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
MTHFR	4524	broad.mit.edu	37	1	11850780	11850780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:11850780delA	uc001atb.1	-	10	2195	c.1997delT	c.(1996-1998)ctcfs	p.L666fs	MTHFR_uc001atc.2_Frame_Shift_Del_p.L643fs	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	643					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)	GGGCCTGTTGAGAAGCTCCAA	0.582												
HFM1	164045	broad.mit.edu	37	1	91784871	91784871	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:91784871G>A	uc001doa.4	-	23	2758	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.H566Y|HFM1_uc001dob.4_Missense_Mutation_p.H119Y|HFM1_uc010osv.1_Missense_Mutation_p.H571Y	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	887	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CGGGAGCCATGTCTGAAAATC	0.323												
SPRR4	163778	broad.mit.edu	37	1	152944576	152944576	+	Silent	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:152944576C>T	uc001fav.1	+	1	273	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SPRR4_uc021ozm.1_Silent_p.A70A	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	70	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCCCTCAGCCCAGCAAGCCT	0.522												
KCNH1	3756	broad.mit.edu	37	1	211093222	211093222	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:211093222C>T	uc001hib.2	-	6	1392	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	KCNH1_uc001hic.2_Missense_Mutation_p.E381K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	408					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTGGTGTCCTCGTCAAAGATC	0.547												
DUX4L3	653544	broad.mit.edu	37	10	135491113	135491113	+	Missense_Mutation	SNP	G	G	A	rs150899513	by1000genomes	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr10:135491113G>A	uc021qbj.1	+						DUX4L3_uc010qvh.1_Missense_Mutation_p.A242T|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GGTCGCCTTCGCCCACACCGG	0.776												
OR4D5	219875	broad.mit.edu	37	11	123810393	123810393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr11:123810393C>T	uc001pzk.1	+	0	70	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGGGAGCTTCGGTTTGTTTT	0.468												
PTPN11	5781	broad.mit.edu	37	12	112910837	112910837	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr12:112910837C>G	uc001ttx.3	+	6	1226	c.846C>G	c.(844-846)atC>atG	p.I282M	PTPN11_uc001ttw.1_Missense_Mutation_p.I282M	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	282	Tyrosine-protein phosphatase.		I -> V (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.I282M(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ataaaaacaTCCTGCCCTGTA	0.403			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome			
NRL	4901	broad.mit.edu	37	14	24550696	24550696	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr14:24550696C>G	uc001wlo.3	-	2	594	c.463G>C	c.(463-465)Gac>Cac	p.D155H	NRL_uc021rrk.1_Missense_Mutation_p.R62P|NRL_uc001wlp.3_Missense_Mutation_p.D155H|NRL_uc001wlq.3_Missense_Mutation_p.D155H	NM_006177	NP_006168	P54845	NRL_HUMAN	Homo sapiens neural retina leucine zipper (NRL), mRNA.	155					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		AGCGCCTCGTCGCGCCCGCAG	0.711												
BNIP3P1	319138	broad.mit.edu	37	14	28734126	28734126	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr14:28734126G>A								BC148262 (591701 upstream) : FOXG1 (502161 downstream)																							TGGTCAAGTCGGCCGGAAAAT	0.478												
KIAA0284	283638	broad.mit.edu	37	14	105360904	105360904	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr14:105360904C>T	uc001yps.3	+	16	4597	c.4291C>T	c.(4291-4293)Cgg>Tgg	p.R1431W	KIAA0284_uc010axb.3_Missense_Mutation_p.R1396W|KIAA0284_uc001ypt.3_Missense_Mutation_p.R134W	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1501						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		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)		GGAACTGAGGCGGGTGCAGAA	0.632												
CSPG4	1464	broad.mit.edu	37	15	75982433	75982433	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:75982433C>T	uc002baw.3	-	2	1066	c.973G>A	c.(973-975)Ggg>Agg	p.G325R		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	325	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCAGCCCCCCGAGAAGGAGA	0.627												
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:78211648A>G	uc010bky.2	-	10	883	c.119T>C	c.(118-120)cTa>cCa	p.L40P						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CGCCAGGGATAGGGGCTCAGC	0.522												
AKAP13	11214	broad.mit.edu	37	15	86076975	86076975	+	Missense_Mutation	SNP	C	C	A	rs34574206		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:86076975C>A	uc002blv.1	+	3	512	c.342C>A	c.(340-342)aaC>aaA	p.N114K	AKAP13_uc002bls.3_Missense_Mutation_p.N114K|AKAP13_uc002blt.1_Missense_Mutation_p.N114K|AKAP13_uc002blu.1_Missense_Mutation_p.N114K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	114					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			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGCTTTGAACTTTACCCGTT	0.498												
FAM169B	283777	broad.mit.edu	37	15	99023998	99023998	+	Silent	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:99023998C>T	uc002buk.1	-	3	265	c.15G>A	c.(13-15)tcG>tcA	p.S5S		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	5										large_intestine(3)|lung(3)|urinary_tract(1)	7						TTTCCCCAAACGACTGAACCT	0.378												
INPP5K	51763	broad.mit.edu	37	17	1417264	1417264	+	Silent	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr17:1417264G>A	uc002fsr.3	-	1	443	c.54C>T	c.(52-54)gtC>gtT	p.V18V	INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_Intron|INPP5K_uc010vqm.2_Silent_p.V18V|INPP5K_uc010cjs.2_Silent_p.V18V|LOC100306951_uc021tne.1_5'Flank	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	18	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCAAGTCACGACGTGTATGC	0.547												
RPTOR	57521	broad.mit.edu	37	17	78938060	78938060	+	Splice_Site	SNP	A	A	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr17:78938060A>G	uc002jyt.1	+	34	4745	c.3940_splice	c.e34-2	p.P1314_splice	RPTOR_uc010wug.1_Splice_Site_p.P1156_splice|RPTOR_uc002jyu.1_Splice_Site_p.P207_splice	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1314					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCTCCTTGCAGCCTCACCTG	0.677												
DSC2	1824	broad.mit.edu	37	18	28671091	28671091	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:28671091G>T	uc002kwl.4	-	3	828	c.374C>A	c.(373-375)aCt>aAt	p.T125N	DSC2_uc002kwk.4_Missense_Mutation_p.T125N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	125					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTTTTCTTTAGTATGTCTTTT	0.368												
ONECUT2	9480	broad.mit.edu	37	18	55143848	55143848	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:55143848G>A	uc002lgo.3	+	1	1440	c.1408G>A	c.(1408-1410)Gtc>Atc	p.V470I		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	470					organ morphogenesis	nucleus	sequence-specific DNA binding	p.V470I(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCTCACAACCGTCAGCAACTT	0.587												
SERPINB13	5275	broad.mit.edu	37	18	61256912	61256912	+	Missense_Mutation	SNP	C	C	T	rs61733412	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:61256912C>T	uc010xep.2	+	2	356	c.188C>T	c.(187-189)aCg>aTg	p.T63M	SERPINB13_uc002ljc.3_Missense_Mutation_p.T63M|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	63					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAAAAGAGACGAAGAGCTCA	0.418												
ZNF407	55628	broad.mit.edu	37	18	72775723	72775723	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:72775723G>A	uc002llw.2	+	7	6099	c.6046G>A	c.(6046-6048)Gcc>Acc	p.A2016T		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	2016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGGCCCGGCGCCAAAGACGT	0.672												
PLIN4	729359	broad.mit.edu	37	19	4511532	4511532	+	Missense_Mutation	SNP	C	C	T	rs71263980		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:4511532C>T	uc002mar.1	-	2	2398	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	800	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCATCTGGACGGCCCCCTTG	0.612												
KHSRP	8570	broad.mit.edu	37	19	6418513	6418513	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:6418513C>T	uc002mer.4	-	8	970	c.860G>A	c.(859-861)gGg>gAg	p.G287E	KHSRP_uc021unp.1_5'Flank	NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	287	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTAAGGATCCCCAATGATGCG	0.567												
CYP4F11	57834	broad.mit.edu	37	19	16024697	16024697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:16024697C>T	uc002nbu.2	-	12	1456	c.1420G>A	c.(1420-1422)Gcc>Acc	p.A474T	CYP4F11_uc010eab.1_Missense_Mutation_p.R452H|CYP4F11_uc002nbt.2_Missense_Mutation_p.A474T	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	474					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCAGCCATGGCGAACGCCTGC	0.617												
LILRB4	11006	broad.mit.edu	37	19	55175475	55175475	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:55175475C>A	uc002qgp.3	+	2	696	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	LILRB4_uc002qgo.1_Missense_Mutation_p.P153T|LILRB4_uc002qgq.3_Missense_Mutation_p.P112T|LILRB4_uc010ers.1_Missense_Mutation_p.P25T|LILRB4_uc010ert.3_Missense_Mutation_p.P153T|LILRB4_uc010eru.3_Missense_Mutation_p.P141T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	112	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GCCCAGTGACCCCCTGGAGCT	0.602												
FAM98A	25940	broad.mit.edu	37	2	33813426	33813426	+	Silent	SNP	T	T	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:33813426T>C	uc002rpa.1	-	3	572	c.498A>G	c.(496-498)caA>caG	p.Q166Q	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.Q43Q	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	166										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CGCTGAAGAATTGGAACATAG	0.363												
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612												
TTN	7273	broad.mit.edu	37	2	179542567	179542567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:179542567delC	uc021vsy.1	-	142	30565	c.30340delG	c.(30340-30342)gttfs	p.V10114fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V6775fs|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11041	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCAGGAACAATTTCTTCT	0.413												
CCDC108	255101	broad.mit.edu	37	2	219870881	219870883	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:219870881_219870883delGGG	uc002vjl.1	-	30	4866_4868	c.4782_4784delCCC	c.(4780-4785)acccca>aca	p.P1595del		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1595						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)		CTCCTCCTTTGGGGTCTGCAGTT	0.626												
COL6A3	1293	broad.mit.edu	37	2	238253186	238253186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:238253186G>A	uc002vwl.2	-	35	7760	c.7475C>T	c.(7474-7476)tCg>tTg	p.S2492L	COL6A3_uc002vwo.2_Missense_Mutation_p.S2286L|COL6A3_uc010znj.1_Missense_Mutation_p.S1885L|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.S313L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2492	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCACAAACGACATGGCAGT	0.507												
PDYN	5173	broad.mit.edu	37	20	1961118	1961118	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr20:1961118G>A	uc010gaj.3	-	2	858	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.R206C|PDYN_uc021vzt.1_Missense_Mutation_p.R206C|PDYN_uc021vzu.1_Missense_Mutation_p.R206C|PDYN_uc002wfv.3_Missense_Mutation_p.R206C	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	206					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R206H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGTACAGG	0.592												
RBPJL	11317	broad.mit.edu	37	20	43940278	43940278	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr20:43940278G>A	uc002xns.3	+	3	379	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	RBPJL_uc002xnt.3_Missense_Mutation_p.V103M	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	103					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				TGGCTGGAGGGTGAAGCCAGG	0.642											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NFATC2	4773	broad.mit.edu	37	20	50051820	50051820	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr20:50051820C>G	uc002xwd.3	-	7	2157	c.1937G>C	c.(1936-1938)cGg>cCg	p.R646P	NFATC2_uc002xwc.3_Missense_Mutation_p.R646P|NFATC2_uc010zyv.2_Missense_Mutation_p.R427P|NFATC2_uc010zyw.2_Missense_Mutation_p.R427P|NFATC2_uc002xwe.3_Missense_Mutation_p.R626P|NFATC2_uc010zyx.2_Missense_Mutation_p.R626P|NFATC2_uc010zyy.2_Missense_Mutation_p.R427P|NFATC2_uc010zyz.2_Missense_Mutation_p.R427P	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	646					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.R646L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATGCTTGTTCCGATATTCAGG	0.443												
POTED	317754	broad.mit.edu	37	21	14982933	14982933	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr21:14982933C>A	uc002yjb.1	+	0	436	c.384C>A	c.(382-384)ttC>ttA	p.F128L		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	128						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACAGCGCCTTCATGGAGCCGA	0.597												
KRTAP13-1	140258	broad.mit.edu	37	21	31768833	31768833	+	Silent	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr21:31768833C>T	uc002yoa.3	+	0	442	c.429C>T	c.(427-429)ggC>ggT	p.G143G		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	143						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGGCTATGGCGTTGGATTCT	0.542												
SLC4A7	9497	broad.mit.edu	37	3	27418278	27418278	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:27418278C>T	uc011aww.2	-	25	3978	c.3757G>A	c.(3757-3759)Gtg>Atg	p.V1253M	SLC4A7_uc011awx.2_Missense_Mutation_p.V1240M|SLC4A7_uc021wun.1_Missense_Mutation_p.V1129M|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.V1200M|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.V1089M|SLC4A7_uc011axb.2_Missense_Mutation_p.V1204M|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.V1125M|SLC4A7_uc010hfl.3_Missense_Mutation_p.V794M|SLC4A7_uc003cdv.3_Missense_Mutation_p.V1208M|SLC4A7_uc003cdw.3_Missense_Mutation_p.V1084M	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1208						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TCAGCATCCACGTATTTCTTT	0.259												
PXK	54899	broad.mit.edu	37	3	58385105	58385105	+	Splice_Site	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:58385105G>A	uc003djz.1	+	12	1280	c.1181_splice	c.e12+1	p.P394_splice	PXK_uc003djx.1_Splice_Site_p.P394_splice|PXK_uc003dka.1_Splice_Site_p.P394_splice|PXK_uc003dkb.1_Splice_Site_p.P311_splice|PXK_uc003dkc.1_Splice_Site_p.P377_splice|PXK_uc011bfe.1_Splice_Site_p.P361_splice|PXK_uc010hnj.1_Splice_Site_p.P361_splice|PXK_uc003dkd.1_Splice_Site_p.P257_splice|PXK_uc010hnk.1_Splice_Site_p.P168_splice	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	394	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TACAGATGCCGTAAGTCAATC	0.458												
GPR15	2838	broad.mit.edu	37	3	98251271	98251271	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:98251271T>A	uc011bgy.2	+	0	394	c.394T>A	c.(394-396)Tac>Aac	p.Y132N		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	132						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TGTTGACCGCTACCTGGCCAT	0.537												
COL6A6	131873	broad.mit.edu	37	3	130287203	130287203	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:130287203G>A	uc010htl.3	+	4	2187	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	719	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGGGCGCCCGGCCCAACATC	0.502												
HLTF	6596	broad.mit.edu	37	3	148802611	148802611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:148802611G>C	uc003ewq.1	-	1	304	c.86C>G	c.(85-87)tCa>tGa	p.S29*	HLTF_uc003ewr.1_Nonsense_Mutation_p.S29*|HLTF_uc003ews.1_Nonsense_Mutation_p.S29*|HLTF_uc010hve.1_Nonsense_Mutation_p.S29*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	29					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGTTGGATATGAGAGGCGTGG	0.358												
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:178952072A>G	uc003fjk.3	+	20	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
RNF168	165918	broad.mit.edu	37	3	196199643	196199643	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:196199643C>T	uc003fwq.3	-	6	1358	c.763_splice	c.e6-1	p.D255_splice	RNF168_uc010iah.3_Splice_Site_p.D88_splice	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	255					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGTCAATGTCCTGTAGAAAA	0.403												
RBM47	54502	broad.mit.edu	37	4	40440631	40440631	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr4:40440631C>T	uc003gvc.2	-	3	990	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	RBM47_uc003gvd.2_Missense_Mutation_p.V94M|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V56M|RBM47_uc003gvg.1_Missense_Mutation_p.V94M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	94	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGCGGCCCACGGCCTCGAAC	0.672												
TRIML2	205860	broad.mit.edu	37	4	189012897	189012897	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr4:189012897C>A	uc011cle.1	-	7	1241	c.1019G>T	c.(1018-1020)aGg>aTg	p.R340M	TRIML2_uc003izj.1_Missense_Mutation_p.R93M|TRIML2_uc003izk.1_Missense_Mutation_p.R73M|TRIML2_uc003izl.2_Missense_Mutation_p.R265M	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	265	B30.2/SPRY.						ligase activity	p.S340S(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CACTTGCCACCTGGTTGCCTT	0.602												
DNAH5	1767	broad.mit.edu	37	5	13727679	13727679	+	Silent	SNP	A	A	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:13727679A>G	uc003jfd.2	-	69	12012	c.11970T>C	c.(11968-11970)tcT>tcC	p.S3990S	DNAH5_uc003jfc.2_Silent_p.S158S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3990					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCAGTCAAGAGATTTATCAT	0.388									Kartagener syndrome			
DNAH5	1767	broad.mit.edu	37	5	13769686	13769686	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:13769686T>A	uc003jfd.2	-	56	9686	c.9644A>T	c.(9643-9645)gAg>gTg	p.E3215V	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3215	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCAACAGACTCTGAAGCTTC	0.433									Kartagener syndrome			
FST	10468	broad.mit.edu	37	5	52780105	52780105	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:52780105T>C	uc003jpd.3	+	3	1061	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	FST_uc003jpc.3_Missense_Mutation_p.Y235H	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	235	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TGGATTAGCCTATGAGGGAAA	0.438												
CAMK2A	815	broad.mit.edu	37	5	149607807	149607807	+	Silent	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:149607807G>A	uc003lru.2	-	15	1367	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	CAMK2A_uc003lrt.2_Silent_p.A395A	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	384					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTCCCCAGGGCCTCAGGTT	0.562												
TNIP1	10318	broad.mit.edu	37	5	150422129	150422131	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:150422129_150422131delAGG	uc003lti.3	-	10	1345_1347	c.1104_1106delCCT	c.(1102-1107)ctcctg>ctg	p.368_369LL>L	TNIP1_uc010jhq.2_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jhm.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jhr.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc011dco.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltg.3_In_Frame_Del_p.315_316LL>L|TNIP1_uc003ltk.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltj.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc021ygb.1_In_Frame_Del_p.368_369LL>L	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	368	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTTGGCCAGGAGGAGCTTGC	0.562												
GALNT10	55568	broad.mit.edu	37	5	153760181	153760181	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:153760181G>T	uc003lvh.3	+	5	1060	c.928G>T	c.(928-930)Gac>Tac	p.D310Y	GALNT10_uc003lvg.1_Missense_Mutation_p.D310Y|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.D151Y	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	310						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCCCAGCGACCCATTTGA	0.562												
GPX5	2880	broad.mit.edu	37	6	28497370	28497370	+	Missense_Mutation	SNP	C	C	T	rs145161873	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:28497370C>T	uc003nll.2	+	1	232	c.230C>T	c.(229-231)gCg>gTg	p.A77V	GPX5_uc003nlm.2_Missense_Mutation_p.A77V|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	77					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GGTCTGACAGCGCAATATCCT	0.378												
MDC1	9656	broad.mit.edu	37	6	30675721	30675721	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:30675721C>G	uc003nrg.4	-	7	3075	c.2635G>C	c.(2635-2637)Gaa>Caa	p.E879Q	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	879				Missing (in Ref. 2; CAH18685).	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)|kidney(1)|ovary(1)	4						CTTGCACTTTCCCCATTTTTG	0.423								Other conserved DNA damage response genes				
PKHD1	5314	broad.mit.edu	37	6	51799064	51799064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:51799064G>A	uc003pah.1	-	36	6241	c.5965C>T	c.(5965-5967)Ctt>Ttt	p.L1989F	PKHD1_uc010jzn.1_Missense_Mutation_p.L14F|PKHD1_uc003pai.3_Missense_Mutation_p.L1989F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1989	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCAGAAACAAGGATGGCGTGT	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SAMD3	154075	broad.mit.edu	37	6	130505305	130505305	+	Silent	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:130505305G>A	uc003qbw.3	-	6	925	c.597C>T	c.(595-597)gaC>gaT	p.D199D	SAMD3_uc003qbx.3_Silent_p.D199D|SAMD3_uc010kfg.1_Silent_p.D199D|SAMD3_uc003qby.3_Silent_p.D199D|SAMD3_uc003qbz.1_Silent_p.D158D	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	199										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATTAACCACGTCATTGTACT	0.473												
TCF21	6943	broad.mit.edu	37	6	134210609	134210609	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:134210609T>C	uc003qei.4	+	0	351	c.74T>C	c.(73-75)aTg>aCg	p.M25T	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.M25T	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	25					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGGTTGAAAATGGATTCGAAC	0.577												
TMEM184A	202915	broad.mit.edu	37	7	1588261	1588261	+	Silent	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:1588261G>A	uc003skv.4	-	6	1025	c.708C>T	c.(706-708)taC>taT	p.Y236Y	TMEM184A_uc003skt.4_Silent_p.Y215Y|TMEM184A_uc021zyr.1_Silent_p.Y41Y	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	236						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGAACAGGGCGTAGAGGGCGA	0.607												
CCDC129	223075	broad.mit.edu	37	7	31692423	31692423	+	Missense_Mutation	SNP	G	G	T	rs140998733	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:31692423G>T	uc011kae.2	+						CCDC129_uc011kad.1_Missense_Mutation_p.D1049Y|CCDC129_uc003tcj.1_Missense_Mutation_p.D1039Y|CCDC129_uc003tci.1_Missense_Mutation_p.D890Y|CCDC129_uc003tck.1_Missense_Mutation_p.D947Y	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.											cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGGAGAAAAGGATGCAGATGT	0.438												
TRIM24	8805	broad.mit.edu	37	7	138235836	138235836	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:138235836G>A	uc003vuc.3	+	7	1387	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	TRIM24_uc003vub.3_Missense_Mutation_p.R391H|TRIM24_uc022amn.1_Missense_Mutation_p.R349H	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	391					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.R391H(2)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CACCTCCTTCGTGCAAGGTGT	0.398												
TRPV6	55503	broad.mit.edu	37	7	142573221	142573221	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:142573221C>A	uc003wbx.2	-	8	1351	c.1122_splice	c.e8+1	p.Q374_splice	TRPV6_uc003wbw.1_Splice_Site_p.Q160_splice|TRPV6_uc010lou.1_Splice_Site_p.Q245_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	374					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGGTGTCACCTGAAGTAGCT	0.577												
NOS3	4846	broad.mit.edu	37	7	150703990	150703990	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:150703990C>T	uc003wif.3	+	15	2130	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	NOS3_uc011kuy.2_Missense_Mutation_p.R406C	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	612	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TTATAAGATCCGCTTCAACAG	0.607												
MTMR9	66036	broad.mit.edu	37	8	11163732	11163732	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:11163732A>C	uc003wtm.3	+	4	1023	c.625A>C	c.(625-627)Aca>Cca	p.T209P	MTMR9_uc010lrx.3_Missense_Mutation_p.T102P|MTMR9_uc011kxa.2_Missense_Mutation_p.T124P	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	209	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACTCACTGGTACAAACGGGAG	0.458												
MTMR9	66036	broad.mit.edu	37	8	11163737	11163737	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:11163737C>G	uc003wtm.3	+	4	1028	c.630C>G	c.(628-630)aaC>aaG	p.N210K	MTMR9_uc010lrx.3_Missense_Mutation_p.N103K|MTMR9_uc011kxa.2_Missense_Mutation_p.N125K	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	210	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding	p.N210N(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTGGTACAAACGGGAGGAGGT	0.468												
PCMTD1	115294	broad.mit.edu	37	8	52773608	52773608	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:52773608G>A	uc003xqx.4	-	1	445	c.104C>T	c.(103-105)gCg>gTg	p.A35V	PCMTD1_uc011ldn.2_Intron|PCMTD1_uc010lya.3_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.A35V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	35						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ACGATCAATCGCTCTGAAGGC	0.423												
RIMS2	9699	broad.mit.edu	37	8	105001613	105001613	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:105001613G>A	uc003yls.3	+	14	2583	c.2342G>A	c.(2341-2343)cGt>cAt	p.R781H	RIMS2_uc003ylp.3_Missense_Mutation_p.R1003H|RIMS2_uc003ylw.2_Missense_Mutation_p.R795H|RIMS2_uc003ylq.3_Missense_Mutation_p.R795H|RIMS2_uc003ylr.3_Missense_Mutation_p.R842H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1065					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACAGACATCGTGTCATGGAT	0.388										HNSCC(12;0.0054)		
BAG1	573	broad.mit.edu	37	9	33258950	33258950	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:33258950C>G	uc003zsj.3	-	3	832	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	BAG1_uc003zsi.3_Missense_Mutation_p.E111Q	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	249	BAG.|Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TTATTCAACTCTTCCAGCTGG	0.398												
BAG1	573	broad.mit.edu	37	9	33258984	33258984	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:33258984C>G	uc003zsj.3	-	3	798	c.711G>C	c.(709-711)gaG>gaC	p.E237D	BAG1_uc003zsi.3_Missense_Mutation_p.E99D	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	237	Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CCACAGACTTCTCCAAATGTT	0.403												
BAG1	573	broad.mit.edu	37	9	33259020	33259020	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:33259020C>A	uc003zsj.3	-	3	762	c.675G>T	c.(673-675)caG>caT	p.Q225H	BAG1_uc003zsi.3_Missense_Mutation_p.Q87H	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	225	Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CAACCTCTTCCTGTGGACTGT	0.423												
WNK2	65268	broad.mit.edu	37	9	96080326	96080326	+	Silent	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:96080326C>T	uc011lud.1	+	28	6645	c.6645C>T	c.(6643-6645)cgC>cgT	p.R2215R	WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	0					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.T2215fs*31(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGGTCCACGCGCCGTCTCCA	0.582												
PPP3R2	5535	broad.mit.edu	37	9	104356906	104356906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:104356906C>T	uc004bbr.3	-	0	378	c.307G>A	c.(307-309)Gac>Aac	p.D103N	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	100	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TTATCCATGTCGTAAATGCTG	0.532												
SOHLH1	402381	broad.mit.edu	37	9	138588634	138588634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:138588634G>A	uc010nbe.3	-	4	546	c.485C>T	c.(484-486)gCg>gTg	p.A162V	SOHLH1_uc004cgl.3_Missense_Mutation_p.A162V	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	162					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TTCCAGAAACGCCTTCACATC	0.637												
MAMDC4	158056	broad.mit.edu	37	9	139752001	139752001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:139752001G>A	uc004cjs.3	+	17	2339	c.2289G>A	c.(2287-2289)tgG>tgA	p.W763*	MAMDC4_uc011mej.2_Nonsense_Mutation_p.W100*	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	842	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATGCTGCCTGGGGCCCCCCAA	0.657