468									Pendred_syndrome			
LAMB4	22798	broad.mit.edu	37	7	107703425	107703425	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:107703425C>T	uc010ljo.1	-	23	3160	c.3076G>A	c.(3076-3078)GCT>ACT	p.A1026T	LAMB4_uc003vey.2_Missense_Mutation_p.A1026T|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1026	Laminin EGF-like 11.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						ACGCCGGAAGCATGGCAGGAG	0.512												
LAMB4	22798	broad.mit.edu	37	7	107706317	107706317	+	Missense_Mutation	SNP	C	C	T	rs146445677		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:107706317C>T	uc010ljo.1	-	21	2810	c.2726G>A	c.(2725-2727)CGT>CAT	p.R909H	LAMB4_uc003vey.2_Missense_Mutation_p.R909H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	909	Laminin EGF-like 8.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CAGGCAAGGACGACAGGGCTG	0.418												
LRRN3	54674	broad.mit.edu	37	7	110763995	110763995	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:110763995G>A	uc003vft.3	+	4	2213	c.1167G>A	c.(1165-1167)ATG>ATA	p.M389I	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.M389I|LRRN3_uc003vfs.3_Missense_Mutation_p.M389I	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	389	Extracellular (Potential).|LRRCT.					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)		TTCGATTCATGGAGCCAGATT	0.458												
C7orf60	154743	broad.mit.edu	37	7	112462157	112462157	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:112462157G>A	uc003vgo.1	-	5	987	c.860C>T	c.(859-861)GCT>GTT	p.A287V	C7orf60_uc011kms.1_Missense_Mutation_p.A313V	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	287										ovary(2)|skin(1)	3						CATCATCATAGCATGACGGTT	0.398												
PPP1R3A	5506	broad.mit.edu	37	7	113519374	113519374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:113519374C>T	uc010ljy.1	-	4	1804	c.1773G>A	c.(1771-1773)TGG>TGA	p.W591*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	591					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CAGCTTCTTCCCAACTTAAAT	0.473												
FAM71F1	84691	broad.mit.edu	37	7	128359092	128359092	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:128359092C>G	uc003vno.1	+	3	695	c.642C>G	c.(640-642)CAC>CAG	p.H214Q	FAM71F1_uc010llo.1_Missense_Mutation_p.H115Q|FAM71F1_uc011koq.1_Missense_Mutation_p.H106Q|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.H115Q|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.H214Q	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	214										skin(1)	1						TTGTCACGCACTGCCTGGTAC	0.532												
FAM71F1	84691	broad.mit.edu	37	7	128370103	128370103	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:128370103C>A	uc003vno.1	+	6	1054	c.1001C>A	c.(1000-1002)CCA>CAA	p.P334Q	FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.P233Q|FAM71F1_uc003vnp.1_Missense_Mutation_p.P332Q	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	334										skin(1)	1						TCCACCGGGCCACAGCTGGCC	0.632												
NRF1	4899	broad.mit.edu	37	7	129317486	129317486	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:129317486C>T	uc003voz.2	+	4	470	c.353C>T	c.(352-354)ACG>ATG	p.T118M	NRF1_uc003vpa.2_Missense_Mutation_p.T118M|NRF1_uc011kpa.1_Translation_Start_Site|NRF1_uc003vpb.2_Missense_Mutation_p.T118M	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	118					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CTTCGAGCCACGTTAGATGAA	0.393												
AKR1B1	231	broad.mit.edu	37	7	134135550	134135550	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:134135550C>T	uc003vrp.1	-	3	413	c.339G>A	c.(337-339)CCG>CCA	p.P113P	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	113					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	p.P113L(1)		ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	TAAAGCCAGTCGGCCAGTGAA	0.562												
CHRM2	1129	broad.mit.edu	37	7	136700458	136700458	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:136700458C>T	uc003vtf.1	+	4	1469	c.846C>T	c.(844-846)AGC>AGT	p.S282S	CHRM2_uc003vtg.1_Silent_p.S282S|CHRM2_uc003vtj.1_Silent_p.S282S|CHRM2_uc003vtk.1_Silent_p.S282S|CHRM2_uc003vtl.1_Silent_p.S282S|CHRM2_uc003vtm.1_Silent_p.S282S|CHRM2_uc003vti.1_Silent_p.S282S|CHRM2_uc003vto.1_Silent_p.S282S|CHRM2_uc003vtn.1_Silent_p.S282S|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	282	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)	AGAAGGAGAGCTCCAATGACT	0.502												
ATP6V0A4	50617	broad.mit.edu	37	7	138444498	138444498	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:138444498G>A	uc003vuf.2	-	7	876	c.638C>T	c.(637-639)ACG>ATG	p.T213M	ATP6V0A4_uc003vug.2_Missense_Mutation_p.T213M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.T213M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	213	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						GGTTCCCACCGTCACAGGATC	0.522												
KIAA1549	57670	broad.mit.edu	37	7	138603675	138603675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:138603675G>A	uc011kql.1	-	2	746	c.697C>T	c.(697-699)CGG>TGG	p.R233W	KIAA1549_uc003vuk.3_Missense_Mutation_p.R183W|KIAA1549_uc011kqj.1_Missense_Mutation_p.R233W	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	233						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAAGCTGACCGAAAGGTGTGG	0.493			O	BRAF	pilocytic astrocytoma							
DENND2A	27147	broad.mit.edu	37	7	140301723	140301723	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:140301723C>T	uc010lnj.2	-	1	620	c.475G>A	c.(475-477)GTG>ATG	p.V159M	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.V159M|DENND2A_uc003vvw.2_Missense_Mutation_p.V159M|DENND2A_uc003vvx.2_Missense_Mutation_p.V159M	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	159										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TGCTTCAGCACGGAGAGGGGA	0.592												
EPHA1	2041	broad.mit.edu	37	7	143096874	143096874	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:143096874C>T	uc003wcz.2	-	4	792	c.705G>A	c.(703-705)GCG>GCA	p.A235A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	235	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGCTGGCCCGCGCGTGGGGCA	0.677												
LOC441294	441294	broad.mit.edu	37	7	143268907	143268907	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:143268907C>T	uc011kth.1	+	1	18	c.-3C>T	c.(-5--1)GACGC>GATGC			NM_001008747	NP_001008747	A4D2H0	A4D2H0_HUMAN	hypothetical protein LOC441294												0	Melanoma(164;0.0903)					GCAGCCTCGACGCTATGGAGG	0.617												
CNTNAP2	26047	broad.mit.edu	37	7	147675027	147675027	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:147675027C>T	uc003weu.1	+	15	2845	c.2329C>T	c.(2329-2331)CGT>TGT	p.R777C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	777	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGATACTGACCGTCAAGGCTC	0.478										HNSCC(39;0.1)		
CUL1	8454	broad.mit.edu	37	7	148454198	148454198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:148454198C>T	uc010lpg.2	+	4	965	c.439C>T	c.(439-441)CGT>TGT	p.R147C	CUL1_uc003wey.2_Missense_Mutation_p.R147C|CUL1_uc003wez.2_Missense_Mutation_p.R37C	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	147					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|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|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTGGGTTCGCCGTGAATGTGA	0.313												
MLL3	58508	broad.mit.edu	37	7	151960144	151960144	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:151960144T>C	uc003wla.2	-	9	1475	c.1256A>G	c.(1255-1257)CAA>CGA	p.Q419R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	419	PHD-type 2.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	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)		CATAACTGGTTGAAGACAAAA	0.333			N		medulloblastoma							
TNKS	8658	broad.mit.edu	37	8	9564436	9564436	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:9564436C>T	uc003wss.2	+	8	1390	c.1385C>T	c.(1384-1386)ACA>ATA	p.T462I	TNKS_uc011kwv.1_Missense_Mutation_p.T462I|TNKS_uc011kww.1_Missense_Mutation_p.T225I	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	462	ANK 6.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GCTGATCCTACATTAGTCAAC	0.468												
SOX7	83595	broad.mit.edu	37	8	10584161	10584161	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:10584161G>A	uc003wtf.2	-	2	333	c.254C>T	c.(253-255)GCG>GTG	p.A85V	SOX7_uc011kwz.1_Missense_Mutation_p.A137V|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	85	HMG box.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		CAGCGTCAGCGCCTTCCACGA	0.542												
TUSC3	7991	broad.mit.edu	37	8	15480617	15480617	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:15480617T>C	uc003wwt.2	+	2	377	c.167T>C	c.(166-168)CTG>CCG	p.L56P	TUSC3_uc003wwr.2_Missense_Mutation_p.L56P|TUSC3_uc003wws.2_Missense_Mutation_p.L56P|TUSC3_uc003wwu.2_Missense_Mutation_p.L56P|TUSC3_uc003wwv.2_Missense_Mutation_p.L56P|TUSC3_uc003www.2_Missense_Mutation_p.L56P|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.L56P	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	56					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GTAGAGCAGCTGATGGAATGG	0.338												
SLC7A2	6542	broad.mit.edu	37	8	17401103	17401103	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:17401103C>T	uc011kyc.1	+	2	424	c.255C>T	c.(253-255)TGC>TGT	p.C85C	SLC7A2_uc011kyd.1_Silent_p.C125C|SLC7A2_uc011kye.1_Silent_p.C125C|SLC7A2_uc011kyf.1_Silent_p.C85C	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	85	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGGCCTCTGCTATGCCGAAT	0.587												
XPO7	23039	broad.mit.edu	37	8	21827021	21827021	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:21827021A>G	uc003xaa.3	+	3	295	c.193A>G	c.(193-195)ACA>GCA	p.T65A	XPO7_uc010lti.2_Missense_Mutation_p.T65A|XPO7_uc010ltj.1_RNA|XPO7_uc010ltk.2_Missense_Mutation_p.T66A	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	65	Importin N-terminal.				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)		ACTGGCAGCTACATGCCTTAC	0.408												
FGF17	8822	broad.mit.edu	37	8	21905676	21905676	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:21905676C>T	uc003xag.2	+	5	579	c.567C>T	c.(565-567)GCC>GCT	p.A189A	FGF17_uc003xah.2_Silent_p.A178A|FGF17_uc003xai.2_Silent_p.A212A	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	189					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CCAACCACGCCGAGAAGCAGA	0.706												
NUDT18	79873	broad.mit.edu	37	8	21965188	21965188	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:21965188C>T	uc003xaq.1	-	6	714	c.595G>A	c.(595-597)GCC>ACC	p.A199T	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	199							hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACTGTCTGGGCGCTGGTAAAG	0.612												
SLC39A14	23516	broad.mit.edu	37	8	22273425	22273425	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:22273425G>A	uc003xbq.3	+	6	1069	c.894G>A	c.(892-894)GCG>GCA	p.A298A	SLC39A14_uc011kzg.1_Silent_p.A298A|SLC39A14_uc003xbp.3_Silent_p.A298A|SLC39A14_uc011kzh.1_Silent_p.A298A	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	298	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ACGGCAAGGCGCCCATGGTGG	0.602												
ADRA1A	148	broad.mit.edu	37	8	26721669	26721669	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:26721669G>A	uc003xfh.1	-	1	1254	c.818C>T	c.(817-819)ACG>ATG	p.T273M	ADRA1A_uc003xfc.1_Missense_Mutation_p.T273M|ADRA1A_uc010lul.1_Missense_Mutation_p.T273M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.T273M|ADRA1A_uc010lum.1_Missense_Mutation_p.T273M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.T273M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	273	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GATGCCCAGCGTTTTGGCCGC	0.582												
PTK2B	2185	broad.mit.edu	37	8	27293788	27293788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:27293788C>T	uc003xfn.1	+	20	2072	c.1264C>T	c.(1264-1266)CGT>TGT	p.R422C	PTK2B_uc003xfo.1_Missense_Mutation_p.R422C|PTK2B_uc003xfp.1_Missense_Mutation_p.R422C|PTK2B_uc003xfq.1_Missense_Mutation_p.R422C|PTK2B_uc010luq.1_Missense_Mutation_p.R180C|PTK2B_uc003xfr.1_Missense_Mutation_p.R168C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	422					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)		TGGCATTGCCCGTGAAGATGT	0.493												
NRG1	3084	broad.mit.edu	37	8	32621514	32621514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:32621514C>T	uc003xiv.2	+	12	2034	c.1517C>T	c.(1516-1518)GCG>GTG	p.A506V	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.A511V|NRG1_uc003xiw.2_Missense_Mutation_p.A503V|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.A248V|NRG1_uc010lvs.2_Missense_Mutation_p.A248V|NRG1_uc010lvp.2_Missense_Mutation_p.A460V|NRG1_uc010lvq.2_Missense_Mutation_p.A443V|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.A349V|NRG1_uc003xja.2_Missense_Mutation_p.A317V	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	506	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CACAACCCCGCGCATGACAGT	0.547												
UNC5D	137970	broad.mit.edu	37	8	35647984	35647984	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:35647984T>G	uc003xjr.1	+	17	3093	c.2765T>G	c.(2764-2766)CTT>CGT	p.L922R	UNC5D_uc003xjs.1_Missense_Mutation_p.L917R|UNC5D_uc003xju.1_Missense_Mutation_p.L498R	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	922	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCTGTGCCCTTGAAGAGATT	0.478												
CHRNB3	1142	broad.mit.edu	37	8	42565570	42565570	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:42565570T>C	uc003xpi.1	+	3	370	c.242T>C	c.(241-243)CTC>CCC	p.L81P		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	81	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)			AATGTGTGGCTCAAACAGGTA	0.308												
PRKDC	5591	broad.mit.edu	37	8	48772214	48772214	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:48772214G>T	uc003xqi.2	-	47	6222	c.6165C>A	c.(6163-6165)AGC>AGA	p.S2055R	PRKDC_uc003xqj.2_Missense_Mutation_p.S2055R|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2055					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)				GGTCTTGGGAGCTGTATGAAT	0.443								NHEJ				
RGS20	8601	broad.mit.edu	37	8	54791937	54791937	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:54791937C>T	uc003xrp.2	+	2	377	c.285C>T	c.(283-285)CCC>CCT	p.P95P	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	95					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACCCCCTCCCGAGGCTCCCC	0.726												
MTFR1	9650	broad.mit.edu	37	8	66619471	66619471	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:66619471A>G	uc003xvm.2	+	6	956	c.744A>G	c.(742-744)GTA>GTG	p.V248V	MTFR1_uc011lep.1_Silent_p.V248V|MTFR1_uc003xvn.2_Silent_p.V215V|MTFR1_uc003xvo.1_Silent_p.V238V	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	248						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGAACAGTGTAAAACTTCGGT	0.383												
TRIM55	84675	broad.mit.edu	37	8	67039509	67039509	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:67039509C>T	uc003xvv.2	+	1	232	c.6C>T	c.(4-6)AGC>AGT	p.S2S	TRIM55_uc003xvu.2_Silent_p.S2S|TRIM55_uc003xvw.2_Silent_p.S2S|TRIM55_uc003xvx.2_Silent_p.S2S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	2						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGGAGATGAGCGCATCTCTGA	0.478												
CSPP1	79848	broad.mit.edu	37	8	68105705	68105705	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:68105705A>G	uc003xxi.2	+	30	3458	c.3427A>G	c.(3427-3429)AGT>GGT	p.S1143G	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Missense_Mutation_p.S1108G|CSPP1_uc003xxk.2_Missense_Mutation_p.S763G|CSPP1_uc010lyw.2_Intron	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	1143						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAGGATAGCAGTCGTCCTAA	0.323												
PREX2	80243	broad.mit.edu	37	8	68864748	68864748	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:68864748G>A	uc003xxv.1	+	1	146	c.119G>A	c.(118-120)GGC>GAC	p.G40D	PREX2_uc003xxu.1_Missense_Mutation_p.G40D|PREX2_uc011lez.1_Missense_Mutation_p.G40D|PREX2_uc003xxt.2_Missense_Mutation_p.G40D	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	40	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GACTATGTGGGCACGCTGGAG	0.612												
PREX2	80243	broad.mit.edu	37	8	68972999	68972999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:68972999G>A	uc003xxv.1	+	11	1351	c.1324G>A	c.(1324-1326)GGA>AGA	p.G442R	PREX2_uc003xxu.1_Missense_Mutation_p.G442R|PREX2_uc011lez.1_Missense_Mutation_p.G377R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	442	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATTAGAAAATGGAATCATTCA	0.348												
SULF1	23213	broad.mit.edu	37	8	70533371	70533371	+	Silent	SNP	C	C	T	rs146435519		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:70533371C>T	uc010lza.1	+	14	2196	c.1479C>T	c.(1477-1479)TAC>TAT	p.Y493Y	SULF1_uc003xyd.2_Silent_p.Y493Y|SULF1_uc003xye.2_Silent_p.Y493Y|SULF1_uc003xyf.2_Silent_p.Y493Y|SULF1_uc003xyg.2_Silent_p.Y493Y|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	493					apoptosis|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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGAACCTCTACGCTCGCGGCT	0.512												
NCOA2	10499	broad.mit.edu	37	8	71036947	71036947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:71036947G>A	uc003xyn.1	-	20	4232	c.4070C>T	c.(4069-4071)GCG>GTG	p.A1357V	NCOA2_uc011lfb.1_Missense_Mutation_p.A445V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1357					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)			GTTCCCCTGCGCCCATCCATT	0.557			T	RUNXBP2	AML							
ZFHX4	79776	broad.mit.edu	37	8	77618450	77618450	+	Silent	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:77618450T>C	uc003yav.2	+	2	2514	c.2127T>C	c.(2125-2127)ACT>ACC	p.T709T	ZFHX4_uc003yat.1_Silent_p.T709T|ZFHX4_uc003yau.1_Silent_p.T709T|ZFHX4_uc003yaw.1_Silent_p.T709T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	709	C2H2-type 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTCTACCACTACCAAAGGCA	0.493										HNSCC(33;0.089)		
ESRP1	54845	broad.mit.edu	37	8	95690487	95690487	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:95690487G>A	uc003ygq.3	+	13	1891	c.1708G>A	c.(1708-1710)GCT>ACT	p.A570T	ESRP1_uc003ygr.3_Missense_Mutation_p.A566T|ESRP1_uc003ygs.3_Missense_Mutation_p.A566T|ESRP1_uc003ygt.3_Missense_Mutation_p.A570T|ESRP1_uc003ygu.3_Missense_Mutation_p.A566T|ESRP1_uc003ygv.2_Missense_Mutation_p.A410T|ESRP1_uc003ygw.2_Missense_Mutation_p.A410T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	570					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TCCTACAGAAGCTGCCATTTA	0.488												
PLEKHF2	79666	broad.mit.edu	37	8	96166659	96166659	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:96166659T>G	uc003yhn.1	+	2	634	c.387T>G	c.(385-387)TGT>TGG	p.C129W		NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	phafin 2	129	PH.					transport vesicle	metal ion binding|protein binding			ovary(2)	2	Breast(36;3.18e-05)					TAAATAAATGTGTTACTGATT	0.408												
GDF6	392255	broad.mit.edu	37	8	97157634	97157634	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:97157634C>T	uc003yhp.2	-	2	625	c.525G>A	c.(523-525)GCG>GCA	p.A175A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	175					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCCCCCAGGGCGCTGAGGGCG	0.672												
TSPYL5	85453	broad.mit.edu	37	8	98289667	98289667	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:98289667G>T	uc003yhy.2	-	1	510	c.406C>A	c.(406-408)CCC>ACC	p.P136T		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	136					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)					CCAACGCGGGGGGCATTTTTC	0.682												
VPS13B	157680	broad.mit.edu	37	8	100148975	100148975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:100148975G>A	uc003yiv.2	+	12	1757	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D	VPS13B_uc003yiw.2_Missense_Mutation_p.G549D|VPS13B_uc003yit.2_Missense_Mutation_p.G549D|VPS13B_uc003yiu.1_Missense_Mutation_p.G549D|VPS13B_uc003yix.1_Missense_Mutation_p.G20D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	549					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)			AACACTAGTGGCAAAGGTATT	0.423												
NCALD	83988	broad.mit.edu	37	8	102731539	102731539	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:102731539T>C	uc003yke.2	-	2	688	c.319A>G	c.(319-321)ATG>GTG	p.M107V	NCALD_uc003ykf.2_Missense_Mutation_p.M107V|NCALD_uc003ykg.2_Missense_Mutation_p.M107V|NCALD_uc003ykh.2_Missense_Mutation_p.M107V|NCALD_uc003yki.2_Missense_Mutation_p.M107V|NCALD_uc003ykj.2_Missense_Mutation_p.M107V|NCALD_uc003ykk.2_Missense_Mutation_p.M107V|NCALD_uc003ykl.2_Missense_Mutation_p.M107V	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	107	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGGTCGTACATGCTGAAGGCC	0.473												
ODF1	4956	broad.mit.edu	37	8	103564043	103564043	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:103564043G>A	uc003ykt.2	+	1	196	c.88G>A	c.(88-90)GAA>AAA	p.E30K		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	30					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGCATCGACGAATTTAGCAC	0.493												
LRP12	29967	broad.mit.edu	37	8	105601048	105601048	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:105601048G>A	uc003yma.2	-	1	173	c.78C>T	c.(76-78)TAC>TAT	p.Y26Y	LRP12_uc003ymb.2_Silent_p.Y26Y|LRP12_uc003ymc.3_Silent_p.Y26Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	26					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GACACTTACCGTACACCCCAG	0.637												
TMEM74	157753	broad.mit.edu	37	8	109796921	109796921	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:109796921G>T	uc003ymy.1	-	2	512	c.407C>A	c.(406-408)CCT>CAT	p.P136H	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	136					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AAGCTCCCCAGGGTGATTATG	0.478												
PKHD1L1	93035	broad.mit.edu	37	8	110439310	110439310	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:110439310A>G	uc003yne.2	+	25	3029	c.2925A>G	c.(2923-2925)ACA>ACG	p.T975T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	975	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCAGTTACACGAGAGGGAA	0.552										HNSCC(38;0.096)		
PKHD1L1	93035	broad.mit.edu	37	8	110477120	110477120	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:110477120A>C	uc003yne.2	+	49	8163	c.8059A>C	c.(8059-8061)AGG>CGG	p.R2687R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2687	Extracellular (Potential).|PbH1 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAGACTAAGAGGATCCTGGC	0.458										HNSCC(38;0.096)		
EXT1	2131	broad.mit.edu	37	8	118830694	118830694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:118830694C>T	uc003yok.1	-	7	2385	c.1612G>A	c.(1612-1614)GTC>ATC	p.V538I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	538	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)			CCTTCAATGACGACGACAGGC	0.527			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
TRMT12	55039	broad.mit.edu	37	8	125464402	125464402	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:125464402G>A	uc003yra.3	+	1	1355	c.1234G>A	c.(1234-1236)GGG>AGG	p.G412R		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	412					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGGTGCATGGGAAACCATG	0.512												
ASAP1	50807	broad.mit.edu	37	8	131072825	131072825	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:131072825C>T	uc003yta.1	-	27	3220	c.3192G>A	c.(3190-3192)ACG>ACA	p.T1064T	ASAP1_uc003ysz.1_Silent_p.T875T|ASAP1_uc011liw.1_Silent_p.T1057T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1064					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCCCACCCACCGTATTGATTT	0.527												
ST3GAL1	6482	broad.mit.edu	37	8	134472060	134472060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:134472060C>T	uc003yuk.2	-	10	1799	c.970G>A	c.(970-972)GTG>ATG	p.V324M	ST3GAL1_uc003yum.2_Missense_Mutation_p.V324M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	324	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GTGGCCGTCACGTTAGACTCA	0.562												
ST3GAL1	6482	broad.mit.edu	37	8	134472082	134472082	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:134472082G>A	uc003yuk.2	-	10	1777	c.948C>T	c.(946-948)CAC>CAT	p.H316H	ST3GAL1_uc003yum.2_Silent_p.H316H	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	316	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			AGTCTGCATCGTGCACCCCCG	0.572												
KHDRBS3	10656	broad.mit.edu	37	8	136657326	136657326	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:136657326A>G	uc003yuv.2	+	8	1309	c.915A>G	c.(913-915)GGA>GGG	p.G305G	KHDRBS3_uc003yuw.2_3'UTR|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	305	Tyr-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGATTACGGACATGGACTCA	0.423												
FAM135B	51059	broad.mit.edu	37	8	139164495	139164495	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:139164495G>A	uc003yuy.2	-	13	2394	c.2223C>T	c.(2221-2223)AGC>AGT	p.S741S	FAM135B_uc003yux.2_Silent_p.S642S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.S303S|FAM135B_uc003yvb.2_Silent_p.S303S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	741										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGGATGCCGCTTGGCAAAC	0.527										HNSCC(54;0.14)		
SLC45A4	57210	broad.mit.edu	37	8	142228396	142228396	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:142228396A>G	uc003ywd.1	-	4	1498	c.1190T>C	c.(1189-1191)CTG>CCG	p.L397P	SLC45A4_uc003ywc.1_Missense_Mutation_p.L397P|SLC45A4_uc010meq.1_Missense_Mutation_p.L395P	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	448					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGCTTGATCAGCACCACGGC	0.692												
TSNARE1	203062	broad.mit.edu	37	8	143412317	143412317	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:143412317G>A	uc003ywk.2	-	6	956	c.838C>T	c.(838-840)CGG>TGG	p.R280W	TSNARE1_uc011lju.1_Missense_Mutation_p.R280W|TSNARE1_uc003ywj.2_Missense_Mutation_p.R280W|TSNARE1_uc003ywl.3_Missense_Mutation_p.R61W	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	280					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAGGCTCCGCTCCAAGGAG	0.632												
ZNF623	9831	broad.mit.edu	37	8	144732141	144732141	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144732141G>A	uc003yzd.2	+	1	188	c.99G>A	c.(97-99)ACG>ACA	p.T33T	ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACATAGGACGACGTCAGACA	0.483												
EPPK1	83481	broad.mit.edu	37	8	144940477	144940477	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144940477G>T	uc003zaa.1	-	2	14968	c.14955C>A	c.(14953-14955)ACC>ACA	p.T4985T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4985	Plectin 63.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGCTGCCCGGTGTAGGGGT	0.711												
EPPK1	83481	broad.mit.edu	37	8	144942153	144942153	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144942153G>A	uc003zaa.1	-	1	5282	c.5269C>T	c.(5269-5271)CTA>TTA	p.L1757L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1757						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGATTTGTAGCAGGTACAGG	0.542												
PLEC	5339	broad.mit.edu	37	8	144993942	144993942	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144993942C>T	uc003zaf.1	-	32	10628	c.10458G>A	c.(10456-10458)ACG>ACA	p.T3486T	PLEC_uc003zab.1_Silent_p.T3349T|PLEC_uc003zac.1_Silent_p.T3353T|PLEC_uc003zad.2_Silent_p.T3349T|PLEC_uc003zae.1_Silent_p.T3317T|PLEC_uc003zag.1_Silent_p.T3327T|PLEC_uc003zah.2_Silent_p.T3335T|PLEC_uc003zaj.2_Silent_p.T3376T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3486	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTGCAGCAGCGTCCGCACGG	0.652												
PLEC	5339	broad.mit.edu	37	8	144994298	144994298	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:144994298G>A	uc003zaf.1	-	32	10272	c.10102C>T	c.(10102-10104)CGT>TGT	p.R3368C	PLEC_uc003zab.1_Missense_Mutation_p.R3231C|PLEC_uc003zac.1_Missense_Mutation_p.R3235C|PLEC_uc003zad.2_Missense_Mutation_p.R3231C|PLEC_uc003zae.1_Missense_Mutation_p.R3199C|PLEC_uc003zag.1_Missense_Mutation_p.R3209C|PLEC_uc003zah.2_Missense_Mutation_p.R3217C|PLEC_uc003zaj.2_Missense_Mutation_p.R3258C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3368	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AAGGTCTCACGGGCCTGCAGC	0.652												
SLC39A4	55630	broad.mit.edu	37	8	145637935	145637935	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:145637935T>C	uc003zcq.2	-	12	2031	c.1931A>G	c.(1930-1932)GAC>GGC	p.D644G	SLC39A4_uc003zcm.1_3'UTR|SLC39A4_uc003zcn.2_Missense_Mutation_p.D146G|SLC39A4_uc003zco.2_Missense_Mutation_p.D368G|SLC39A4_uc003zcp.2_Missense_Mutation_p.D619G	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	644	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAAGGTGATGTCATCCTCGTA	0.602												
BNC2	54796	broad.mit.edu	37	9	16419583	16419583	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:16419583C>A	uc003zml.2	-	7	2844	c.2704G>T	c.(2704-2706)GAC>TAC	p.D902Y	BNC2_uc011lmw.1_Missense_Mutation_p.D807Y|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.D689Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TGCGACGAGTCCAGGCCCATG	0.532												
ACER2	340485	broad.mit.edu	37	9	19446317	19446317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:19446317C>T	uc003zny.1	+	5	700	c.542C>T	c.(541-543)TCG>TTG	p.S181L	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.S132L	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	181	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						GGCCTCTTCTCGGGCCTCTGG	0.507												
PRSS3	5646	broad.mit.edu	37	9	33799074	33799074	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:33799074G>T	uc003ztj.3	+	5	811	c.811G>T	c.(811-813)GTC>TTC	p.V271F	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.V228F|PRSS3_uc003ztl.3_Missense_Mutation_p.V214F	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	271	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCAAGGAGTTGTCTCCTGGGG	0.537												
KIAA1161	57462	broad.mit.edu	37	9	34371332	34371332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:34371332G>A	uc003zue.3	-	3	1777	c.1610C>T	c.(1609-1611)GCG>GTG	p.A537V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	537	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GGTGAGCACCGCGGGGATGAG	0.652												
KIAA1045	23349	broad.mit.edu	37	9	34971465	34971465	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:34971465A>G	uc003zvq.2	+	2	348	c.170A>G	c.(169-171)GAG>GGG	p.E57G	KIAA1045_uc003zvr.2_Missense_Mutation_p.E57G	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	57							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGTACAGGAGGAGAAGGAA	0.667												
FANCG	2189	broad.mit.edu	37	9	35079503	35079503	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:35079503A>C	uc003zwb.1	-	1	511	c.19T>G	c.(19-21)TCT>GCT	p.S7A	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S7A	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	7					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGCCCACAGAGGTGGTCTGG	0.647			Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
OR13J1	392309	broad.mit.edu	37	9	35869820	35869820	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:35869820C>T	uc011lph.1	-	1	579	c.579G>A	c.(577-579)TCG>TCA	p.S193S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCGCTGACCGACGTGTTGC	0.597												
CNTNAP3	79937	broad.mit.edu	37	9	39171366	39171366	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:39171366C>A	uc004abi.2	-	8	1572	c.1333G>T	c.(1333-1335)GGT>TGT	p.G445C	CNTNAP3_uc004abj.2_Missense_Mutation_p.G445C|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.G445C|CNTNAP3_uc011lqs.1_Missense_Mutation_p.G445C|CNTNAP3_uc004abl.1_Missense_Mutation_p.G357C	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	445	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAACTGTTACCTGCTGTGACA	0.483												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	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												
ALDH1A1	216	broad.mit.edu	37	9	75545879	75545879	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:75545879C>T	uc004ajd.2	-	3	281	c.228G>A	c.(226-228)CCG>CCA	p.P76P	ALDH1A1_uc011lsh.1_Translation_Start_Site	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	76					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAGTACGCCACGGGGATCCAA	0.463												
PCSK5	5125	broad.mit.edu	37	9	78686670	78686670	+	Silent	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:78686670G>T	uc004ajz.2	+	7	1288	c.750G>T	c.(748-750)ACG>ACT	p.T250T	PCSK5_uc004ajy.2_Silent_p.T250T|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	250	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GAGATGTCACGGACATGGTTG	0.527												
UBQLN1	29979	broad.mit.edu	37	9	86292653	86292653	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:86292653G>T	uc004amv.2	-	6	1668	c.1094C>A	c.(1093-1095)CCT>CAT	p.P365H	UBQLN1_uc004amw.2_Missense_Mutation_p.P365H	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	365					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						TCCTACTCCAGGCACCAAATT	0.443												
S1PR3	1903	broad.mit.edu	37	9	91616794	91616794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:91616794C>T	uc004aqe.2	+	2	1075	c.679C>T	c.(679-681)CGT>TGT	p.R227C		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	227	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						GTCCAGCAGCCGTAAGGTGGC	0.567											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IARS	3376	broad.mit.edu	37	9	95043054	95043054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:95043054G>A	uc004art.1	-	7	976	c.719C>T	c.(718-720)CCA>CTA	p.P240L	IARS_uc004ars.1_Missense_Mutation_p.P85L|IARS_uc004aru.3_Missense_Mutation_p.P240L|IARS_uc010mqr.2_Missense_Mutation_p.P130L|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	240					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	TTGCATTTCTGGATTAACACA	0.343												
GALNT12	79695	broad.mit.edu	37	9	101602364	101602364	+	Silent	SNP	T	T	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:101602364T>G	uc004ayz.2	+	7	1293	c.1293T>G	c.(1291-1293)ACT>ACG	p.T431T		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	431	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TCTTGGAGACTGTGTATCCAG	0.552												
COL15A1	1306	broad.mit.edu	37	9	101810227	101810227	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:101810227G>A	uc004azb.1	+	28	2944	c.2738G>A	c.(2737-2739)CGC>CAC	p.R913H		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	913	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGGTCGCCCAGGACTG	0.602												
PPP3R2	5535	broad.mit.edu	37	9	104357179	104357179	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:104357179C>T	uc004bbr.2	-	1	105	c.34G>A	c.(34-36)GCG>ACG	p.A12T	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	9							calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CACATCTCCGCCGGGTAACTG	0.577												
KLF4	9314	broad.mit.edu	37	9	110250239	110250239	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:110250239A>C	uc004bdh.2	-	3	1030	c.409T>G	c.(409-411)TCC>GCC	p.S137A	KLF4_uc004bdf.1_Missense_Mutation_p.S96A|KLF4_uc004bdg.2_Missense_Mutation_p.S146A	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	146	Ser-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						CTGCAGGTGGAGGGCGCGCTG	0.726												
ACTL7B	10880	broad.mit.edu	37	9	111617074	111617074	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:111617074G>A	uc004bdi.2	-	1	1202	c.1137C>T	c.(1135-1137)TCC>TCT	p.S379S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	379						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						CGGTCCACACGGAGGTCTTCC	0.652												
CTNNAL1	8727	broad.mit.edu	37	9	111705293	111705293	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:111705293A>G	uc004bdo.1	-	18	2129	c.2087T>C	c.(2086-2088)ATG>ACG	p.M696T	CTNNAL1_uc010mts.1_Missense_Mutation_p.M348T|CTNNAL1_uc010mtt.1_Missense_Mutation_p.M658T|CTNNAL1_uc004bdp.1_Missense_Mutation_p.M696T|CTNNAL1_uc004bdq.1_Missense_Mutation_p.M182T	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	696					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		GAGAGCCATCATGGATCTTGT	0.313												
PTPN3	5774	broad.mit.edu	37	9	112199206	112199206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:112199206G>A	uc004bed.2	-	9	744	c.632C>T	c.(631-633)GCG>GTG	p.A211V	PTPN3_uc004beb.2_Missense_Mutation_p.A80V|PTPN3_uc004bec.2_Missense_Mutation_p.A80V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.A211V|PTPN3_uc011lwh.1_Missense_Mutation_p.A102V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	211	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			ovary(3)	3						GAGGGTCCGCGCTATGTTGAT	0.398												
KIAA1958	158405	broad.mit.edu	37	9	115421571	115421571	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:115421571T>A	uc004bgf.1	+	4	1548	c.1373T>A	c.(1372-1374)CTC>CAC	p.L458H	KIAA1958_uc011lwx.1_Missense_Mutation_p.L486H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	458										skin(1)	1						AACGAGCTGCTCGAGAACTTT	0.532												
COL27A1	85301	broad.mit.edu	37	9	116945337	116945337	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:116945337C>T	uc011lxl.1	+	5	1998	c.1998C>T	c.(1996-1998)CCC>CCT	p.P666P	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.P516P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	666	Pro-rich.|Collagen-like 1.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CAGGTCTCCCCGGCCCTCCTG	0.547												
AKNA	80709	broad.mit.edu	37	9	117124787	117124787	+	Silent	SNP	G	G	A	rs150191572	byFrequency	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:117124787G>A	uc004biq.3	-	7	1950	c.1815C>T	c.(1813-1815)CAC>CAT	p.H605H	AKNA_uc004bin.3_5'Flank|AKNA_uc004bio.3_Silent_p.H65H|AKNA_uc004bip.3_Silent_p.H524H|AKNA_uc004bir.3_Silent_p.H605H|AKNA_uc004bis.3_Silent_p.H605H|AKNA_uc010mve.2_Silent_p.H486H|AKNA_uc004biu.1_Silent_p.H346H|AKNA_uc004biv.1_Silent_p.H605H	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CTAGGGCCGCGTGGGCAGCCT	0.637												
TNC	3371	broad.mit.edu	37	9	117808794	117808794	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:117808794T>C	uc004bjj.3	-	17	5382	c.5020A>G	c.(5020-5022)ACC>GCC	p.T1674A	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1674	Fibronectin type-III 12.				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						ATGTCCCTGGTACGTTCGGGG	0.458												
ASTN2	23245	broad.mit.edu	37	9	119739005	119739005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:119739005G>A	uc004bjs.1	-	8	1752	c.1651C>T	c.(1651-1653)CGC>TGC	p.R551C	ASTN2_uc004bjr.1_Missense_Mutation_p.R551C|ASTN2_uc004bjt.1_Missense_Mutation_p.R500C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	551	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CAGTCACTGCGCACACACAGG	0.507												
CDK5RAP2	55755	broad.mit.edu	37	9	123292371	123292371	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:123292371A>G	uc004bkf.2	-	8	891	c.710T>C	c.(709-711)ATT>ACT	p.I237T	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.I237T|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.I237T|CDK5RAP2_uc004bki.2_Missense_Mutation_p.I36T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	237					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AAGGCACTGAATTAAAGCTTC	0.398												
FAM125B	89853	broad.mit.edu	37	9	129157978	129157978	+	Splice_Site	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:129157978T>C	uc004bqh.1	+	6	743	c.662_splice	c.e6+2	p.R221_splice	FAM125B_uc004bqg.1_Nonstop_Mutation_p.*222R|FAM125B_uc011lzy.1_Splice_Site_p.R206_splice|FAM125B_uc010mxd.2_Splice_Site_p.R214_splice|FAM125B_uc011lzz.1_Nonstop_Mutation_p.*215R	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1						protein transport	late endosome membrane					0						CCTTCCCAGGTGAGGCCTTGT	0.522												
SLC2A8	29988	broad.mit.edu	37	9	130165962	130165962	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:130165962G>A	uc004bqu.2	+	6	792	c.747G>A	c.(745-747)CGG>CGA	p.R249R	SLC2A8_uc010mxj.2_Silent_p.R249R|SLC2A8_uc004bqv.2_5'Flank	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	249	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						CCCTGCTGCGGCAGCCCGGCA	0.617												
SLC25A25	114789	broad.mit.edu	37	9	130869723	130869723	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:130869723A>G	uc004bte.2	+	10	1439	c.1410A>G	c.(1408-1410)TGA>TGG	p.*470W	SLC25A25_uc004btb.2_Nonstop_Mutation_p.*504W|SLC25A25_uc004btc.2_Nonstop_Mutation_p.*490W|SLC25A25_uc004btd.2_Nonstop_Mutation_p.*502W|SLC25A25_uc004btf.2_Nonstop_Mutation_p.*367W	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	470					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						AGTCGCGGTGACGGGGGGAGG	0.627												
SLC27A4	10999	broad.mit.edu	37	9	131122642	131122642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:131122642C>T	uc004but.2	+	13	2088	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	SLC27A4_uc004buu.2_Missense_Mutation_p.R196W	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	602					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GACAGAGCTACGGAAGGAGGG	0.592												
SET	6418	broad.mit.edu	37	9	131454979	131454979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:131454979C>T	uc004bvt.3	+	4	593	c.352C>T	c.(352-354)CAT>TAT	p.H118Y	SET_uc004bvu.3_Missense_Mutation_p.H105Y|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.H94Y	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	118					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGAGGCACTGCATTATTTGAC	0.378			T	NUP214	AML							
LAMC3	10319	broad.mit.edu	37	9	133914404	133914404	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:133914404G>A	uc004caa.1	+	5	1228	c.1130G>A	c.(1129-1131)CGG>CAG	p.R377Q		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	377	Laminin EGF-like 2.				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)		TGGGACCCGCGGATGCCATGC	0.647												
TTF1	7270	broad.mit.edu	37	9	135271838	135271838	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:135271838A>G	uc004cbl.2	-	5	1890	c.1838T>C	c.(1837-1839)GTC>GCC	p.V613A	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.V98A	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	613	Myb-like 1.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTAATTGTTGACATCGAACAT	0.398												
DDX31	64794	broad.mit.edu	37	9	135493777	135493777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:135493777G>A	uc004cbq.1	-	18	2232	c.2080C>T	c.(2080-2082)CAG>TAG	p.Q694*	DDX31_uc010mzu.1_Intron	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	694						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AATACCGTCTGCAAGACTGTG	0.532												
ABCA2	20	broad.mit.edu	37	9	139903448	139903448	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:139903448G>A	uc011mem.1	-	45	7030	c.6882C>T	c.(6880-6882)GAC>GAT	p.D2294D	ABCA2_uc011mel.1_Silent_p.D2295D|ABCA2_uc004ckl.1_Silent_p.D2225D|ABCA2_uc004ckm.1_Silent_p.D2325D	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2294					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)		ACCGCACCACGTCCTTCACAC	0.682												
TPRN	286262	broad.mit.edu	37	9	140087050	140087050	+	Missense_Mutation	SNP	C	C	G	rs77086130		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:140087050C>G	uc004clt.2	-	2	1636	c.1636G>C	c.(1636-1638)GAG>CAG	p.E546Q	TPRN_uc004clu.2_Missense_Mutation_p.E546Q	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	607	Glu-rich.				sensory perception of sound	stereocilium					0						tcctcctcctcctgctggtcc	0.353												
TPRN	286262	broad.mit.edu	37	9	140093702	140093702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:140093702C>T	uc004clt.2	-	1	1279	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	TPRN_uc004clu.2_Missense_Mutation_p.G427R	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	488					sensory perception of sound	stereocilium					0						GCCACGCACCCGGGCCTGGCA	0.642												
EHMT1	79813	broad.mit.edu	37	9	140669655	140669655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:140669655G>A	uc011mfc.1	+	11	1779	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	EHMT1_uc004coa.2_Missense_Mutation_p.R581H|EHMT1_uc004cob.1_Missense_Mutation_p.R550H	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	581					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCGGGGCCGCATGGTGAAG	0.622												
DHRSX	207063	broad.mit.edu	37	X	2139163	2139163	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:2139163G>A	uc004cqf.3	-	7	961	c.912C>T	c.(910-912)CAC>CAT	p.H304H		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	304							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGTAGGTGACGTGGAGGGACT	0.522												
TLR7	51284	broad.mit.edu	37	X	12906073	12906073	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:12906073G>T	uc004cvc.2	+	3	2585	c.2446G>T	c.(2446-2448)GGG>TGG	p.G816W		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	816	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|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|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	GACTTGTGTGGGGCCAGGAGC	0.488												
ASB11	140456	broad.mit.edu	37	X	15306058	15306058	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:15306058C>T	uc004cwp.1	-	6	792	c.792G>A	c.(790-792)GCG>GCA	p.A264A	ASB11_uc004cwo.1_Silent_p.A243A|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.A247A	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	264					intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					CCAGATCAAGCGCACTTTTGC	0.537												
BEND2	139105	broad.mit.edu	37	X	18198717	18198717	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:18198717C>T	uc004cyj.3	-	9	1496	c.1342G>A	c.(1342-1344)GTC>ATC	p.V448I	BEND2_uc010nfb.2_Missense_Mutation_p.V357I	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	448										ovary(3)|kidney(1)|central_nervous_system(1)	5						ATTGTGTTGACGCTGTTTTCC	0.313												
PTCHD1	139411	broad.mit.edu	37	X	23353224	23353224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:23353224C>T	uc004dal.3	+	1	240	c.232C>T	c.(232-234)CGC>TGC	p.R78C	PTCHD1_uc010nfu.1_Missense_Mutation_p.R78C	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	78					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CCCGGTCAACCGCTCCAAGCA	0.642												
CXorf22	170063	broad.mit.edu	37	X	36007458	36007458	+	Silent	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:36007458A>C	uc004ddj.2	+	16	2795	c.2736A>C	c.(2734-2736)TCA>TCC	p.S912S	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	912										large_intestine(1)|lung(1)|ovary(1)	3						CATATTCCTCACTGGAATGTG	0.353												
ZNF182	7569	broad.mit.edu	37	X	47836703	47836703	+	Silent	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:47836703A>G	uc004dir.2	-	7	1129	c.783T>C	c.(781-783)CCT>CCC	p.P261P	ZNF182_uc004dis.2_Silent_p.P242P|ZNF182_uc004dit.2_Silent_p.P261P|ZNF182_uc011mlu.1_Silent_p.P241P	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TACATCCAAAAGGTTTCTCTC	0.413												
ZNF182	7569	broad.mit.edu	37	X	47837005	47837005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:47837005C>T	uc004dir.2	-	7	827	c.481G>A	c.(481-483)GAA>AAA	p.E161K	ZNF182_uc004dis.2_Missense_Mutation_p.E142K|ZNF182_uc004dit.2_Missense_Mutation_p.E161K|ZNF182_uc011mlu.1_Missense_Mutation_p.E141K	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						CCAAATGATTCGTGTTTATCG	0.328												
AKAP4	8852	broad.mit.edu	37	X	49958568	49958568	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:49958568G>C	uc004dow.1	-	5	920	c.796C>G	c.(796-798)CCT>GCT	p.P266A	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.P88A|AKAP4_uc004dou.1_Missense_Mutation_p.P257A	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	266					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TTGCTCGCAGGAGTTCGGGGA	0.493												
SHROOM4	57477	broad.mit.edu	37	X	50377623	50377623	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:50377623A>G	uc004dpe.2	-	4	1476	c.1450T>C	c.(1450-1452)TCT>CCT	p.S484P	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.S368P	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	484					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					AAAACTAAAGACCTGTCATCC	0.522												
PHF8	23133	broad.mit.edu	37	X	53966872	53966872	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:53966872T>A	uc004dsu.2	-	21	2908	c.2835A>T	c.(2833-2835)CAA>CAT	p.Q945H	PHF8_uc004dst.2_Missense_Mutation_p.Q909H|PHF8_uc004dsv.2_Missense_Mutation_p.Q775H|PHF8_uc004dsw.2_Missense_Mutation_p.Q808H	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	945					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GATTGGAGTCTTGAGGGCGAG	0.522												
GNL3L	54552	broad.mit.edu	37	X	54585017	54585017	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:54585017C>T	uc004dth.1	+	15	1734	c.1595C>T	c.(1594-1596)ACG>ATG	p.T532M	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	532					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						ATCATGGAGACGGACCCCCTG	0.582												
FAAH2	158584	broad.mit.edu	37	X	57318993	57318993	+	Silent	SNP	C	C	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:57318993C>A	uc004dvc.2	+	2	404	c.255C>A	c.(253-255)ATC>ATA	p.I85I		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	85						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						ACCCAATGATCAATGGAATTG	0.383										HNSCC(52;0.14)		
SPIN4	139886	broad.mit.edu	37	X	62570006	62570006	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:62570006G>T	uc004dvf.2	-	1	1213	c.693C>A	c.(691-693)TTC>TTA	p.F231L		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	231					gamete generation					ovary(1)|lung(1)	2						CAAACTTAATGAAGTAAACAG	0.408												
HEPH	9843	broad.mit.edu	37	X	65423338	65423338	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:65423338T>C	uc011moz.1	+	13	2279	c.2219T>C	c.(2218-2220)ATC>ACC	p.I740T	HEPH_uc004dwn.2_Missense_Mutation_p.I740T|HEPH_uc004dwo.2_Missense_Mutation_p.I470T|HEPH_uc010nkr.2_Missense_Mutation_p.I548T|HEPH_uc011mpa.1_Missense_Mutation_p.I740T|HEPH_uc010nks.2_Missense_Mutation_p.I29T	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	737	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						ATCTACTATATCATGGCAGAA	0.522												
MED12	9968	broad.mit.edu	37	X	70356310	70356310	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:70356310C>T	uc004dyy.2	+	37	5404	c.5205C>T	c.(5203-5205)CGC>CGT	p.R1735R	MED12_uc011mpq.1_Silent_p.R1735R|MED12_uc004dyz.2_Silent_p.R1735R|MED12_uc004dza.2_Silent_p.R1582R|MED12_uc010nla.2_Silent_p.R361R	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1735	Pro-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CCCGGCCCCGCGCCTATTACC	0.642												
NLGN3	54413	broad.mit.edu	37	X	70367958	70367958	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:70367958C>T	uc004dzd.1	+	1	559	c.359C>T	c.(358-360)CCG>CTG	p.P120L	NLGN3_uc010nlb.1_Missense_Mutation_p.P120L|NLGN3_uc004dzb.2_Missense_Mutation_p.P120L|NLGN3_uc004dzc.2_Missense_Mutation_p.P3L|NLGN3_uc011mps.1_Missense_Mutation_p.P120L|NLGN3_uc011mpr.1_Missense_Mutation_p.P120L	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	120	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					GTCATGCTGCCGGTCTGGTTC	0.582												
LPAR4	2846	broad.mit.edu	37	X	78010799	78010799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:78010799C>T	uc010nme.2	+	2	838	c.433C>T	c.(433-435)CGA>TGA	p.R145*		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						CTATCCTTTTCGATCTCGTAC	0.463												
CYLC1	1538	broad.mit.edu	37	X	83128372	83128372	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:83128372A>C	uc004eei.1	+	4	677	c.656A>C	c.(655-657)AAT>ACT	p.N219T	CYLC1_uc004eeh.1_Missense_Mutation_p.N218T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	219					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ACAAAGAACAATCCAAAGAAA	0.313												
DACH2	117154	broad.mit.edu	37	X	85404095	85404095	+	Silent	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:85404095C>T	uc004eew.2	+	1	641	c.471C>T	c.(469-471)ACC>ACT	p.T157T	DACH2_uc004eex.2_Silent_p.T157T|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						CTTTGTTCACCGATTGCACCA	0.562												
XKRX	402415	broad.mit.edu	37	X	100183284	100183284	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:100183284C>G	uc004egn.2	-	1	615	c.10G>C	c.(10-12)GTT>CTT	p.V4L	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	4						integral to membrane|plasma membrane				breast(1)	1						ATTTCATAAACTCTGTCCATT	0.483												
IL1RAPL2	26280	broad.mit.edu	37	X	104984565	104984565	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:104984565A>C	uc004elz.1	+	8	1685	c.929A>C	c.(928-930)AAA>ACA	p.K310T		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	310	Ig-like C2-type 3.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						CTTGGAGAAAAAGAAGTTGAA	0.443												
IRS4	8471	broad.mit.edu	37	X	107976159	107976159	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:107976159G>A	uc004eoc.2	-	1	3449	c.3416C>T	c.(3415-3417)GCG>GTG	p.A1139V		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1139	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TGCGGCGAGCGCGGAGGCCGC	0.652												
KIAA1210	57481	broad.mit.edu	37	X	118223525	118223525	+	Silent	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:118223525G>A	uc004era.3	-	11	1668	c.1668C>T	c.(1666-1668)AGC>AGT	p.S556S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	556										ovary(4)|skin(1)	5						ATTGTTTAAGGCTTCTTCCTT	0.478												
AKAP14	158798	broad.mit.edu	37	X	119053878	119053878	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:119053878C>T	uc004ese.2	+	6	584	c.446C>T	c.(445-447)GCA>GTA	p.A149V	AKAP14_uc004esf.2_Missense_Mutation_p.A89V	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	149						cytoplasm					0						TTTTAGGATGCACCCATTGTT	0.318												
ODZ1	10178	broad.mit.edu	37	X	123556188	123556188	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:123556188A>G	uc004euj.2	-	23	4448	c.4384T>C	c.(4384-4386)TAC>CAC	p.Y1462H	ODZ1_uc011muj.1_Missense_Mutation_p.Y1468H|ODZ1_uc010nqy.2_Missense_Mutation_p.Y1469H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1462	Extracellular (Potential).				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						GCGATGATGTAGATCTCCCCA	0.493												
MBNL3	55796	broad.mit.edu	37	X	131524939	131524939	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:131524939G>A	uc004ewv.3	-	4	786	c.707C>T	c.(706-708)GCA>GTA	p.A236V	uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.A140V|MBNL3_uc004ews.2_Missense_Mutation_p.A140V|MBNL3_uc004ewt.2_Missense_Mutation_p.A186V|MBNL3_uc011muz.1_Missense_Mutation_p.A140V|MBNL3_uc004ewu.3_Missense_Mutation_p.A236V|MBNL3_uc004ewx.1_Missense_Mutation_p.A186V	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	236	C3H1-type 4.				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					TTGCAAGTGTGCAGGAGGATG	0.483												
ATP2B3	492	broad.mit.edu	37	X	152818528	152818528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:152818528G>A	uc004fht.1	+	11	1985	c.1859G>A	c.(1858-1860)CGG>CAG	p.R620Q	ATP2B3_uc004fhs.1_Missense_Mutation_p.R620Q	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	620	Cytoplasmic (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)					GGCGAACTCCGGGGCTTTCGG	0.597												
F8	2157	broad.mit.edu	37	X	154091411	154091411	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:154091411T>C	uc004fmt.2	-	23	6692	c.6521A>G	c.(6520-6522)CAT>CGT	p.H2174R	F8_uc004fms.2_Missense_Mutation_p.H39R	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2174	F5/8 type C 1.		H -> D (in HEMA).		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)	AATGCTATAATGAGTTGGGTG	0.418												
HOXC13	3229	broad.mit.edu	37	12	54332604	54332604	+	Translation_Start_Site	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:54332604delG	uc001sei.2	+	1	29	c.-86delG	c.(-88--84)ATGGG>ATGG		HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						ggggagggatggggggagggg	0.249			T	NUP98	AML							
DNAH5	1767	broad.mit.edu	37	5	13751371	13751371	+	Splice_Site	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:13751371delT	uc003jfd.2	-	65	11071	c.11029_splice	c.e65-1	p.V3677_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					AACTTTCACCttttttataaa	0.318									Kartagener_syndrome			
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
CEBPZ	10153	broad.mit.edu	37	2	37430154	37430154	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
RNF38	152006	broad.mit.edu	37	9	36342424	36342424	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:36342423_36342423TA>T	uc003zzh.3	-	11	1577	c.1386_splice	c.e11-1	p.L462_splice	RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	462							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACTACACACCTAAAAAAAGCA	0.358												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
PDCD2L	84306	broad.mit.edu	37	19	34904755	34904755	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:34904754_34904754TA>T	uc002nvj.3	+	5	830	c.797_splice	c.e5+2	p.R266_splice		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	266						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GATTTTGAGGTAAAAAAAGGC	0.328												
USP8	9101	broad.mit.edu	37	15	50733661	50733661	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:50733661delA	uc001zym.3	+	4	720	c.220delA	c.(220-222)AAAfs	p.K74fs	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Frame_Shift_Del_p.K74fs|USP8_uc001zyn.3_Frame_Shift_Del_p.K74fs|USP8_uc010ufh.1_Intron|USP8_uc010bev.1_5'UTR	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	74	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TAATCTTATCAAAAAAAGACC	0.318												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					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)		TGTGCCTGCAGGGGGGGTCCC	0.632												
DNAH5	1767	broad.mit.edu	37	5	13751371	13751371	+	Splice_Site	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:13751371delT	uc003jfd.2	-	65	11071	c.11029_splice	c.e65-1	p.V3677_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					AACTTTCACCttttttataaa	0.318									Kartagener_syndrome			
MLXIPL	51085	broad.mit.edu	37	7	73011913	73011913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:73011913delG	uc003tyn.1	-	9	1250	c.1202delC	c.(1201-1203)CCTfs	p.P401fs	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Frame_Shift_Del_p.P401fs|MLXIPL_uc003tyl.1_Frame_Shift_Del_p.P401fs|MLXIPL_uc003tym.1_Frame_Shift_Del_p.P401fs|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Frame_Shift_Del_p.P308fs|MLXIPL_uc003tyq.1_Frame_Shift_Del_p.P143fs	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	401					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTTGGCAGGGGGAGGGTA	0.647												
ARID1A	8289	broad.mit.edu	37	1	27097751	27097751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:27097750_27097750TC>T	uc001bmv.1	+	11	3712	c.3339_3339TC>T	c.(3337-3339)cctfs	p.P1113fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P1113fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P1113fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P730fs|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1113					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		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)		GAGAAGACCCTCCCCCAGACA	0.542			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ZMYM4	9202	broad.mit.edu	37	1	35825031	35825031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:35825030_35825030GT>G	uc001byt.3	+	2	670	c.590_590GT>G	c.(589-591)agtfs	p.S197fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.S165fs|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	197					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAAAGCAGTTTTTTTGAT	0.299												
SPATA6	54558	broad.mit.edu	37	1	48821382	48821382	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:48821381_48821381AT>A	uc001crr.2	-	10	1351	c.1155_1155AT>T	c.(1153-1155)aatfs	p.N385fs	SPATA6_uc001crs.2_Intron|SPATA6_uc010omv.2_Frame_Shift_Del_p.N371fs	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	385					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTTCAAGACATTTTTTACCC	0.303												
C1orf173	127254	broad.mit.edu	37	1	75072496	75072498	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:75072495_75072497CCTT>C	uc001dgg.3	-	9	1496_1498	c.1277_1279AAGG>G	c.(1276-1281)aaggct>aGct	p.426_427KA>S	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_In_Frame_Del_p.220_221KA>S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	426	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCCCTCAGCCTTCTTCAGTTC	0.404												
ADAM30	11085	broad.mit.edu	37	1	120437095	120437096	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:120437094_120437095A>AT	uc001eij.3	-	0	2053_2054	c.1865_1866T>AT	c.(1864-1866)aatfs	p.N622fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	622	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATTGACGCAATTTTTTTTAAA	0.446												
LYSMD1	388695	broad.mit.edu	37	1	151134215	151134215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:151134214_151134214AT>A	uc001ewy.3	-	1	1179	c.543_543AT>T	c.(541-543)aatfs	p.N181fs	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Frame_Shift_Del_p.N133fs	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	181					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTCACCCATTTTCCCCTT	0.458												
SLC27A3	11000	broad.mit.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	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												
ATP1A4	480	broad.mit.edu	37	1	160124898	160124898	+	Frame_Shift_Del	DEL	C	C	-	rs7545350		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:160124897_160124897AC>A	uc001fve.4	+	2	749	c.270_270AC>A	c.(268-270)ccafs	p.P90fs	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	90	Interaction with phosphoinositide-3 kinase (By similarity).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTTACCCCACCCCCCACCA	0.527												
ADCY10	55811	broad.mit.edu	37	1	167865906	167865906	+	Frame_Shift_Del	DEL	G	G	-	rs35604923		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:167865905_167865905TG>T	uc001ger.3	-	6	965	c.667_667CA>A	c.(667-669)aatfs	p.N223fs	ADCY10_uc010plj.2_Frame_Shift_Del_p.N70fs|ADCY10_uc009wvk.3_Frame_Shift_Del_p.N131fs|ADCY10_uc009wvl.3_Frame_Shift_Del_p.N222fs|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	223					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGT	0.333												
SEC16B	89866	broad.mit.edu	37	1	177927333	177927333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:177927332_177927332TG>T	uc001glj.1	-	14	2169	c.1303_1303CA>A	c.(1303-1305)agtfs	p.S435fs	SEC16B_uc001glk.1_Frame_Shift_Del_p.S111fs|SEC16B_uc001glh.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gli.1_Frame_Shift_Del_p.S434fs|SEC16B_uc009wwz.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gll.4_Frame_Shift_Del_p.S435fs	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	434					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACACTGGGGGGGATC	0.567												
HMCN1	83872	broad.mit.edu	37	1	185897784	185897784	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:185897783_185897783AT>A	uc001grq.1	+	9	1765	c.1536_1536AT>A	c.(1534-1536)acafs	p.T512fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	512	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGCACAGACATTTTTTGACG	0.408												
PLEKHA6	22874	broad.mit.edu	37	1	204228512	204228512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:204228511_204228511TC>T	uc001hau.3	-	7	1199	c.882_882GA>A	c.(880-882)ggafs	p.G294fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	294	Pro-rich.							p.G293W(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCCGCCGGTGTCCCCCAGTCT	0.642												
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	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												
TP53BP2	7159	broad.mit.edu	37	1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-	rs146703239		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378												
TMEM63A	9725	broad.mit.edu	37	1	226034781	226034788	+	Frame_Shift_Del	DEL	CTCTGCGC	CTCTGCGC	-	rs145042946		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:226034780_226034787GCTCTGCGC>G	uc001hpm.2	-	23	3000_3007	c.2378_2385GCGCAGAGC>C	c.(2377-2385)gcgcagagcfs	p.A793fs		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	793						integral to membrane|lysosomal membrane	nucleotide binding	p.Q794*(4)|p.L792L(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGCCCGTGGCGCTCTGCGCCAAGCACTG	0.659												
GREM2	64388	broad.mit.edu	37	1	240656607	240656613	+	Frame_Shift_Del	DEL	GGCTGGA	GGCTGGA	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr1:240656606_240656612TGGCTGGA>T	uc021plf.1	-	0	164_170	c.164_170TCCAGCCA>A	c.(163-171)tccagccagfs	p.S55fs	GREM2_uc001hys.3_Frame_Shift_Del_p.S55fs	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	55					BMP signaling pathway	extracellular space	cytokine activity	p.A54D(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CAGGGCCTCCTGGCTGGAGGCCAGCAC	0.671												
TPO	7173	broad.mit.edu	37	2	1457590	1457590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:1457589_1457589GC>G	uc002qwr.3	+	5	692	c.606_606GC>G	c.(604-606)ctgfs	p.L202fs	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Frame_Shift_Del_p.L202fs|TPO_uc002qwx.3_Frame_Shift_Del_p.L202fs|TPO_uc002qwu.3_Frame_Shift_Del_p.L202fs|TPO_uc010yio.2_Frame_Shift_Del_p.L202fs|TPO_uc010yip.2_Frame_Shift_Del_p.L202fs	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	202					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTTCCCACTGCCCCCGGTGG	0.587												
TPO	7173	broad.mit.edu	37	2	1507748	1507748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:1507747_1507747AC>A	uc002qwr.3	+	13	2500	c.2414_2414AC>A	c.(2413-2415)cacfs	p.H805fs	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Frame_Shift_Del_p.H805fs|TPO_uc002qwx.3_Frame_Shift_Del_p.H748fs|TPO_uc002qwu.3_Frame_Shift_Del_p.H748fs|TPO_uc010yio.2_Frame_Shift_Del_p.H632fs|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	805	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.H805L(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGC	0.642												
MCEE	84693	broad.mit.edu	37	2	71351665	71351665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:71351664_71351664GA>G	uc002shs.2	-	1	95	c.50_50TC>C	c.(49-51)tccfs	p.S17fs		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	17					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTGAAGTCTGGAAAAAAGCCC	0.393												
KDM3A	55818	broad.mit.edu	37	2	86697368	86697368	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:86697367_86697367CA>C	uc002sri.4	+	10	1887	c.1560_1560CA>C	c.(1558-1560)ctcfs	p.L520fs	KDM3A_uc010ytj.2_Frame_Shift_Del_p.L520fs|KDM3A_uc010ytk.2_Frame_Shift_Del_p.L468fs	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	520					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L520L(2)|p.L520H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAGCTAAACTCAAAAAGCTGC	0.448												
SEMA4C	54910	broad.mit.edu	37	2	97526594	97526594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:97526593_97526593GC>G	uc002sxg.4	-	12	2662	c.2431_2431GC>C	c.(2431-2433)cccfs	p.P811fs	ANKRD39_uc002sxd.4_5'Flank|SEMA4C_uc002sxf.4_Frame_Shift_Del_p.P258fs|SEMA4C_uc002sxe.3_Frame_Shift_Del_p.P299fs|SEMA4C_uc002sxh.4_Frame_Shift_Del_p.P758fs	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	758					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGCGAAGGGGGCCCCCCACCG	0.597												
GCC2	9648	broad.mit.edu	37	2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308												
DHRS9	10170	broad.mit.edu	37	2	169938088	169938088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:169938087_169938087GA>G	uc010zdc.2	+	1	288	c.176_176GA>G	c.(175-177)ggafs	p.G59fs	DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CACACAGGGGGAAAAATGCTC	0.383												
HECW2	57520	broad.mit.edu	37	2	197085637	197085637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:197085636_197085636AC>A	uc002utm.1	-	24	4359	c.4176_4176GT>T	c.(4174-4176)ggtfs	p.G1392fs	HECW2_uc002utl.1_Frame_Shift_Del_p.G1036fs	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1392	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATATTGGCACCCCCTGGCT	0.393												
CRYGD	1421	broad.mit.edu	37	2	208986445	208986445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:208986444_208986444TG>T	uc002vcn.4	-	2	594	c.478_478CA>A	c.(478-480)acgfs	p.T160fs	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Frame_Shift_Del_p.T160fs	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	160	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTGGCATTCGTGGCCCCCCAG	0.502												
CCDC108	255101	broad.mit.edu	37	2	219883883	219883883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:219883882_219883882CG>C	uc002vjl.1	-	20	3577	c.3493_3493CG>G	c.(3493-3495)gtcfs	p.V1165fs	CCDC108_uc002vjm.3_Frame_Shift_Del_p.V50fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1165						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		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)		GGGGTGAGGACGGGGGGGATC	0.612												
SP100	6672	broad.mit.edu	37	2	231379990	231379990	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr2:231379989_231379989GA>G	uc002vqt.3	+	24	2415	c.2274_2274GA>G	c.(2272-2274)gagfs	p.E758fs	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	758					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGA	0.418												
KIF9	64147	broad.mit.edu	37	3	47316957	47316957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:47316956_47316956CT>C	uc010hjp.3	-	3	722	c.118_118AG>G	c.(118-120)gacfs	p.D40fs	KIF9_uc003cqx.3_Frame_Shift_Del_p.D40fs|KIF9_uc003cqy.3_Frame_Shift_Del_p.D40fs|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript|KIF9_uc003cra.4_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	40	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTCCGAATGTCTTTTTTTAAG	0.363												
ATXN7	6314	broad.mit.edu	37	3	63981710	63981711	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:63981709_63981710CTG>C	uc003dlv.3	+	11	2764_2765	c.2211_2212CTG>C	c.(2209-2214)aactgtfs	p.N737fs	ATXN7_uc003dlw.4_Frame_Shift_Del_p.N737fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.N737fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.N592fs	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	737	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TTAGGAAAAACTGTGTGGCTCA	0.500												
B3GNT5	84002	broad.mit.edu	37	3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGG	0.353												
TNK2	10188	broad.mit.edu	37	3	195595229	195595230	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr3:195595228_195595229C>CG	uc003fvu.1	-	11	2438_2439	c.1895_1896G>CG	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728												
ACOX3	8310	broad.mit.edu	37	4	8407708	8407708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:8407707_8407707GT>G	uc010idk.3	-	6	896	c.751_751AC>C	c.(751-753)ctcfs	p.L251fs	ACOX3_uc003glc.4_Frame_Shift_Del_p.L251fs|ACOX3_uc003gld.4_Frame_Shift_Del_p.L251fs	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	251					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.K250fs*25(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TTCTGCCCGAGTTTTTTTCCT	0.542												
RASGEF1B	153020	broad.mit.edu	37	4	82363492	82363492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:82363491_82363491GT>G	uc003hmi.1	-	8	1112	c.968_968AC>C	c.(967-969)actfs	p.T323fs	RASGEF1B_uc003hmj.1_Frame_Shift_Del_p.T322fs|RASGEF1B_uc010ijq.1_Frame_Shift_Del_p.T281fs	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	323	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTTGGCCCAAGTTTTTTTTAG	0.378												
HELQ	113510	broad.mit.edu	37	4	84374584	84374584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:84374583_84374583AT>A	uc003hom.3	-	1	992	c.813_813AT>T	c.(811-813)aatfs	p.N271fs	HELQ_uc010ikb.3_Frame_Shift_Del_p.N271fs|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_Frame_Shift_Del_p.N165fs|HELQ_uc003hoo.1_Frame_Shift_Del_p.N234fs|HELQ_uc003hop.1_Frame_Shift_Del_p.N165fs|HELQ_uc003hoq.1_Frame_Shift_Del_p.N271fs|MRPS18C_uc003hor.4_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	271							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						CAGTCATGGCATTTTTTAGAT	0.373								Other identified genes with known or suspected DNA repair function				
ADH6	130	broad.mit.edu	37	4	100129893	100129895	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:100129892_100129894ACTT>A	uc003huo.2	-	5	853_855	c.759_761AAGT>T	c.(757-762)gaagtt>gaTt	p.253_254EV>D	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_In_Frame_Del_p.44_45EV>D|ADH6_uc003hup.4_In_Frame_Del_p.253_254EV>D|ADH6_uc010ile.3_In_Frame_Del_p.253_254EV>D	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	253					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATCAAATAAAACTTCTTGAATGG	0.409												
FHDC1	85462	broad.mit.edu	37	4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				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)					GGATGAGAAGCTTTTTTTGGA	0.512												
FNIP2	57600	broad.mit.edu	37	4	159789994	159789995	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr4:159789993_159789994G>GA	uc003iqe.4	+	12	2388_2389	c.2205_2206G>GA	c.(2203-2208)atgaaafs	p.M735fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	735	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AAAGCCGCATGAAAAAAATGGA	0.525												
PDZD2	23037	broad.mit.edu	37	5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574												
GPBP1	65056	broad.mit.edu	37	5	56545258	56545260	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:56545257_56545259TCTC>T	uc003jrk.4	+	7	904_906	c.847_849TCTC>T	c.(847-849)tct>T	p.S283del	GPBP1_uc003jrh.4_In_Frame_Del_p.S276del|GPBP1_uc003jri.4_In_Frame_Del_p.S105del|GPBP1_uc003jrj.4_Intron|GPBP1_uc021xyv.1_In_Frame_Del_p.S105del	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S276F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAATTCCTCTTCTCCTGTTGACA	0.374												
MARVELD2	153562	broad.mit.edu	37	5	68728813	68728813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:68728812_68728812GT>G	uc003jwq.3	+	4	1469	c.1395_1395GT>G	c.(1393-1395)cagfs	p.Q465fs	MARVELD2_uc010ixf.3_Frame_Shift_Del_p.Q453fs|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	465					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TCCAAGACCAGTTTTCAGAGT	0.428												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
PCDHGC5	56097	broad.mit.edu	37	5	140870531	140870531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:140870530_140870530GC>G	uc003lla.2	+	0	1723	c.1723_1723GC>G	c.(1723-1725)gccfs	p.A575fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Frame_Shift_Del_p.A575fs	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	575	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCG	0.592												
C5orf45	51149	broad.mit.edu	37	5	179280382	179280382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr5:179280381_179280381CA>C	uc003mla.3	-	1	167	c.123_123TG>G	c.(121-123)ttgfs	p.L41fs	C5orf45_uc003mky.2_Frame_Shift_Del_p.A12fs|C5orf45_uc011dgt.1_Frame_Shift_Del_p.L41fs|C5orf45_uc011dgu.1_Frame_Shift_Del_p.L41fs|C5orf45_uc003mlc.3_Frame_Shift_Del_p.L41fs|C5orf45_uc003mlb.3_5'UTR	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	41										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GACTCACCTGCAAAAAGGACT	0.463												
CDYL	9425	broad.mit.edu	37	6	4892244	4892244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:4892243_4892243CA>C	uc003mwi.3	+	3	614	c.483_483CA>C	c.(481-483)tccfs	p.S161fs	CDYL_uc003mwj.3_Frame_Shift_Del_p.S107fs|CDYL_uc003mwk.3_Intron|CDYL_uc011dhx.2_5'UTR|CDYL_uc011dhy.2_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	161					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ACCACGAATCCAAAAACAGCC	0.493												
HIVEP1	3096	broad.mit.edu	37	6	12089463	12089464	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:12089462_12089463C>CA	uc003nac.3	+	2	265_266	c.86_87C>CA	c.(85-87)tcafs	p.S29fs		NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	29					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGAAGTTTCAAAAAAAGGTA	0.257												
FANCE	2178	broad.mit.edu	37	6	35425715	35425716	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:35425714_35425715G>GC	uc003oko.1	+	3	1107_1108	c.922_923G>GC	c.(922-924)gccfs	p.A308fs	FANCE_uc010jvw.1_Frame_Shift_Ins_p.A308fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
C6orf89	221477	broad.mit.edu	37	6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431												
GCLC	2729	broad.mit.edu	37	6	53387262	53387262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:53387261_53387261TC>T	uc003pbw.2	-	1	699	c.215_215GA>A	c.(214-216)gagfs	p.E72fs	GCLC_uc021zau.1_Frame_Shift_Del_p.E72fs|GCLC_uc003pbx.3_Frame_Shift_Del_p.E72fs	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	72					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AAGAACTTTCTCCCCAGACAG	0.368												
OGFRL1	79627	broad.mit.edu	37	6	72011492	72011492	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:72011491_72011491CA>C	uc003pfx.1	+	6	1258	c.1095_1095CA>C	c.(1093-1095)gacfs	p.D365fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	365						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAGCTGAAGACAAAAAAGTGG	0.458												
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896234	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:84896232_84896233C>CA	uc010kbp.3	-	11	1315_1316	c.1218_1219G>TG	c.(1216-1221)tttgacfs	p.F406fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.F330fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.F406fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATTTTTGTCAAAAAAAAGGT	0.356												
ENPP3	5169	broad.mit.edu	37	6	132054763	132054766	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:132054762_132054765ACTGT>A	uc003qcu.4	+	21	2335_2338	c.1988_1991ACTGT>A	c.(1987-1992)gactgtfs	p.D663fs	ENPP3_uc003qcv.3_Frame_Shift_Del_p.D663fs|ENPP3_uc010kfq.3_Intron	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	663	Nuclease.				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			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACTGTCCCAGACTGTCTGCGGGCT	0.495												
SMOC2	64094	broad.mit.edu	37	6	169053728	169053728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr6:169053727_169053727CA>C	uc003qwr.2	+	10	1357	c.1137_1137CA>C	c.(1135-1137)ggcfs	p.G379fs	SMOC2_uc003qws.2_Frame_Shift_Del_p.G368fs|SMOC2_uc011egu.2_Frame_Shift_Del_p.G45fs	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	368	EF-hand 1.				signal transduction	basement membrane	calcium ion binding	p.G379D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GAGACATCGGCAAAAAGGAAA	0.453												
ABCB1	5243	broad.mit.edu	37	7	87145866	87145866	+	Frame_Shift_Del	DEL	T	T	-	rs145774816		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:87145865_87145865GT>G	uc003uiz.2	-	24	3537	c.3044_3044AC>C	c.(3043-3045)accfs	p.T1015fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.T951fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1015					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.K1014R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AATCAAAGGGGTTTTTTCAAT	0.448												
TRIM56	81844	broad.mit.edu	37	7	100732113	100732113	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:100732112_100732112TC>T	uc003uxq.3	+	2	1750	c.1519_1519TC>T	c.(1519-1521)tccfs	p.S507fs	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Frame_Shift_Del_p.S507fs	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	507					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACAAGCGGTCCCCCCGGAT	0.657												
CUX1	1523	broad.mit.edu	37	7	101839974	101839975	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:101839973_101839974G>GC	uc003uys.4	+	14	1442_1443	c.1315_1316G>GC	c.(1315-1317)gccfs	p.A439fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCTTTGCCGGCCCCCCCTCCT	0.564												
CTTNBP2	83992	broad.mit.edu	37	7	117424458	117424459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:117424457_117424458A>AG	uc003vjf.3	-	4	2211_2212	c.2119_2120T>CT	c.(2119-2121)ctgfs	p.L707fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	707										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGCCAGCCAGGGGGGCAGGA	0.515												
CPA5	93979	broad.mit.edu	37	7	130007805	130007806	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:130007804_130007805A>AT	uc010lmd.1	+	12	1716_1717	c.1096_1097A>AT	c.(1096-1098)attfs	p.I366fs	CPA5_uc003vps.2_Frame_Shift_Ins_p.I366fs|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Frame_Shift_Ins_p.I366fs|CPA5_uc003vpu.1_Frame_Shift_Ins_p.I366fs|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	366					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GATCGAGTACATTTTTGGCAGC	0.589												
TAS2R41	259287	broad.mit.edu	37	7	143175407	143175408	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:143175406_143175407G>GT	uc003wdc.1	+	0	441_442	c.441_442G>GT	c.(439-444)ctgtttfs	p.L147fs	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	147					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L147L(2)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TAACCCTGCTGTTTTTTTGGGT	0.441												
CUL1	8454	broad.mit.edu	37	7	148464767	148464768	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr7:148464766_148464767G>GA	uc010lpg.3	+	8	1534_1535	c.1008_1009G>GA	c.(1006-1011)ttgaaafs	p.L336fs	CUL1_uc003wey.3_Frame_Shift_Ins_p.L336fs|CUL1_uc003wez.3_Frame_Shift_Ins_p.L226fs	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	336					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)			TAGGAGAATTGAAAAAACTGTT	0.376												
ZFHX4	79776	broad.mit.edu	37	8	77775599	77775599	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr8:77775598_77775598CA>C	uc003yau.2	+	10	10035	c.9648_9648CA>C	c.(9646-9648)cccfs	p.P3216fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAACACCCCAAAAAAGAGG	0.398										HNSCC(33;0.089)		
RECK	8434	broad.mit.edu	37	9	36112461	36112462	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:36112460_36112461C>CA	uc003zyv.3	+	15	2133_2134	c.2047_2048C>CA	c.(2047-2049)caafs	p.Q683fs	RECK_uc003zyw.3_Frame_Shift_Ins_p.Q555fs|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	683						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAATCCCTGCCAAAAAAACCAA	0.416												
RNF38	152006	broad.mit.edu	37	9	36342424	36342424	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:36342423_36342423TA>T	uc003zzh.3	-	11	1577	c.1386_splice	c.e11-1	p.L462_splice	RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	462							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACTACACACCTAAAAAAAGCA	0.358												
INVS	27130	broad.mit.edu	37	9	103054983	103054983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:103054982_103054982CG>C	uc004bap.1	+	13	2655	c.2443_2443CG>C	c.(2443-2445)cggfs	p.R815fs	INVS_uc011lve.1_Frame_Shift_Del_p.R719fs|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Frame_Shift_Del_p.R719fs|INVS_uc010mtb.1_Frame_Shift_Del_p.R489fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	815					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGGCAGTGCCCGGGGGGAGGC	0.587												
CTNNAL1	8727	broad.mit.edu	37	9	111761499	111761499	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr9:111761498_111761498CT>C	uc004bdo.1	-	1	222	c.180_180AG>G	c.(178-180)aagfs	p.K60fs	CTNNAL1_uc004bdp.1_Frame_Shift_Del_p.K60fs	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	60					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTTTATCAGACTTTTTGGTAT	0.328												
GATA3	2625	broad.mit.edu	37	10	8100425	8100425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:8100424_8100424AC>A	uc001ijz.3	+	2	955	c.398_398AC>A	c.(397-399)tacfs	p.Y133fs	GATA3_uc001ika.3_Frame_Shift_Del_p.Y133fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	133					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTCTCCGTCTACCCCCCGGCC	0.716			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""					
DLG5	9231	broad.mit.edu	37	10	79601948	79601948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:79601947_79601947CA>C	uc001jzk.3	-	6	1199	c.1129_1129TG>G	c.(1129-1131)gagfs	p.E377fs	DLG5_uc001jzj.3_Frame_Shift_Del_p.E132fs|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	377					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			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	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)			TGGATCGCCTCAAACCTGGCA	0.647												
BTAF1	9044	broad.mit.edu	37	10	93756247	93756247	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:93756246_93756246AT>A	uc001khr.3	+	23	3528	c.3430_3430AT>A	c.(3430-3432)attfs	p.I1144fs	BTAF1_uc001kht.1_Frame_Shift_Del_p.I582fs	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1144					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AACAATGAATATTTTTTTGGA	0.433												
PIK3AP1	118788	broad.mit.edu	37	10	98469337	98469337	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:98469336_98469336CT>C	uc001kmq.3	-	1	546	c.418_418AG>G	c.(418-420)gccfs	p.A140fs		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	140						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCGGAAATGGCTTTTTTCACA	0.478												
CPXM2	119587	broad.mit.edu	37	10	125514247	125514248	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr10:125514246_125514247ATC>A	uc001lhk.1	-	12	2274_2275	c.1949_1950GAT>T	c.(1948-1950)gatfs	p.D650fs	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	650					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTCCATGTGAATCTCTCACCAA	0.490												
EPS8L2	64787	broad.mit.edu	37	11	723305	723306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:723304_723305A>AC	uc001lqt.3	+	14	1652_1653	c.1405_1406A>AC	c.(1405-1407)accfs	p.T469fs	EPS8L2_uc001lqu.3_Frame_Shift_Ins_p.T469fs|EPS8L2_uc010qwk.2_Frame_Shift_Ins_p.T485fs|EPS8L2_uc001lqv.3_Frame_Shift_Ins_p.T424fs|EPS8L2_uc001lqw.3_Frame_Shift_Ins_p.T81fs|EPS8L2_uc001lqx.3_Frame_Shift_Ins_p.T81fs|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	469						cytoplasm		p.D473fs*30(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGAGCCCACCCCCCCGGGG	0.584											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRIM68	55128	broad.mit.edu	37	11	4621796	4621796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:4621795_4621795TG>T	uc001lzf.2	-	6	1459	c.1169_1169CA>A	c.(1168-1170)cacfs	p.H390fs	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	390	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAATCCATAGTGGGGGGATAA	0.577												
KCNC1	3746	broad.mit.edu	37	11	17794004	17794004	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:17794003_17794003GA>G	uc009yhc.1	+	1	1417	c.1362_1362GA>G	c.(1360-1362)aagfs	p.K454fs	KCNC1_uc001mnk.4_Frame_Shift_Del_p.K454fs	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	454						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACTACCAAAGAAAAAAAAGA	0.502												
DPP3	10072	broad.mit.edu	37	11	66272155	66272156	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:66272154_66272155G>GC	uc001oig.1	+	16	2012_2013	c.1950_1951G>GC	c.(1948-1953)gcgcccfs	p.A650fs	DPP3_uc001oif.1_Frame_Shift_Ins_p.A650fs|DPP3_uc010rpe.1_Frame_Shift_Ins_p.A639fs|BBS1_uc001oih.1_Frame_Shift_Ins_p.R18fs	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579												
CEP57	9702	broad.mit.edu	37	11	95564332	95564332	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:95564331_95564331GA>G	uc001pfp.2	+	10	1652	c.1414_1414GA>G	c.(1414-1416)gaafs	p.E472fs	CEP57_uc009ywn.2_Frame_Shift_Del_p.E320fs|CEP57_uc010ruh.2_Frame_Shift_Del_p.E463fs|CEP57_uc001pfq.2_Frame_Shift_Del_p.E446fs|CEP57_uc001pfr.2_Frame_Shift_Del_p.E320fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	472	Mediates interaction with microtubules (By similarity).				G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGACCTGGAGAAAAAAGGAG	0.378									Mosaic Variegated Aneuploidy Syndrome			
ACAT1	38	broad.mit.edu	37	11	108004588	108004588	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:108004587_108004587CT>C	uc001pjy.3	+	2	237	c.161_161CT>C	c.(160-162)tctfs	p.S54fs	ACAT1_uc001pjw.1_Frame_Shift_Del_p.S54fs|ACAT1_uc001pjx.3_5'UTR	NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	54					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CCCATTGGATCTTTTTTAGGC	0.408												
RDX	5962	broad.mit.edu	37	11	110104137	110104137	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr11:110104136_110104136AG>A	uc009yxy.3	-	12	1723	c.1413_1413CT>T	c.(1411-1413)cctfs	p.P471fs	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Frame_Shift_Del_p.P124fs|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Frame_Shift_Del_p.P5fs|RDX_uc001pkt.3_Frame_Shift_Del_p.P125fs|RDX_uc001pku.3_Frame_Shift_Del_p.P471fs|RDX_uc010rwe.2_Frame_Shift_Del_p.P335fs	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	471	Glu-rich.|Poly-Pro.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAG	0.433												
CMAS	55907	broad.mit.edu	37	12	22213771	22213771	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:22213770_22213770GA>G	uc001rfm.3	+	4	777	c.698_698GA>G	c.(697-699)ggafs	p.G233fs	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	233					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTTAGGGTGGAAAAATGGCA	0.303												
GXYLT1	283464	broad.mit.edu	37	12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A	rs78939583		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327												
MLL2	8085	broad.mit.edu	37	12	49445500	49445500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	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)		
SACS	26278	broad.mit.edu	37	13	23915417	23915417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:23915416_23915416AT>A	uc001uon.2	-	9	3188	c.2599_2599AT>T	c.(2599-2601)tatfs	p.Y867fs	SACS_uc001uoo.2_Frame_Shift_Del_p.Y720fs|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.	867					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)		GAATGAATATATTTTTTAATA	0.343												
CDC16	8881	broad.mit.edu	37	13	115037720	115037720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr13:115037719_115037719TA>T	uc001vuk.1	+	17	1862	c.1664_1664TA>T	c.(1663-1665)ctafs	p.L555fs	CDC16_uc001vul.1_Frame_Shift_Del_p.L555fs|CDC16_uc001vum.1_Frame_Shift_Del_p.L461fs|CDC16_uc001vun.1_Frame_Shift_Del_p.L554fs|CDC16_uc001vuo.1_Frame_Shift_Del_p.L503fs	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	555					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATGAAGACACTAAAAAACATT	0.328												
LTB4R2	56413	broad.mit.edu	37	14	24780905	24780905	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:24780904_24780904CG>C	uc021rrp.1	+	0	1034	c.1034_1034CG>C	c.(1033-1035)ccgfs	p.P345fs	CIDEB_uc001woo.3_5'Flank|CIDEB_uc001wop.3_5'Flank|LTB4R2_uc010alo.3_Frame_Shift_Del_p.P345fs|LTB4R2_uc001wor.3_Frame_Shift_Del_p.P345fs|LTB4R_uc001wos.3_5'UTR|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	376					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AATGGAGACCCGGGGGGTGGG	0.672												
TTLL5	23093	broad.mit.edu	37	14	76156622	76156622	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:76156621_76156621TC>T	uc010ask.2	+	5	733	c.458_458TC>T	c.(457-459)ctcfs	p.L153fs	TTLL5_uc001xrw.2_Frame_Shift_Del_p.L153fs|TTLL5_uc001xrx.3_Frame_Shift_Del_p.L153fs	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	153	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTCACATCCTCCCCCAGACC	0.458												
SERPINA5	5104	broad.mit.edu	37	14	95053821	95053821	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:95053820_95053820GC>G	uc001ydm.2	+	2	331	c.121_121GC>G	c.(121-123)gccfs	p.A41fs	SERPINA5_uc010ave.2_Frame_Shift_Del_p.A41fs|SERPINA5_uc001ydn.1_Frame_Shift_Del_p.A41fs	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	41					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCCACGGTGGCCCCCAGCAG	0.622												
BAG5	9529	broad.mit.edu	37	14	104026528	104026528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr14:104026527_104026527GT>G	uc021seg.1	-	0	975	c.975_975AC>C	c.(973-975)aacfs	p.N325fs	KLC1_uc010tyd.1_5'Flank|BAG5_uc001yni.2_Frame_Shift_Del_p.N325fs|BAG5_uc001ynh.2_Frame_Shift_Del_p.N366fs|BAG5_uc001ynj.2_Frame_Shift_Del_p.N325fs|KLC1_uc010tyc.2_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Homo sapiens BCL2-associated athanogene 5 (BAG5), transcript variant 2, mRNA.	325	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GGATGCAGGGGTTTTTTTCAA	0.443												
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-	rs11553044		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614												
B2M	567	broad.mit.edu	37	15	45007834	45007834	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:45007833_45007833GA>G	uc001zuc.3	+	1	340	c.280_280GA>G	c.(280-282)gaafs	p.E94fs	B2M_uc010uek.1_Frame_Shift_Del_p.E94fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	94	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.E94K(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGA	0.423												
SPG21	51324	broad.mit.edu	37	15	65262526	65262526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:65262525_65262525AT>A	uc002aod.3	-	5	581	c.488_488AT>T	c.(487-489)atafs	p.I163fs	SPG21_uc002aoe.3_Frame_Shift_Del_p.I163fs|SPG21_uc010bhb.3_Frame_Shift_Del_p.I136fs	NM_001127889	NP_057714	Q9NZD8	SPG21_HUMAN	Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA.	163					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCCAAGAACTATTTTTTTGAG	0.398												
PIAS1	8554	broad.mit.edu	37	15	68479955	68479955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:68479954_68479954GT>G	uc002aqz.3	+	13	1830	c.1737_1737GT>G	c.(1735-1737)cggfs	p.R579fs		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	579	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACTCGTCTCGGTTTTTCCCGT	0.488												
MCTP2	55784	broad.mit.edu	37	15	94901802	94901803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr15:94901801_94901802T>TG	uc002btj.3	+	8	1326_1327	c.1261_1262T>TG	c.(1261-1263)tggfs	p.W421fs	MCTP2_uc010urg.1_3'UTR|MCTP2_uc002bti.2_Frame_Shift_Ins_p.W421fs|MCTP2_uc010boj.3_Frame_Shift_Ins_p.W150fs|MCTP2_uc010bok.3_Frame_Shift_Ins_p.W421fs|MCTP2_uc002btk.4_Frame_Shift_Ins_p.W9fs|MCTP2_uc002btl.3_Frame_Shift_Ins_p.W9fs	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	421	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTGAAGTGTGGGGAAAGGAC	0.500												
ADCY9	115	broad.mit.edu	37	16	4039076	4039076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:4039075_4039075TA>T	uc002cvx.3	-	5	2769	c.2230_2230TA>A	c.(2230-2232)aagfs	p.K744fs		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	744					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATGGGCGGCTTAAAAAAGTAA	0.448												
GTF3C1	2975	broad.mit.edu	37	16	27509009	27509009	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:27509008_27509008CT>C	uc002dov.2	-	13	2340	c.2300_2300AG>G	c.(2299-2301)agtfs	p.S767fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.S767fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	767						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATTATCACTTTTTTTCAT	0.433												
RBL2	5934	broad.mit.edu	37	16	53504727	53504727	+	Frame_Shift_Del	DEL	A	A	-	rs67367291		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:53504726_53504726GA>G	uc002ehi.4	+	16	2713	c.2595_2595GA>G	c.(2593-2595)aggfs	p.R865fs	RBL2_uc002ehj.3_Frame_Shift_Del_p.R575fs|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	865	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGAATTGAGGAAAAAAATCT	0.378												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
NEK8	284086	broad.mit.edu	37	17	27068996	27068996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27068995_27068995TC>T	uc002hcp.3	+	14	2069	c.2069_2069TC>T	c.(2068-2070)gtcfs	p.V690fs	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	690						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGA	0.582												
SEZ6	124925	broad.mit.edu	37	17	27284483	27284483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:27284482_27284482GC>G	uc002hdp.2	-	11	2572	c.2378_2378GC>C	c.(2377-2379)gccfs	p.A793fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Del_p.A793fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.A668fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	793	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TTGCACGGTGGCCCCCACGGG	0.602												
NF1	4763	broad.mit.edu	37	17	29552144	29552144	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:29552143_29552143CT>C	uc002hgg.3	+	16	2259	c.1876_1876CT>C	c.(1876-1878)cttfs	p.L626fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L626fs|NF1_uc010csn.2_Frame_Shift_Del_p.L486fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	626					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCACTTTCTCCTTTTTTACGG	0.388			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
GPR179	440435	broad.mit.edu	37	17	36486047	36486047	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:36486046_36486046TG>T	uc002hpz.3	-	10	3427	c.3406_3406CA>A	c.(3406-3408)aagfs	p.K1136fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1136						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCACCGCCTTGGGCCGGCCT	0.622												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>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)					TATGGCAGCTACCCCCCCGGC	0.602												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
USP14	9097	broad.mit.edu	37	18	203146	203147	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:203145_203146A>AT	uc002kkf.1	+	11	1206_1207	c.990_991A>AT	c.(988-993)cgatttfs	p.R330fs	USP14_uc002kkg.1_Frame_Shift_Ins_p.R295fs|USP14_uc010wyr.1_Frame_Shift_Ins_p.R319fs	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	330					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGATGGTTCGATTTTTTTATAA	0.342												
EPB41L3	23136	broad.mit.edu	37	18	5406836	5406836	+	Frame_Shift_Del	DEL	G	G	-	rs142982382		TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:5406835_5406835CG>C	uc002kmt.1	-	15	2376	c.2290_2290CG>G	c.(2290-2292)gtgfs	p.V764fs	EPB41L3_uc010wzh.1_Frame_Shift_Del_p.V595fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.V583fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.V474fs|EPB41L3_uc002kms.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010wze.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010wzf.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010wzg.1_Frame_Shift_Del_p.V36fs|EPB41L3_uc010dkr.2_Frame_Shift_Del_p.V156fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	764	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCCAGTCGCACGGGGGAGGTG	0.512												
ZNF521	25925	broad.mit.edu	37	18	22805689	22805689	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:22805688_22805688CA>C	uc002kvk.2	-	3	2441	c.2194_2194TG>G	c.(2194-2196)gacfs	p.D732fs	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Frame_Shift_Del_p.D732fs|ZNF521_uc002kvl.2_Frame_Shift_Del_p.D512fs	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	732					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTTTTGAGTCAAAAACTTCC	0.468			T	PAX5	ALL							
PIAS2	9063	broad.mit.edu	37	18	44416357	44416358	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr18:44416356_44416357T>TCA	uc002lck.3	-	8	1352_1353	c.1165_1166A>TGA	c.(1165-1167)gacfs	p.D389fs	PIAS2_uc010dnp.3_Frame_Shift_Ins_p.D87fs|PIAS2_uc010xda.2_Frame_Shift_Ins_p.D87fs|PIAS2_uc002lcl.3_Frame_Shift_Ins_p.D389fs|PIAS2_uc002lcm.3_Frame_Shift_Ins_p.D389fs|PIAS2_uc002lcn.1_Frame_Shift_Ins_p.D393fs	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	389					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGCTTTTTTGTCACACACAGGA	0.416												
CIB3	117286	broad.mit.edu	37	19	16275720	16275721	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:16275719_16275720T>TA	uc002nds.3	-	4	351_352	c.351_352A>TA	c.(349-354)tttaacfs	p.F117fs	CIB3_uc010eae.3_Frame_Shift_Ins_p.F56fs|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Frame_Shift_Ins_p.F68fs	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	117	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGTCGTTGTTAAAATCTGCAG	0.579												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
PDCD2L	84306	broad.mit.edu	37	19	34904755	34904755	+	Splice_Site	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:34904754_34904754TA>T	uc002nvj.3	+	5	830	c.797_splice	c.e5+2	p.R266_splice		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	266						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GATTTTGAGGTAAAAAAAGGC	0.328												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					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						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
CACNG7	59284	broad.mit.edu	37	19	54444809	54444809	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr19:54444808_54444808AT>A	uc002qcr.2	+	3	604	c.509_509AT>A	c.(508-510)tatfs	p.Y170fs	CACNG7_uc010era.2_Frame_Shift_Del_p.Y170fs	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	170					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|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCTGAGCAGTATTTTCATTAT	0.542												
FASTKD5	60493	broad.mit.edu	37	20	3128001	3128001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:3128000_3128000GC>G	uc021vzx.1	-	0	1717	c.1717_1717GC>C	c.(1717-1719)cccfs	p.P573fs	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Frame_Shift_Del_p.P573fs	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	573					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGC	0.438												
CD93	22918	broad.mit.edu	37	20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:23065991_23065991TC>T	uc002wsv.3	-	0	987	c.839_839GA>A	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTC	0.632												
TGIF2	60436	broad.mit.edu	37	20	35219539	35219539	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr20:35219538_35219538GA>G	uc021wcv.1	+	2	632	c.418_418GA>G	c.(418-420)gaafs	p.E140fs	TGIF2_uc021wcu.1_Frame_Shift_Del_p.E140fs|TGIF2_uc002xfn.3_Frame_Shift_Del_p.E140fs|TGIF2_uc021wcw.1_Frame_Shift_Del_p.E140fs|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	140	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E140K(2)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGCCAGGGGGAAAAGCCAGC	0.647												
IFNAR1	3454	broad.mit.edu	37	21	34721401	34721401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:34721400_34721400CT>C	uc002yrn.3	+	6	939	c.792_792CT>C	c.(790-792)gccfs	p.A264fs	IFNAR1_uc011adv.2_Frame_Shift_Del_p.A195fs	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	264	Fibronectin type-III 2.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTAAAAGCGCCTTTTTAAAAA	0.303												
PTTG1IP	754	broad.mit.edu	37	21	46275129	46275129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr21:46275128_46275128AT>A	uc002zgb.2	-	4	780	c.493_493AT>T	c.(493-495)tatfs	p.Y165fs	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	165					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCCTTACCATATTTTTTTCTG	0.507												
TST	7263	broad.mit.edu	37	22	37407108	37407108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chr22:37407107_37407107TG>T	uc003aqg.3	-	1	1550	c.855_855CA>A	c.(853-855)ccafs	p.P285fs	TST_uc003aqh.3_Frame_Shift_Del_p.P285fs	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	285	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CACGGCTCTCTGGGGGGGCCC	0.627												
GPM6B	2824	broad.mit.edu	37	X	13791024	13791025	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:13791023_13791024C>CT	uc004cvw.3	-	7	1254_1255	c.963_964G>AG	c.(961-966)aaagaafs	p.K321fs	GPM6B_uc004cvx.3_Frame_Shift_Ins_p.K262fs|GPM6B_uc011mim.2_Frame_Shift_Ins_p.K295fs	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	0					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TTGAGTTGTTCTTTTGACCGAG	0.431												
DMD	1756	broad.mit.edu	37	X	32361293	32361294	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:32361292_32361293A>AT	uc004dda.1	-	39	5941_5942	c.5697_5698T>AT	c.(5695-5700)aaattafs	p.K1899fs	DMD_uc004dcw.2_Frame_Shift_Ins_p.K555fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.K558fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.K1776fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.K1895fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.K1891fs|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1899	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			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		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)				AGGCTGGCTAATTTTTTTTCAA	0.356												
CXorf59	286464	broad.mit.edu	37	X	36122661	36122662	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:36122660_36122661G>GC	uc004ddk.1	+	7	1083_1084	c.897_898G>GC	c.(895-900)atgcccfs	p.M299fs		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	299						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						GCAATAATATGCCCCCCATATG	0.351												
GPR82	27197	broad.mit.edu	37	X	41586415	41586415	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:41586414_41586414TA>T	uc022bvd.1	+	0	135	c.135_135TA>T	c.(133-135)ggtfs	p.G45fs	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Frame_Shift_Del_p.G45fs	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CAAAAATAGGTAAAAAAACAT	0.373												
FAM123B	139285	broad.mit.edu	37	X	63412648	63412648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:63412647_63412647TA>T	uc022byb.1	-	0	520	c.520_520TA>A	c.(520-522)agcfs	p.S174fs	FAM123B_uc004dvo.3_Frame_Shift_Del_p.S174fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	174					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)|p.F173fs*36(4)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CGGATACTGCTAAAAAAGCCT	0.557												
TAF7L	54457	broad.mit.edu	37	X	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:100538466_100538466GT>G	uc004ehb.3	-	3	535	c.509_509AC>C	c.(508-510)accfs	p.T170fs	TAF7L_uc004eha.3_Frame_Shift_Del_p.T84fs|TAF7L_uc004ehc.2_Frame_Shift_Del_p.T84fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTATAAAAGGTTTTTTTATC	0.393												
ZCCHC12	170261	broad.mit.edu	37	X	117960136	117960137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:117960135_117960136T>TC	uc004equ.3	+	3	1401_1402	c.928_929T>TC	c.(928-930)tccfs	p.S310fs	ZCCHC12_uc022cdh.1_Frame_Shift_Ins_p.S310fs	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.S310S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564												
IRAK1	3654	broad.mit.edu	37	X	153281967	153281967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:153281966_153281966GC>G	uc004fjs.1	-	8	1237	c.1158_1158GC>C	c.(1156-1158)ggcfs	p.G386fs	IRAK1_uc004fjr.1_Frame_Shift_Del_p.G386fs|IRAK1_uc004fjt.1_Frame_Shift_Del_p.G386fs|IRAK1_uc004fju.2_Frame_Shift_Del_p.G412fs	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	386	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|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|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCAGGGTGCCCCGCACTG	0.657												
DKC1	1736	broad.mit.edu	37	X	153995316	153995316	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8382-01A-11D-2394-08	TCGA-BR-8382-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe42ed1d-e913-4214-a3a4-7baf5288dbb7	a0801674-6113-406a-af1c-7e4f6c61d55f	g.chrX:153995315_153995315AG>A	uc004fmm.3	+	5	702	c.492_492AG>A	c.(490-492)gaafs	p.E164fs	DKC1_uc010nvf.3_Frame_Shift_Del_p.E164fs|SNORA36A_uc004fmn.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	164					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)					ATGCTATTGAAGGGGGGACCC	0.473									Congenital Dyskeratosis