Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CSPG4	1464	broad.mit.edu	37	15	75982533	75982533	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:75982533G>A	ENST00000308508.5	-	3	965	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	291	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						GGTGAGCATTGATGTGGACAC	0.617000													12	34					0	0	0.411799	0	0
FNDC1	84624	broad.mit.edu	37	6	159653679	159653679	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:159653679C>T	ENST00000297267.9	+	11	2335	c.2135C>T	c.(2134-2136)gCc>gTc	p.A712V	FNDC1_ENST00000340366.6_Missense_Mutation_p.A649V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	712	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GATTCCAGTGCCTCAGCCCCA	0.657000													8	12					0	0	0.278610	0	0
GJD4	219770	broad.mit.edu	37	10	35896723	35896723	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:35896723C>G	ENST00000321660.1	+	2	440	c.282C>G	c.(280-282)gtC>gtG	p.V94V		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	94					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTCAGCGTCTATGTCCTGC	0.716000													22	20					0	0	0.639603	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	56					0	0	0.184627	0	0
C1orf227	149643	broad.mit.edu	37	1	213009314	213009314	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:213009314C>G	ENST00000332912.3	-	2	285	c.178G>C	c.(178-180)Gat>Cat	p.D60H		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	60										kidney(1)|large_intestine(1)|lung(1)	3						GTTGTGGTATCAGTAAAGGAC	0.483000													30	91					0	0	0.769981	0	0
OR2K2	26248	broad.mit.edu	37	9	114090514	114090514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:114090514G>C	ENST00000374428.1	-	1	286	c.287C>G	c.(286-288)tCt>tGt	p.S96C	OR2K2_ENST00000302681.1_Missense_Mutation_p.S67C			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67C(1)|p.S96C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCCATGAAAGAGAGATTTCC	0.418000													25	44					0	0	0.693898	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666715	116666715	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:116666715C>A	ENST00000369500.3	+	4	483	c.218C>A	c.(217-219)aCa>aAa	p.T73K	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	73										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TTCCTCGTCACAGTCCCAATA	0.577000													24	65					2.44723e-14	2.64214e-14	0.681144	1	0
PLD1	5337	broad.mit.edu	37	3	171323140	171323140	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:171323140G>C	ENST00000356327.5	-	25	2905	c.2835C>G	c.(2833-2835)ttC>ttG	p.F945L	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.F983L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	983					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACACCTCCTTGAAGAATTTGT	0.443000													33	95					0	0	0.779181	0	0
HAO2	51179	broad.mit.edu	37	1	119927521	119927521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:119927521C>T	ENST00000361035.4	+	5	728	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	HAO2_ENST00000325945.3_Nonsense_Mutation_p.Q136*	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	136	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCCAGACCTGCAGCTGAACAA	0.478000													23	59					0	0	0.654019	0	0
PCDH15	65217	broad.mit.edu	37	10	55912906	55912906	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:55912906C>A	ENST00000373965.2	-	15	2153	c.1759G>T	c.(1759-1761)Gca>Tca	p.A587S	PCDH15_ENST00000373955.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A580S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A191S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A558S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A558S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A580S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A580S|PCDH15_ENST00000320301.6_Missense_Mutation_p.A580S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A587S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A543S|PCDH15_ENST00000395446.1_Missense_Mutation_p.A580S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A585S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	580	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGTGAGTGCGTAAGTCCGC	0.488000										HNSCC(58;0.16)			12	31					0.000978159	0.00100705	0.387290	1	0
BMPER	168667	broad.mit.edu	37	7	34118611	34118611	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:34118611C>G	ENST00000297161.2	+	13	1595	c.1221C>G	c.(1219-1221)aaC>aaG	p.N407K	BMPER_ENST00000426693.1_Missense_Mutation_p.N407K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	407	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.N407N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGTGAAGAACGACGCCCGCC	0.607000													49	88					0	0	0.870114	0	0
SEL1L	6400	broad.mit.edu	37	14	81952776	81952776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:81952776C>T	ENST00000336735.4	-	17	1771	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	552	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCAACGGCCTCGTTCACATAC	0.413000													34	106					0	0	0.804634	0	0
NACA	4666	broad.mit.edu	37	12	57113755	57113755	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:57113755C>A	ENST00000454682.1	-	3	1840	c.1559G>T	c.(1558-1560)aGt>aTt	p.S520I	NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S520I	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAATACTGAACTGGGGAGATT	0.507000			T	BCL6	NHL								22	22					3.10358e-05	3.22244e-05	0.624587	1	0
ZNF555	148254	broad.mit.edu	37	19	2853240	2853240	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:2853240G>C	ENST00000334241.4	+	4	1315	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	ZNF555_ENST00000591539.1_Missense_Mutation_p.E392Q|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TCATGGTGGAGAGAAACCCTA	0.493000													11	23					0	0	0.387290	0	0
CDH26	60437	broad.mit.edu	37	20	58547156	58547156	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:58547156G>T	ENST00000348616.4	+	4	671	c.371G>T	c.(370-372)cGa>cTa	p.R124L	CDH26_ENST00000244047.5_Missense_Mutation_p.R124L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTGTCGATCGAGAAATGACA	0.383000													15	49					3.52763e-06	3.70212e-06	0.520397	1	0
STX7	8417	broad.mit.edu	37	6	132785161	132785161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:132785161G>A	ENST00000367941.2	-	9	777	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	STX7_ENST00000367937.4_Nonsense_Mutation_p.Q222*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	222	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GACAGCTGCTGATTTGCTTGC	0.378000													30	101					0	0	0.796494	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743390	102743390	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:102743390G>C	ENST00000210633.3	+	14	2112	c.2034G>C	c.(2032-2034)gtG>gtC	p.V678V	MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Silent_p.V673V|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	673					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CACCTGATGTGAGACTGCTCT	0.637000													3	21					0	0	0.248553	0	0
BICC1	80114	broad.mit.edu	37	10	60272997	60272997	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:60272997G>A	ENST00000373886.3	+	1	98	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	32					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GCCCGGCTCCGAGGACGACTT	0.697000													13	18					0	0	0.500413	0	0
NOL8	55035	broad.mit.edu	37	9	95062221	95062221	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:95062221C>G	ENST00000545558.1	-	14	3745	c.3253G>C	c.(3253-3255)Gaa>Caa	p.E1085Q	NOL8_ENST00000358855.4_Missense_Mutation_p.E1017Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E1085Q|NOL8_ENST00000535387.1_Missense_Mutation_p.E1047Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E1017Q			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1085					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTCCTCTTCTGAACTGCTG	0.388000													57	185					0	0	0.870114	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225674	26225674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:26225674G>A	ENST00000360408.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGAGGCCTGCGAGGCCTACTT	0.592000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	42					0	0	0.557998	0	0
HFM1	164045	broad.mit.edu	37	1	91813030	91813030	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:91813030A>G	ENST00000370425.3	-	19	2308	c.2210T>C	c.(2209-2211)tTt>tCt	p.F737S	HFM1_ENST00000370424.3_Missense_Mutation_p.F416S|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	737							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)		TCCAGATGCAAAACCTGCATG	0.303000													8	36					0	0	0.307466	0	0
DLG2	1740	broad.mit.edu	37	11	83984284	83984284	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:83984284A>C	ENST00000418306.2	-	1	39	c.15T>G	c.(13-15)agT>agG	p.S5R	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.S5R|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000543673.1_Intron	NM_001142700.1	NP_001136172.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCCGAGAAACACTTGGCCGTT	0.388000													5	3					0	0	0.184627	0	0
OR4A16	81327	broad.mit.edu	37	11	55111514	55111514	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55111514T>A	ENST00000314721.2	+	1	888	c.838T>A	c.(838-840)Ttg>Atg	p.L280M		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACACTCATGTTGAATCCTTT	0.318000													13	54					0	0	0.435327	0	0
TPTE	7179	broad.mit.edu	37	21	10951399	10951399	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:10951399C>T	ENST00000298232.7	-	9	626	c.259G>A	c.(259-261)Gat>Aat	p.D87N	TPTE_ENST00000342420.5_Missense_Mutation_p.D67N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D105N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	105					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGTGACATCCAGTAAGACC	0.328000													18	113					0	0	0.575678	0	0
VPS41	27072	broad.mit.edu	37	7	38812139	38812139	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:38812139C>G	ENST00000310301.4	-	13	1165	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E346Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	371					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTCTTCTTTTCAAGGAGCCAG	0.363000													9	40					0	0	0.335167	0	0
ABRACL	58527	broad.mit.edu	37	6	139363855	139363855	+	Splice_Site	SNP	G	G	C	rs9495322		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:139363855G>C	ENST00000367660.3	+	3	261		c.e3-1			NM_021243.2	NP_067066.1	Q9P1F3	CF115_HUMAN	ABRA C-terminal like									p.?(1)									TCTCAAACTAGATGCTGATGG	0.358000													37	117					0	0	0.812448	0	0
NHS	4810	broad.mit.edu	37	X	17745088	17745088	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17745088G>C	ENST00000380060.3	+	6	3137	c.2799G>C	c.(2797-2799)ttG>ttC	p.L933F	NHS_ENST00000398097.3_Missense_Mutation_p.L777F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	933						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAAATGACTTGAAAACAAATG	0.423000													82	19					0	0	0.870114	0	0
PRR14L	253143	broad.mit.edu	37	22	32100665	32100665	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:32100665T>C	ENST00000327423.6	-	5	5993	c.5804A>G	c.(5803-5805)tAt>tGt	p.Y1935C	PRR14L_ENST00000434485.1_Missense_Mutation_p.Y1935C|PRR14L_ENST00000397493.2_Missense_Mutation_p.Y1935C	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1935										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCTGGTGTTATATGTAGCTTC	0.493000													9	43					0	0	0.361761	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864770	160864770	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:160864770C>T	ENST00000392145.1	+	9	1536	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SLC22A3_ENST00000275300.2_Silent_p.I502I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	502						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTCTGATCATCTTTGGTAAGA	0.393000													32	21					0	0	0.769981	0	0
MFSD2B	388931	broad.mit.edu	37	2	24247130	24247130	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:24247130G>T	ENST00000338315.4	+	13	1479	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	MFSD2B_ENST00000406420.3_Silent_p.L493L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	493					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCAGCCGGCTGAGCCTTCGGA	0.647000													7	1					0.000157383	0.000163064	0.278610	1	0
PGR	5241	broad.mit.edu	37	11	100933223	100933223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:100933223C>T	ENST00000325455.5	-	4	3620	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	PGR_ENST00000534013.1_Missense_Mutation_p.E129K|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	723	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGTTGCCTCTCGCCTAGTTGA	0.358000													26	56					0	0	0.667858	0	0
CASC1	55259	broad.mit.edu	37	12	25274696	25274696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:25274696C>T	ENST00000354189.5	-	11	1439	c.1404G>A	c.(1402-1404)atG>atA	p.M468I	CASC1_ENST00000545133.1_Missense_Mutation_p.M345I|CASC1_ENST00000395990.2_Missense_Mutation_p.M364I|CASC1_ENST00000395987.3_Missense_Mutation_p.M410I|CASC1_ENST00000537577.1_Missense_Mutation_p.M292I|CASC1_ENST00000320267.9_Missense_Mutation_p.M404I|CASC1_ENST00000557684.1_5'UTR	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	404										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTCCACAATCATCCATCCCT	0.353000													22	46					0	0	0.592651	0	0
GARNL3	84253	broad.mit.edu	37	9	130119609	130119609	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:130119609G>C	ENST00000373387.4	+	21	2399	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	GARNL3_ENST00000314904.5_Missense_Mutation_p.E683Q|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.E661Q	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	683	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGTGGTGAATGAGAGCACAGG	0.507000													23	27					0	0	0.639603	0	0
IKZF1	10320	broad.mit.edu	37	7	50450284	50450284	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:50450284G>A	ENST00000331340.3	+	5	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000440768.2_Silent_p.Q156Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612000			"""D,T"""	BCL6	"""ALL, DLBCL"""								5	25					0	0	0.184627	0	0
MYO7B	4648	broad.mit.edu	37	2	128354096	128354096	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:128354096C>T	ENST00000389524.4	+	19	2357	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	MYO7B_ENST00000409816.2_Silent_p.L768L|MYO7B_ENST00000428314.1_Silent_p.L768L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	768	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGCGGCGCTCAGCATCCAGA	0.627000													3	12					0	0	0.115264	0	0
DNAH7	56171	broad.mit.edu	37	2	196673414	196673414	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:196673414C>T	ENST00000312428.6	-	53	10175	c.10075G>A	c.(10075-10077)Gat>Aat	p.D3359N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3359					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAAACTATCATATACTTTC	0.323000													21	94					0	0	0.592651	0	0
PBX3	5090	broad.mit.edu	37	9	128678148	128678148	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:128678148G>A	ENST00000373487.4	+	3	538	c.458G>A	c.(457-459)aGa>aAa	p.R153K	PBX3_ENST00000373489.5_Missense_Mutation_p.R153K|PBX3_ENST00000447726.2_Missense_Mutation_p.R78K|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Missense_Mutation_p.R153K			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	153					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TCAGATTACAGAGCCAAATTG	0.507000													31	99					0	0	0.717897	0	0
RNF10	9921	broad.mit.edu	37	12	120995255	120995255	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:120995255G>C	ENST00000325954.4	+	5	1277	c.816G>C	c.(814-816)aaG>aaC	p.K272N	RNF10_ENST00000413266.2_Missense_Mutation_p.K272N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	272					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTGCATAAGAAGGATCTCA	0.443000													34	81					0	0	0.779181	0	0
ADH4	127	broad.mit.edu	37	4	100062796	100062796	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:100062796A>G	ENST00000508393.1	-	4	380	c.215T>C	c.(214-216)gTt>gCt	p.V72A	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V72A|ADH4_ENST00000265512.7_Missense_Mutation_p.V53A|ADH4_ENST00000423445.1_Missense_Mutation_p.V72A|ADH4_ENST00000504581.1_5'UTR			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	53					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AGAATCGATAACAGTGGCATC	0.443000													18	32					0	0	0.539581	0	0
DIDO1	11083	broad.mit.edu	37	20	61511034	61511034	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:61511034C>G	ENST00000266070.4	-	16	6599	c.6274G>C	c.(6274-6276)Gac>Cac	p.D2092H	DIDO1_ENST00000395343.1_Missense_Mutation_p.D2092H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2092					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCCCCACGTCAAACCGCTCT	0.672000													42	270					0	0	0.840704	0	0
SYCP2	10388	broad.mit.edu	37	20	58441392	58441392	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:58441392C>G	ENST00000357552.3	-	41	4501	c.4276G>C	c.(4276-4278)Gaa>Caa	p.E1426Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1426Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1426					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.E1426K(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GAATCTTTTTCAAAATTCTCC	0.234000													14	60					0	0	0.520397	0	0
CEP128	145508	broad.mit.edu	37	14	81209426	81209426	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:81209426C>T	ENST00000555265.1	-	19	3174	c.2799G>A	c.(2797-2799)gaG>gaA	p.E933E	CEP128_ENST00000281129.3_Silent_p.E933E			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	933						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CACCTCTCTTCTCACGATGTA	0.378000													18	86					0	0	0.592651	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617356	111617356	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:111617356G>A	ENST00000374667.3	-	1	1883	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	285						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.D285E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGAGTTTGCCGTCCGGGAGCT	0.642000													78	30					0	0	0.870114	0	0
ATF6B	1388	broad.mit.edu	37	6	32087660	32087660	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:32087660C>T	ENST00000375201.4	-	9	943	c.898G>A	c.(898-900)Gag>Aag	p.E300K	ATF6B_ENST00000375203.3_Missense_Mutation_p.E303K			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	303					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CTCTTCCTCTCAGGCCGTGGT	0.592000													13	33					0	0	0.435327	0	0
XKR7	343702	broad.mit.edu	37	20	30584930	30584930	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:30584930G>A	ENST00000217299.3	+	3	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	470						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACGCCATCACGAGTCCCCCCA	0.682000													14	25					0	0	0.479597	0	0
RAB31	11031	broad.mit.edu	37	18	9708423	9708423	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:9708423C>G	ENST00000578921.1	+	1	262	c.21C>G	c.(19-21)ctC>ctG	p.L7L		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	6					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						TACGGGAGCTCAAAGTGTGCC	0.746000													4	18					0	0	0.248553	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453133	25453133	+	RNA	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:25453133T>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GCACTGAAGCTCAGGCCCTTC	0.622000													4	43					0	0	0.150653	0	0
PTPRT	11122	broad.mit.edu	37	20	40980903	40980903	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:40980903G>A	ENST00000373198.3	-	10	1818	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	PTPRT_ENST00000356100.2_Missense_Mutation_p.S528L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S528L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S528L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	528	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTCCAGCGAGCCGACAGC	0.532000													10	48					0	0	0.435327	0	0
SCN3A	6328	broad.mit.edu	37	2	165984368	165984368	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:165984368C>G	ENST00000360093.3	-	18	3657	c.3166G>C	c.(3166-3168)Gaa>Caa	p.E1056Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.E1056Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1007Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1056						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTGCTTATTTCAATTCCAGTA	0.373000													16	58					0	0	0.520397	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579633	35579633	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:35579633G>C	ENST00000373330.1	+	11	2376	c.2202G>C	c.(2200-2202)aaG>aaC	p.K734N	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.K734N			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	734						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGAATTCAAGAAAGAAGAAC	0.323000													12	47					0	0	0.387290	0	0
ASMTL	8623	broad.mit.edu	37	X	1546872	1546872	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:1546872C>G	ENST00000534940.1	-	7	703	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.E202Q|ASMTL_ENST00000416733.2_Missense_Mutation_p.E142Q|ASMTL_ENST00000381317.3_Missense_Mutation_p.E218Q	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	218	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCAGGTCCTCCGGACGGGGC	0.647000													16	40					0	0	0.539581	0	0
RAD51C	5889	broad.mit.edu	37	17	56770070	56770070	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:56770070G>A	ENST00000337432.4	+	1	137	c.66G>A	c.(64-66)gcG>gcA	p.A22A	RAD51C_ENST00000583539.1_Silent_p.A22A|RAD51C_ENST00000487921.1_Intron|RAD51C_ENST00000421782.2_Silent_p.A22A	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	22					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCTCCAGCGGTGCGGGTGA	0.587000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				37	16					0	0	0.804634	0	0
PDCD11	22984	broad.mit.edu	37	10	105174042	105174042	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:105174042T>C	ENST00000369797.3	+	11	1420	c.1326T>C	c.(1324-1326)gcT>gcC	p.A442A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	442					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTATTGAAGCTCAGTACCTTA	0.433000													16	28					0	0	0.500413	0	0
NAF1	92345	broad.mit.edu	37	4	164069513	164069513	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:164069513G>C	ENST00000274054.2	-	3	807	c.614C>G	c.(613-615)tCa>tGa	p.S205*	NAF1_ENST00000422287.2_Nonsense_Mutation_p.S205*	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	205					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AATAATACTTGAAACCATCCC	0.284000													9	99					0	0	0.335167	0	0
FAM184A	79632	broad.mit.edu	37	6	119345734	119345734	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:119345734C>G	ENST00000338891.7	-	2	847	c.404G>C	c.(403-405)aGa>aCa	p.R135T	FAM184A_ENST00000352896.5_Missense_Mutation_p.R15T|FAM184A_ENST00000368475.4_Missense_Mutation_p.R15T|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.R15T|FAM184A_ENST00000521531.1_Missense_Mutation_p.R135T	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	135										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTCCTCAACTCTGTGCTTATA	0.378000													25	42					0	0	0.681144	0	0
UNC13C	440279	broad.mit.edu	37	15	54305292	54305292	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:54305292G>T	ENST00000545554.1	+	1	192	c.192G>T	c.(190-192)aaG>aaT	p.K64N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K64N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K64N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	64					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCACTGTAAAGAAGATTGCAA	0.423000													9	47					0.00448238	0.00457615	0.307466	1	0
AUTS2	26053	broad.mit.edu	37	7	70252204	70252204	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:70252204C>G	ENST00000342771.4	+	18	2639	c.2318C>G	c.(2317-2319)tCa>tGa	p.S773*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.S749*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	773										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCACCCAACTCAATGTTCGGC	0.473000													7	21					0	0	0.248553	0	0
TSKS	60385	broad.mit.edu	37	19	50243129	50243129	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:50243129G>A	ENST00000246801.3	-	11	1765	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	TSKS_ENST00000358830.3_Silent_p.L361L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	561							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGGTTGCTGAGATGATCGT	0.587000													31	75					0	0	0.750413	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926553	130926553	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:130926553G>A	ENST00000261655.4	-	8	1456	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	RIMBP2_ENST00000535703.1_Silent_p.I339I|RIMBP2_ENST00000536002.1_Silent_p.I339I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	431	Fibronectin type-III 2.					cell junction|synapse		p.I431I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCCTTGACGATGTCGAACT	0.567000													11	51					0	0	0.411799	0	0
TTC17	55761	broad.mit.edu	37	11	43411297	43411297	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:43411297C>G	ENST00000039989.4	+	3	359	c.345C>G	c.(343-345)atC>atG	p.I115M	TTC17_ENST00000299240.6_Missense_Mutation_p.I115M	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	115							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGACTGCATCAAAGCCAAGG	0.398000													27	134					0	0	0.706142	0	0
ACTN3	89	broad.mit.edu	37	11	66328070	66328070	+	RNA	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:66328070C>G	ENST00000513398.1	+	0	1801				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACGATCAGTTCAAGGCAACAC	0.607000													19	37					0	0	0.624587	0	0
AKT1	207	broad.mit.edu	37	14	105241317	105241317	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:105241317G>A	ENST00000554581.1	-	6	2071	c.591C>T	c.(589-591)acC>acT	p.T197T	AKT1_ENST00000554848.1_Silent_p.T197T|AKT1_ENST00000544168.1_Silent_p.T135T|AKT1_ENST00000555528.1_Silent_p.T197T|AKT1_ENST00000407796.2_Silent_p.T197T|AKT1_ENST00000402615.2_Silent_p.T197T|AKT1_ENST00000349310.3_Silent_p.T197T			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	197	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGCGGTTCTCGGTGAGTGTGT	0.682000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								14	56					0	0	0.435327	0	0
ATRX	546	broad.mit.edu	37	X	76776376	76776376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:76776376G>A	ENST00000373344.5	-	34	7304	c.7090C>T	c.(7090-7092)Ctc>Ttc	p.L2364F	ATRX_ENST00000395603.3_Missense_Mutation_p.L2326F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2364					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCCTCTGAGAGATTCATGTTC	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						21	12					0	0	0.681144	0	0
C7orf43	55262	broad.mit.edu	37	7	99753354	99753354	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:99753354C>T	ENST00000316937.3	-	9	1520	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R	C7orf43_ENST00000457641.1_Silent_p.R176R|C7orf43_ENST00000394035.2_Silent_p.R21R|C7orf43_ENST00000419841.1_Silent_p.R213R	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	445										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCTGCCCTTCCGGGAAAAGC	0.657000													30	120					0	0	0.729181	0	0
RNASEH1	246243	broad.mit.edu	37	2	3599789	3599789	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:3599789C>T	ENST00000315212.3	-	3	709	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	118					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CGCTCGGCTTCATGTGCTTTG	0.517000													15	38					0	0	0.479597	0	0
MURC	347273	broad.mit.edu	37	9	103340680	103340680	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:103340680C>T	ENST00000307584.5	+	1	320	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	85					cell differentiation|muscle organ development|transcription, DNA-dependent			p.I85M(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAGGGCATATCATTAACAAAT	0.388000													25	67					0	0	0.681144	0	0
GRSF1	2926	broad.mit.edu	37	4	71701944	71701944	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:71701944C>A	ENST00000254799.6	-	2	562	c.445G>T	c.(445-447)Gtc>Ttc	p.V149F	GRSF1_ENST00000545193.1_Missense_Mutation_p.V31F|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	149	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ATGAGAAAGACATCATCCACT	0.408000													3	45					0.115264	0.116699	0.115264	1	0
SCRN3	79634	broad.mit.edu	37	2	175264800	175264800	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:175264800G>A	ENST00000272732.6	+	3	392	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	SCRN3_ENST00000409673.3_Missense_Mutation_p.E97K	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	104					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGTTTGTGATGAAGAAGCACT	0.408000													38	126					0	0	0.847076	0	0
TMEM2	23670	broad.mit.edu	37	9	74347373	74347373	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:74347373C>G	ENST00000377044.4	-	7	1996	c.1457G>C	c.(1456-1458)gGa>gCa	p.G486A	TMEM2_ENST00000377066.5_Missense_Mutation_p.G423A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	486						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGTAAGAATTCCAACCTCAGC	0.428000													21	54					0	0	0.639603	0	0
ANO1	55107	broad.mit.edu	37	11	70028776	70028776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:70028776G>A	ENST00000355303.5	+	24	2877	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	ANO1_ENST00000398543.2_Missense_Mutation_p.E712K|ANO1_ENST00000538023.1_Missense_Mutation_p.E858K|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Missense_Mutation_p.E567K|ANO1_ENST00000530676.1_Missense_Mutation_p.E712K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	858					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCTGGGCTACGAGGTGCAGAT	0.587000													7	183					0	0	0.307466	0	0
OBSCN	84033	broad.mit.edu	37	1	228509435	228509435	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:228509435G>A	ENST00000570156.2	+	66	17838	c.17764G>A	c.(17764-17766)Gat>Aat	p.D5922N	OBSCN_ENST00000366709.4_Missense_Mutation_p.D2084N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2599N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4965N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D4965N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4965	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACCGTGCTGATGCTGGCTG	0.602000													22	76					0	0	0.608945	0	0
DACT3	147906	broad.mit.edu	37	19	47151925	47151925	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:47151925G>A	ENST00000391916.2	-	4	1777	c.1704C>T	c.(1702-1704)gaC>gaT	p.D568D	DACT3_ENST00000300875.4_Silent_p.D343D	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	568										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CACCGCTGCCGTCTGAGTCGC	0.736000													17	32					0	0	0.575678	0	0
SIVA1	10572	broad.mit.edu	37	14	105225821	105225821	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:105225821G>A	ENST00000329967.6	+	4	629	c.527G>A	c.(526-528)tGa>tAa	p.*176*	SIVA1_ENST00000347067.5_Silent_p.*111*	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	0					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TTCGAGACCTGAGGCTGGCTC	0.627000													4	23					0	0	0.217242	0	0
MICAL1	64780	broad.mit.edu	37	6	109771220	109771220	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:109771220C>T	ENST00000368952.4	-	9	1607	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	MICAL1_ENST00000358577.3_Silent_p.V334V|MICAL1_ENST00000358807.3_Silent_p.V420V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	420					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCCACCGCTTCACCATCCAGG	0.612000													25	251					0	0	0.706142	0	0
OR52K1	390036	broad.mit.edu	37	11	4510323	4510323	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:4510323C>G	ENST00000307632.3	+	1	215	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTACCTCTTTCTGGCCATGTT	0.488000													34	22					0	0	0.804634	0	0
CDC25B	994	broad.mit.edu	37	20	3782998	3782998	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:3782998G>A	ENST00000245960.5	+	11	1866	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CDC25B_ENST00000340833.4_Missense_Mutation_p.R349Q|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R326Q|CDC25B_ENST00000439880.2_Missense_Mutation_p.R376Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R299Q	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	390					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTGACCACCGAGAGCTGATT	0.567000													13	22					0	0	0.435327	0	0
TRIM51	84767	broad.mit.edu	37	11	55658863	55658863	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55658863G>C	ENST00000449290.2	+	7	1206	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H	TRIM51_ENST00000244891.3_Missense_Mutation_p.D229H	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	372	B30.2/SPRY.					intracellular	zinc ion binding										TGACAAGATAGATGGAGAGGA	0.443000													17	63					0	0	0.717897	0	0
TPTE	7179	broad.mit.edu	37	21	10951400	10951400	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:10951400C>T	ENST00000298232.7	-	9	625	c.258G>A	c.(256-258)ctG>ctA	p.L86L	TPTE_ENST00000342420.5_Silent_p.L66L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L104L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	104					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGTGACATCCAGTAAGACCA	0.328000													18	113					0	0	0.575678	0	0
ACOT13	55856	broad.mit.edu	37	6	24698242	24698242	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:24698242T>C	ENST00000537591.1	+	3	731	c.144T>C	c.(142-144)gcT>gcC	p.A48A	ACOT13_ENST00000230048.4_Silent_p.A71A|ACOT13_ENST00000476436.1_3'UTR	NM_001160094.1	NP_001153566.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	71					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						CAACAATGGCTCTGCTATGCA	0.438000													15	41					0	0	0.500413	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945204	119945204	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:119945204C>T	ENST00000297350.4	-	2	744	c.366G>A	c.(364-366)agG>agA	p.R122R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	122					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGGCAGCTCCTATGTTTCA	0.493000													11	31					0	0	0.411799	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401219	47401219	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:47401219T>G	ENST00000310638.4	-	5	642	c.611A>C	c.(610-612)cAt>cCt	p.H204P	CYP4A11_ENST00000371905.1_Missense_Mutation_p.H204P|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H204P|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.H100P	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	204					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTGCCCTGATGGCTGAAGGC	0.572000													17	59					0	0	0.539581	0	0
SYBU	55638	broad.mit.edu	37	8	110655123	110655123	+	Silent	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:110655123A>G	ENST00000399066.3	-	1	781	c.54T>C	c.(52-54)tcT>tcC	p.S18S	SYBU_ENST00000424158.2_Silent_p.S26S|SYBU_ENST00000433638.1_Silent_p.S21S|SYBU_ENST00000408908.2_Silent_p.S21S|SYBU_ENST00000528647.1_Silent_p.S20S|SYBU_ENST00000419099.1_Silent_p.S20S|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000533171.1_Silent_p.S21S|SYBU_ENST00000422135.1_Silent_p.S21S|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000446070.2_Silent_p.S20S|SYBU_ENST00000276646.9_Silent_p.S21S|SYBU_ENST00000533895.1_Silent_p.S20S|SYBU_ENST00000440310.1_Silent_p.S21S|SYBU_ENST00000528331.1_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	21	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TTCGGCTTCGAGAAATCTCCT	0.478000													21	45					0	0	0.654019	0	0
MUC16	94025	broad.mit.edu	37	19	9084208	9084208	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:9084208A>G	ENST00000397910.4	-	1	7810	c.7607T>C	c.(7606-7608)aTt>aCt	p.I2536T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2536	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGGTTCAATAGTTGATGC	0.507000													12	29					0	0	0.500413	0	0
KL	9365	broad.mit.edu	37	13	33627907	33627907	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:33627907C>T	ENST00000380099.3	+	2	831	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	KL_ENST00000426690.2_5'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	275	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCATAGGCTCATGCCAAAGT	0.413000													19	49					0	0	0.557998	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953676	72953676	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:72953676C>T	ENST00000421285.3	+	8	636	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	212										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CGCTGCTGAACGCACACGTGA	0.582000													9	43					0	0	0.479597	0	0
RYR2	6262	broad.mit.edu	37	1	237947379	237947379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:237947379G>A	ENST00000366574.2	+	90	12684	c.12367G>A	c.(12367-12369)Gag>Aag	p.E4123K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4107K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4129K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4123					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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			GGAATTAGCAGAGAGCGTCCT	0.512000													19	24					0	0	0.557998	0	0
AADAT	51166	broad.mit.edu	37	4	170989840	170989840	+	Splice_Site	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:170989840T>G	ENST00000337664.4	-	8	1080		c.e8-2		AADAT_ENST00000353187.2_Splice_Site|AADAT_ENST00000515480.1_Splice_Site|AADAT_ENST00000509167.1_Splice_Site	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase						2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTCTCAACCTACGTGGAAAG	0.363000													6	54					0	0	0.217242	0	0
KCNH1	3756	broad.mit.edu	37	1	210857055	210857055	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:210857055C>G	ENST00000367007.4	-	11	2626	c.2457G>C	c.(2455-2457)aaG>aaC	p.K819N	KCNH1_ENST00000271751.4_Missense_Mutation_p.K846N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	846					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)		AGTCCTCACTCTTCCCGCAAG	0.612000													18	62					0	0	0.520397	0	0
G2E3	55632	broad.mit.edu	37	14	31081542	31081542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:31081542C>G	ENST00000206595.6	+	13	1784	c.1630C>G	c.(1630-1632)Ctt>Gtt	p.L544V	G2E3_ENST00000438909.2_Missense_Mutation_p.L498V|G2E3_ENST00000553504.1_Missense_Mutation_p.L574V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	544	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAAAGACATACTTGGCTACCA	0.299000													20	46					0	0	0.624587	0	0
CEP170	9859	broad.mit.edu	37	1	243354558	243354558	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:243354558C>G	ENST00000366542.1	-	8	921	c.870G>C	c.(868-870)ggG>ggC	p.G290G	CEP170_ENST00000366543.1_Silent_p.G290G|CEP170_ENST00000366544.1_Silent_p.G290G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	290						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TAGTTACCTTCCCTGGGGTAC	0.438000													4	16					0	0	0.248553	0	0
RP1	6101	broad.mit.edu	37	8	55537868	55537868	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:55537868C>G	ENST00000220676.1	+	4	1574	c.1426C>G	c.(1426-1428)Caa>Gaa	p.Q476E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	476					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACTGAGGTTCAAGAGAAAAT	0.388000													18	45					0	0	0.575678	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642730	1642730	+	Silent	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1642730A>G	ENST00000399682.1	-	1	638	c.594T>C	c.(592-594)ggT>ggC	p.G198G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	258	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATGACCCACAACCTGAGGAGG	0.597000													6	108					0	0	0.847076	0	0
BSG	682	broad.mit.edu	37	19	571571	571571	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:571571C>T	ENST00000346916.4	+	1	275	c.24C>T	c.(22-24)ccC>ccT	p.P8P	AC009005.2_ENST00000588290.1_RNA|BSG_ENST00000545507.2_5'UTR|AC009005.2_ENST00000589457.1_RNA|AC009005.2_ENST00000588908.1_RNA|AC009005.2_ENST00000590292.1_RNA	NM_198591.2	NP_940993.1	P35613	BASI_HUMAN	basigin	184					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		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)		acgcgtctccccaagaaaggt	0.597000													9	26					0	0	0.335167	0	0
PSG7	5676	broad.mit.edu	37	19	43433864	43433864	+	RNA	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:43433864G>T	ENST00000406070.2	-	0	535				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAGGGTTTGGGAGTCTCCACT	0.512000													61	13					1.43675e-24	1.57914e-24	0.870114	1	0
BRIP1	83990	broad.mit.edu	37	17	59761063	59761063	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:59761063G>A	ENST00000259008.2	-	20	3611	c.3344C>T	c.(3343-3345)tCc>tTc	p.S1115F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1115					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATTTGAAGTGGACTGTTTATC	0.353000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					44	17					0	0	0.847076	0	0
SETD3	84193	broad.mit.edu	37	14	99932040	99932040	+	Splice_Site	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:99932040T>A	ENST00000331768.5	-	2	262	c.103_splice	c.e2+1	p.K35_splice	SETD3_ENST00000436070.2_Splice_Site_p.K35_splice|SETD3_ENST00000329331.3_Splice_Site_p.K35_splice|SETD3_ENST00000453938.1_5'UTR	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	35					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GAGGACTTACTCTGCAGCAGC	0.502000													9	30					0	0	0.361761	0	0
RICTOR	253260	broad.mit.edu	37	5	38991111	38991111	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:38991111C>G	ENST00000357387.3	-	7	553	c.523G>C	c.(523-525)Gat>Cat	p.D175H	RICTOR_ENST00000296782.5_Missense_Mutation_p.D175H	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	175					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			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGAAGTCCATCATTTCCAACT	0.353000													4	99					0	0	0.150653	0	0
BPIFC	254240	broad.mit.edu	37	22	32831730	32831730	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:32831730G>A	ENST00000397452.1	-	9	995	c.885C>T	c.(883-885)ttC>ttT	p.F295F	BPIFC_ENST00000300399.3_Silent_p.F295F|BPIFC_ENST00000432451.2_Silent_p.F109F|BPIFC_ENST00000534972.1_Silent_p.F19F			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	295						extracellular region	lipopolysaccharide binding|phospholipid binding										CCCCAGCTGTGAAATGAGCAA	0.458000													17	19					0	0	0.500413	0	0
RGS12	6002	broad.mit.edu	37	4	3318834	3318834	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:3318834G>T	ENST00000336727.3	+	2	1841	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	RGS12_ENST00000543385.1_Missense_Mutation_p.G313W|RGS12_ENST00000344733.5_Missense_Mutation_p.G313W|RGS12_ENST00000382788.3_Missense_Mutation_p.G313W	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	313	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGATTTTTCGGGTTGGTTAC	0.642000													3	77					0.115264	0.116699	0.115264	1	0
LAMA4	3910	broad.mit.edu	37	6	112443245	112443245	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:112443245C>G	ENST00000230538.7	-	32	4844	c.4447G>C	c.(4447-4449)Gaa>Caa	p.E1483Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.E1476Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1476Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1476Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1483	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTAAGTGTTCAAACTCTTGG	0.443000													17	54					0	0	0.520397	0	0
GLUD2	2747	broad.mit.edu	37	X	120183061	120183061	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:120183061C>G	ENST00000328078.1	+	1	1600	c.1523C>G	c.(1522-1524)tCt>tGt	p.S508C		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	508					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATTGTGCACTCTGCCTTGGCA	0.463000													31	24					0	0	0.750413	0	0
TAAR6	319100	broad.mit.edu	37	6	132892295	132892295	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:132892295T>C	ENST00000275198.1	+	1	835	c.835T>C	c.(835-837)Tta>Cta	p.L279L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	279						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CATTGATTCATTAATTGATGC	0.408000													22	61					0	0	0.608945	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094723	143094723	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:143094723G>C	ENST00000367603.2	-	5	1895	c.1153C>G	c.(1153-1155)Ctc>Gtc	p.L385V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.L385V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.L385V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGAAGGTTGAGCGATGGCTCA	0.438000													43	103					0	0	0.853193	0	0
ZNF835	90485	broad.mit.edu	37	19	57175000	57175000	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57175000G>T	ENST00000537055.2	-	2	1798	c.1567C>A	c.(1567-1569)Caa>Aaa	p.Q523K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CACCCCTGTTGACAGGTTTCT	0.582000													18	63					9.16793e-09	9.72598e-09	0.520397	1	0
MYH11	4629	broad.mit.edu	37	16	15841954	15841954	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:15841954G>C	ENST00000338282.6	-	17	2236	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	MYH11_ENST00000576790.1_Missense_Mutation_p.I710M|MYH11_ENST00000452625.2_Missense_Mutation_p.I717M|MYH11_ENST00000396324.3_Missense_Mutation_p.I717M|MYH11_ENST00000300036.5_Missense_Mutation_p.I710M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	710	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCCGGCAGATGCGAATGC	0.637000			T	CBFB	AML								15	64					0	0	0.520397	0	0
EPHX4	253152	broad.mit.edu	37	1	92495681	92495681	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:92495681C>T	ENST00000370383.4	+	1	143	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	15						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGCTCACGCTCCGGTCCCTGC	0.701000													7	18					0	0	0.248553	0	0
TRPM1	4308	broad.mit.edu	37	15	31339443	31339443	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:31339443C>T	ENST00000542188.1	-	14	1999	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P	TRPM1_ENST00000397795.2_Silent_p.P523P|TRPM1_ENST00000256552.6_Silent_p.P545P	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	523					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGTAATCAGGCGGAAGGTTGC	0.547000													6	25					0	0	0.248553	0	0
PLAU	5328	broad.mit.edu	37	10	75672797	75672797	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:75672797G>A	ENST00000446342.1	+	4	740	c.258G>A	c.(256-258)acG>acA	p.T86T	PLAU_ENST00000372762.4_Silent_p.T67T|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.T103T|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	103	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TTCAGCAAACGTACCATGCCC	0.572000													10	47					0	0	0.335167	0	0
POGLUT1	56983	broad.mit.edu	37	3	119198980	119198980	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:119198980G>T	ENST00000295588.4	+	5	623	c.539G>T	c.(538-540)gGt>gTt	p.G180V		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	180						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TATCCTACAGGTCTTGGACGG	0.418000													30	15					1.30897e-18	1.42903e-18	0.740014	1	0
CPAMD8	27151	broad.mit.edu	37	19	17111256	17111256	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:17111256C>G	ENST00000443236.1	-	10	1007	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E279Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	279						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGTCCCACCTCGTGGCTGTAG	0.517000													6	19					0	0	0.248553	0	0
UBR4	23352	broad.mit.edu	37	1	19473443	19473443	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:19473443C>T	ENST00000375267.2	-	52	7684	c.7681G>A	c.(7681-7683)Gag>Aag	p.E2561K	UBR4_ENST00000375254.3_Missense_Mutation_p.E2561K|UBR4_ENST00000375217.2_Missense_Mutation_p.E2561K|UBR4_ENST00000375226.2_Missense_Mutation_p.E2572K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2561					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		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)		TCCTTGCCCTCTTTGCTAGAT	0.527000													57	175					0	0	0.870114	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820840	35820840	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:35820840C>G	ENST00000399989.1	+	2	806	c.527C>G	c.(526-528)aCc>aGc	p.T176S	MAGEB16_ENST00000399987.1_Missense_Mutation_p.T176S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.T176S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.T208S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T176S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	176	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGGACCCCACCACCCATTGC	0.507000													8	17					0	0	0.411799	0	0
DNAH8	1769	broad.mit.edu	37	6	38830055	38830055	+	Splice_Site	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:38830055G>A	ENST00000359357.3	+	42	5734		c.e42-1		DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACATTTGCAGATGCTATATC	0.463000													18	34					0	0	0.520397	0	0
LSAMP	4045	broad.mit.edu	37	3	115560764	115560764	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:115560764C>T	ENST00000490035.1	-	6	1346	c.847G>A	c.(847-849)Gag>Aag	p.E283K	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E280K	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	283	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCGTAGTGCTCCTCAGTGACG	0.507000													10	34					0	0	0.335167	0	0
CYFIP2	26999	broad.mit.edu	37	5	156751060	156751060	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:156751060C>T	ENST00000347377.6	+	16	2234	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	CYFIP2_ENST00000522463.1_Silent_p.F405F|CYFIP2_ENST00000521420.1_Silent_p.F575F|CYFIP2_ENST00000318218.6_Silent_p.F626F|CYFIP2_ENST00000377576.3_Silent_p.F601F|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.F526F|CYFIP2_ENST00000435847.2_Silent_p.F300F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	626					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTCTTCTTCACACATCTGC	0.547000													18	7					0	0	0.575678	0	0
SEC61A1	29927	broad.mit.edu	37	3	127774526	127774526	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:127774526T>A	ENST00000243253.3	+	4	336	c.152T>A	c.(151-153)tTt>tAt	p.F51Y	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.F57Y	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	51					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						ATTCCCCTGTTTGGGATCATG	0.473000													31	109					0	0	0.769981	0	0
GABBR1	2550	broad.mit.edu	37	6	29588923	29588923	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:29588923C>G	ENST00000377034.4	-	11	1613	c.1278G>C	c.(1276-1278)gaG>gaC	p.E426D	GABBR1_ENST00000377016.4_Missense_Mutation_p.E364D|GABBR1_ENST00000377012.4_Missense_Mutation_p.E309D|GABBR1_ENST00000355973.3_Missense_Mutation_p.E309D|GABBR1_ENST00000376977.3_Missense_Mutation_p.E426D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	426					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GCATGACAATCTCAGTTGTGA	0.532000													11	28					0	0	0.361761	0	0
BIRC6	57448	broad.mit.edu	37	2	32688441	32688441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:32688441C>T	ENST00000421745.2	+	24	5067	c.4933C>T	c.(4933-4935)Cag>Tag	p.Q1645*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1645					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTGAAGCTTCAGCAACAGGT	0.423000													5	18					0	0	0.217242	0	0
BNC2	54796	broad.mit.edu	37	9	16436013	16436013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:16436013C>G	ENST00000380672.4	-	6	2236	c.2179G>C	c.(2179-2181)Gag>Cag	p.E727Q	BNC2_ENST00000380666.2_Missense_Mutation_p.E727Q|BNC2_ENST00000380667.2_Missense_Mutation_p.E660Q|BNC2_ENST00000545497.1_Missense_Mutation_p.E632Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCCGAAGACTCAGACTCGTTC	0.512000													155	44					0	0	0.870114	0	0
SEMA4D	10507	broad.mit.edu	37	9	92017921	92017921	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:92017921C>T	ENST00000450295.1	-	4	893	c.117G>A	c.(115-117)ctG>ctA	p.L39L	SEMA4D_ENST00000438547.2_Silent_p.L39L|SEMA4D_ENST00000356444.2_Silent_p.L39L|SEMA4D_ENST00000343780.4_Silent_p.L39L|SEMA4D_ENST00000455551.2_Silent_p.L39L|SEMA4D_ENST00000420987.1_Silent_p.L39L|SEMA4D_ENST00000339861.4_Silent_p.L39L|SEMA4D_ENST00000422704.2_Silent_p.L39L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	39	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GAAACTGCACCAGGTGCACCT	0.547000													10	48					0	0	0.435327	0	0
CDH2	1000	broad.mit.edu	37	18	25568547	25568547	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:25568547C>T	ENST00000269141.3	-	11	2105	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	CDH2_ENST00000399380.3_Missense_Mutation_p.R530Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	561	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGTGATTCTCGGTCCAAAAC	0.333000													12	20					0	0	0.387290	0	0
GPATCH3	63906	broad.mit.edu	37	1	27223839	27223839	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:27223839C>G	ENST00000361720.5	-	2	852	c.829G>C	c.(829-831)Gag>Cag	p.E277Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	277	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTCTTCCTCAGGCTCTCCA	0.542000													48	118					0	0	0.870114	0	0
CACNA1C	775	broad.mit.edu	37	12	2693722	2693722	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:2693722G>A	ENST00000399655.1	+	16	2543	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	CACNA1C_ENST00000399649.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E760K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E785K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E760K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E760K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	760					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCTGATGCTGAGAGCCTCAC	0.512000													13	45					0	0	0.411799	0	0
TBC1D27	96597	broad.mit.edu	37	17	16830195	16830195	+	RNA	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:16830195G>A	ENST00000261651.2	-	0	2850																											GCTGTCTCATGATCTTTGGGA	0.577000													4	16					0	0	0.150653	0	0
SSRP1	6749	broad.mit.edu	37	11	57097867	57097867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:57097867C>T	ENST00000278412.2	-	11	1599	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	445	Asp/Glu-rich (acidic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGTCCTCATCAGAGTCAGCA	0.537000													4	31					0	0	0.184627	0	0
ZNF251	90987	broad.mit.edu	37	8	145948062	145948062	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:145948062C>T	ENST00000292562.7	-	5	1258	c.983G>A	c.(982-984)aGa>aAa	p.R328K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GCTAAAGCCTCTTCCACATTC	0.488000													17	11					0	0	0.520397	0	0
COBL	23242	broad.mit.edu	37	7	51261114	51261114	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:51261114C>T	ENST00000395542.2	-	3	602	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	COBL_ENST00000395540.2_Missense_Mutation_p.E140K|COBL_ENST00000441453.1_Missense_Mutation_p.E140K|COBL_ENST00000265136.7_Missense_Mutation_p.E140K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	140										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACCTTCTCTTCAGGAACTTTT	0.453000													14	77					0	0	0.520397	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89103861	89103861	+	RNA	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:89103861C>T	ENST00000393525.3	+	0	4335																											taggtcatttctaaatGTAAT	0.284000													7	5					0	0	0.248553	0	0
DRP2	1821	broad.mit.edu	37	X	100496666	100496666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:100496666C>T	ENST00000395209.3	+	7	1096	c.569C>T	c.(568-570)cCg>cTg	p.P190L	DRP2_ENST00000538510.1_Missense_Mutation_p.P190L|DRP2_ENST00000541709.1_Missense_Mutation_p.P112L|DRP2_ENST00000402866.1_Missense_Mutation_p.P190L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	190					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GATACCTCCCCGAAACAGCGG	0.547000													10	39					0	0	0.411799	0	0
COPB2	9276	broad.mit.edu	37	3	139093334	139093334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:139093334C>T	ENST00000333188.5	-	7	929	c.748G>A	c.(748-750)Gat>Aat	p.D250N	COPB2_ENST00000507777.1_Missense_Mutation_p.D221N	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	250					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AACTTACCATCTTCTGAACCT	0.403000													30	70					0	0	0.740014	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938128	116938128	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:116938128G>C	ENST00000229554.5	+	1	479	c.342G>C	c.(340-342)acG>acC	p.T114T	RSPH4A_ENST00000368580.4_Silent_p.T114T|RSPH4A_ENST00000368581.4_Silent_p.T114T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	114					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACAGGACCACGAGTGTGATTC	0.552000									Kartagener syndrome				18	51					0	0	0.557998	0	0
LOC220729	220729	broad.mit.edu	37	3	197346747	197346747	+	RNA	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:197346747C>T	ENST00000418868.1	-	0	697					NR_003266.2																						CAGCTGGTATCATATCTCAGA	0.423000													6	23					0	0	0.248553	0	0
FCER1A	2205	broad.mit.edu	37	1	159275900	159275900	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:159275900C>T	ENST00000368115.1	+	5	553	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	FCER1A_ENST00000368114.1_Missense_Mutation_p.L119F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	152	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGGTGAAGCTCTCAAGTACTG	0.498000													26	57					0	0	0.717897	0	0
CALCR	799	broad.mit.edu	37	7	93098029	93098029	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:93098029G>A	ENST00000359558.2	-	8	872	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CALCR_ENST00000421592.1_Silent_p.F173F|CALCR_ENST00000360249.4_Silent_p.F173F|CALCR_ENST00000426151.1_Silent_p.F173F|CALCR_ENST00000394441.1_Silent_p.F173F	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	173					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTACTTACCTGAAAAACACGA	0.418000													6	38					0	0	0.278610	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733388	106733388	+	RNA	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:106733388G>A	ENST00000390610.2	-	0	166																											GACCTTCACTGAGGCCCCAGG	0.577000													40	141					0	0	0.840704	0	0
ZNF471	57573	broad.mit.edu	37	19	57035959	57035959	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57035959G>A	ENST00000308031.5	+	5	656	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAACATAGAAGAGAGTATTTA	0.284000													3	28					0	0	0.150653	0	0
SRGAP1	57522	broad.mit.edu	37	12	64383777	64383777	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:64383777G>C	ENST00000355086.3	+	3	875	c.351G>C	c.(349-351)ttG>ttC	p.L117F	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L117F|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L77F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	117					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGCAACCTTGAGTGACATCT	0.423000													28	63					0	0	0.717897	0	0
MYH11	4629	broad.mit.edu	37	16	15833949	15833949	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:15833949C>T	ENST00000338282.6	-	23	3062	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	MYH11_ENST00000576790.1_Missense_Mutation_p.E986K|MYH11_ENST00000452625.2_Missense_Mutation_p.E993K|MYH11_ENST00000396324.3_Missense_Mutation_p.E993K|MYH11_ENST00000300036.5_Missense_Mutation_p.E986K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	986					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCAGGATCTCATCCTCCAGT	0.517000			T	CBFB	AML								28	78					0	0	0.706142	0	0
DENND5B	160518	broad.mit.edu	37	12	31555438	31555438	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:31555438G>T	ENST00000389082.5	-	15	3207	c.2943C>A	c.(2941-2943)acC>acA	p.T981T	DENND5B_ENST00000536562.1_Silent_p.T1016T|DENND5B_ENST00000306833.6_Silent_p.T1016T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	981	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTACCTCAAAGGTCATTTCGA	0.398000													39	46					2.47872e-24	2.71824e-24	0.853193	1	0
SCML1	6322	broad.mit.edu	37	X	17768106	17768106	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17768106C>G	ENST00000380043.3	+	5	643	c.315C>G	c.(313-315)tcC>tcG	p.S105S	SCML1_ENST00000398080.1_Silent_p.S11S|SCML1_ENST00000380045.3_Silent_p.S11S|SCML1_ENST00000380041.3_Silent_p.S132S	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	132					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGACATTCTCCTACCCTGAAA	0.418000													32	56					0	0	0.729181	0	0
OC90	729330	broad.mit.edu	37	8	133041345	133041345	+	Silent	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:133041345C>A	ENST00000262283.5	-	17	1848	c.1749G>T	c.(1747-1749)gtG>gtT	p.V583V	OC90_ENST00000443356.2_Silent_p.V387V|OC90_ENST00000603859.1_Silent_p.V371V|OC90_ENST00000254627.3_Silent_p.V371V			Q02509	OC90_HUMAN	otoconin 90	387					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCACACACACCACCGGTGACC	0.512000													38	28					4.14481e-20	4.53513e-20	0.819951	1	0
RHOJ	57381	broad.mit.edu	37	14	63749901	63749901	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:63749901C>T	ENST00000316754.3	+	4	927	c.465C>T	c.(463-465)ctC>ctT	p.L155L	RHOJ_ENST00000555125.1_Silent_p.L155L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	155					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAAACCTCTCACTTACGAGC	0.398000													17	36					0	0	0.539581	0	0
SECISBP2	79048	broad.mit.edu	37	9	91963111	91963111	+	Missense_Mutation	SNP	G	G	A	rs147681365		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:91963111G>A	ENST00000375807.3	+	12	1791	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	SECISBP2_ENST00000339901.4_Missense_Mutation_p.E501K|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E506K	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	574					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCAGTTTCCCGAGCAGGCAGA	0.463000													19	71					0	0	0.608945	0	0
TOE1	114034	broad.mit.edu	37	1	45809091	45809091	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:45809091G>T	ENST00000372090.5	+	8	1833	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	TOE1_ENST00000539779.1_Missense_Mutation_p.R337I|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	417						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					ATAGCTGATAGAGCTACCTCA	0.517000													40	35					5.71845e-15	6.20134e-15	0.812448	1	0
NBEAL2	23218	broad.mit.edu	37	3	47030591	47030591	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:47030591G>C	ENST00000450053.3	+	4	465	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E96Q|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	96							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGAGAACATAGAGGCAGGCCG	0.597000													8	10					0	0	0.278610	0	0
COL4A3	1285	broad.mit.edu	37	2	228159768	228159768	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:228159768G>A	ENST00000396578.3	+	40	3669	c.3507G>A	c.(3505-3507)aaG>aaA	p.K1169K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1169	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCGGAGAAAAGGGAGAAACGG	0.408000													54	25					0	0	0.870114	0	0
OR4D9	390199	broad.mit.edu	37	11	59283060	59283060	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59283060G>C	ENST00000329328.3	+	1	675	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L225L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGATGATGCTGAGGTCTCACA	0.488000													32	167					0	0	0.769981	0	0
KMT2D	8085	broad.mit.edu	37	12	49436573	49436573	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:49436573G>T	ENST00000301067.7	-	26	5732	c.5733C>A	c.(5731-5733)acC>acA	p.T1911T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTAGGCCAGGGGTTCCACAAC	0.542000													24	58					1.66031e-10	1.77293e-10	0.667858	1	0
MYO16	23026	broad.mit.edu	37	13	109540724	109540724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:109540724G>C	ENST00000356711.2	+	14	1618	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	MYO16_ENST00000251041.5_Missense_Mutation_p.E498Q|MYO16_ENST00000357550.2_Missense_Mutation_p.E498Q|MYO16_ENST00000457511.2_Missense_Mutation_p.E10Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	498	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTTAGTGGAGAAAGGGGATC	0.438000													34	14					0	0	0.750413	0	0
MEX3D	399664	broad.mit.edu	37	19	1556757	1556757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:1556757C>T	ENST00000402693.4	-	2	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H	MEX3D_ENST00000388824.6_Missense_Mutation_p.R254H	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	254					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCCTTGCTGCGCGTGGCGCG	0.706000													16	41					0	0	0.539581	0	0
OR7A10	390892	broad.mit.edu	37	19	14952228	14952228	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:14952228C>G	ENST00000248058.1	-	1	461	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ACATGGAATTCAGAACACTCA	0.458000													4	64					0	0	0.150653	0	0
NUDT19	390916	broad.mit.edu	37	19	33200187	33200187	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:33200187G>A	ENST00000397061.3	+	2	811	c.811G>A	c.(811-813)Gcc>Acc	p.A271T		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	271						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TGCAAACTTTGCCTCTCTCTC	0.453000													52	175					0	0	0.870114	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38666925	38666925	+	RNA	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:38666925G>A	ENST00000494540.1	+	0	893					NR_003086.1																						GGACCTAGATGAAGACACTGC	0.338000													5	24					0	0	0.184627	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967475	41967475	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:41967475G>A	ENST00000298919.7	+	10	2502	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R707Q|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R965Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	965							ubiquitin-protein ligase activity|zinc ion binding	p.R707Q(2)|p.R965Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCATGATGCGAAGCAGGTTA	0.507000													12	32					0	0	0.387290	0	0
IFIH1	64135	broad.mit.edu	37	2	163144671	163144671	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163144671C>T	ENST00000263642.2	-	5	1464	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	357	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATAACTTTTCCAGGCTCAGAT	0.358000													22	85					0	0	0.639603	0	0
ARMC9	80210	broad.mit.edu	37	2	232143099	232143099	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:232143099G>A	ENST00000349938.4	+	16	1673	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	493							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CCATAGGGAAGAACATGTGTG	0.483000													27	82					0	0	0.769981	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820841	35820841	+	Silent	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:35820841C>A	ENST00000399989.1	+	2	807	c.528C>A	c.(526-528)acC>acA	p.T176T	MAGEB16_ENST00000399987.1_Silent_p.T176T|MAGEB16_ENST00000399988.1_Silent_p.T176T|MAGEB16_ENST00000399992.1_Silent_p.T208T|MAGEB16_ENST00000399985.1_Silent_p.T176T	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	176	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGACCCCACCACCCATTGCT	0.512000													8	17					0.00136819	0.00140564	0.411799	1	0
MTMR12	54545	broad.mit.edu	37	5	32230321	32230321	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:32230321C>G	ENST00000382142.3	-	16	1977	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H	MTMR12_ENST00000264934.5_Missense_Mutation_p.D493H|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.D549H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	603	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGAGCTCATCAGAAGAATTA	0.403000													26	155					0	0	0.667858	0	0
FBN2	2201	broad.mit.edu	37	5	127645021	127645021	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:127645021C>G	ENST00000508053.1	-	47	6245	c.5271G>C	c.(5269-5271)gtG>gtC	p.V1757V	FBN2_ENST00000262464.4_Silent_p.V1757V			P35556	FBN2_HUMAN	fibrillin 2	1757	TB 7.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTTTTTGTCACATTGAAAG	0.428000													4	48					0	0	0.150653	0	0
KDM3B	51780	broad.mit.edu	37	5	137735696	137735696	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:137735696G>A	ENST00000314358.5	+	11	3394	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	KDM3B_ENST00000542866.1_Missense_Mutation_p.R97H|KDM3B_ENST00000394866.1_Missense_Mutation_p.R721H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1065					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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGCCGGCCACGCAGTGGTAAG	0.478000													4	61					0	0	0.150653	0	0
RHPN2	85415	broad.mit.edu	37	19	33493179	33493179	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:33493179G>C	ENST00000254260.3	-	9	1114	c.1079C>G	c.(1078-1080)aCt>aGt	p.T360S	RHPN2_ENST00000400226.4_Missense_Mutation_p.T209S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	360	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GAGGATGGCAGTGAAGTAGTG	0.647000													20	37					0	0	0.608945	0	0
MS4A14	84689	broad.mit.edu	37	11	60183118	60183118	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:60183118G>C	ENST00000300187.6	+	5	954	c.677G>C	c.(676-678)aGa>aCa	p.R226T	MS4A14_ENST00000531783.1_Missense_Mutation_p.R259T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.R209T|MS4A14_ENST00000531787.1_Missense_Mutation_p.R114T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	226						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AATAAAGGTAGAGAATTTGTG	0.403000													22	87					0	0	0.667858	0	0
ZNF212	7988	broad.mit.edu	37	7	148947893	148947893	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:148947893C>G	ENST00000335870.2	+	3	664	c.536C>G	c.(535-537)tCt>tGt	p.S179C		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	179	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ACACTGGTCTCTCTGAGTGAG	0.498000													19	44					0	0	0.557998	0	0
MAPRE1	22919	broad.mit.edu	37	20	31413815	31413815	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:31413815C>G	ENST00000375571.5	+	2	221	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	28	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAATGAGTCTCTGCAGTTGAA	0.433000													43	73					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216040365	216040365	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:216040365C>G	ENST00000366943.2	-	44	9215	c.8829G>C	c.(8827-8829)gtG>gtC	p.V2943V	USH2A_ENST00000307340.3_Silent_p.V2943V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2943	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCCCACCTCACGTCGATGG	0.448000										HNSCC(13;0.011)			18	47					0	0	0.592651	0	0
SLC17A7	57030	broad.mit.edu	37	19	49935905	49935905	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49935905C>T	ENST00000221485.3	-	9	1192	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	SLC17A7_ENST00000543531.1_Missense_Mutation_p.G329S|SLC17A7_ENST00000600601.1_Missense_Mutation_p.G274S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	341					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GACACCAGGCCTACCTGCGGG	0.692000													18	13					0	0	0.592651	0	0
NRK	203447	broad.mit.edu	37	X	105179293	105179293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:105179293G>T	ENST00000428173.2	+	21	3937	c.3634G>T	c.(3634-3636)Gag>Tag	p.E1212*	NRK_ENST00000243300.9_Nonsense_Mutation_p.E1211*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1211	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTTCACTTCTGAGATCTGCTG	0.353000										HNSCC(51;0.14)			20	11					5.03518e-11	5.40037e-11	0.557998	1	0
IFIH1	64135	broad.mit.edu	37	2	163128753	163128753	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163128753C>G	ENST00000263642.2	-	13	2994	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	867	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCATACTCCTCTGGTTTCATA	0.378000													6	19					0	0	0.217242	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291928	15291928	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:15291928G>T	ENST00000263388.2	-	18	2913	c.2838C>A	c.(2836-2838)ttC>ttA	p.F946L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	946	EGF-like 24.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acaggcagctgaacgagttca	0.687000													4	14					0.00024832	0.000256738	0.150653	1	0
DDX60L	91351	broad.mit.edu	37	4	169317111	169317111	+	Splice_Site	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:169317111G>C	ENST00000511577.1	-	27	3903	c.3657_splice	c.e27+1	p.S1219_splice	DDX60L_ENST00000260184.7_Splice_Site_p.S1219_splice|DDX60L_ENST00000505890.1_Splice_Site_p.S1220_splice			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1219	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGACGTACTGAGTCTTTATT	0.343000													4	23					0	0	0.184627	0	0
PLXNB3	5365	broad.mit.edu	37	X	153035337	153035337	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:153035337C>G	ENST00000538966.1	+	8	1912	c.1641C>G	c.(1639-1641)caC>caG	p.H547Q	PLXNB3_ENST00000538776.1_Missense_Mutation_p.H177Q|PLXNB3_ENST00000538543.1_Missense_Mutation_p.H74Q|PLXNB3_ENST00000538282.1_Missense_Mutation_p.H134Q|PLXNB3_ENST00000361971.5_Missense_Mutation_p.H524Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	524					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAGCCACTGCCTGCACA	0.687000													4	7					0	0	0.248553	0	0
BAGE2	85319	broad.mit.edu	37	21	11049475	11049475	+	RNA	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:11049475C>G	ENST00000470054.1	-	0	633									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTTGCACTCAGGACATTGC	0.423000													4	139					0	0	0.217242	0	0
VPS45	11311	broad.mit.edu	37	1	150054908	150054908	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:150054908G>A	ENST00000369130.3	+	10	1591	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	VPS45_ENST00000535106.1_Missense_Mutation_p.E280K|VPS45_ENST00000369128.5_Missense_Mutation_p.E244K	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	349					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATCTGCTGGAGGTTTCAGA	0.453000													18	34					0	0	0.520397	0	0
METTL1	4234	broad.mit.edu	37	12	58163602	58163602	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:58163602G>A	ENST00000324871.7	-	3	1121	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	METTL1_ENST00000257848.7_Intron	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	138						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GCATTGCTACGGAGACAGGCG	0.607000													7	31					0	0	0.248553	0	0
AGPAT3	56894	broad.mit.edu	37	21	45387862	45387862	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:45387862G>A	ENST00000398063.2	+	3	706	c.214G>A	c.(214-216)Gag>Aag	p.E72K	AGPAT3_ENST00000327505.2_Missense_Mutation_p.E72K|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E72K|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E72K	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	72					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GTCCTGCACGGAGTGTACACT	0.612000													11	22					0	0	0.411799	0	0
CASC5	57082	broad.mit.edu	37	15	40914964	40914964	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:40914964G>A	ENST00000346991.5	+	11	2970	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q	CASC5_ENST00000399668.2_Silent_p.Q834Q|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	860	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGTGTACAGAAACCTAAAT	0.338000													32	44					0	0	0.750413	0	0
PREPL	9581	broad.mit.edu	37	2	44565513	44565513	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:44565513C>T	ENST00000541738.1	-	7	1251	c.865G>A	c.(865-867)Gat>Aat	p.D289N	PREPL_ENST00000378520.3_Missense_Mutation_p.D378N|PREPL_ENST00000409936.1_Missense_Mutation_p.D378N|PREPL_ENST00000409411.1_Missense_Mutation_p.D289N|PREPL_ENST00000410081.1_Missense_Mutation_p.D378N|PREPL_ENST00000409272.1_Missense_Mutation_p.D378N|PREPL_ENST00000409957.1_Missense_Mutation_p.D289N|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.D378N	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	378					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTGAATCATCAGCCAGACCA	0.328000													19	9					0	0	0.539581	0	0
AHNAK	79026	broad.mit.edu	37	11	62287084	62287084	+	Silent	SNP	C	C	T	rs149805243		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTAACTTCGGACCTGAAA	0.458000													24	118					0	0	0.639603	0	0
NUP214	8021	broad.mit.edu	37	9	134073419	134073419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:134073419C>T	ENST00000359428.5	+	29	4682	c.4538C>T	c.(4537-4539)tCa>tTa	p.S1513L	NUP214_ENST00000451030.1_Missense_Mutation_p.S1514L|NUP214_ENST00000483497.2_Missense_Mutation_p.S339L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1503L			P35658	NU214_HUMAN	nucleoporin 214kDa	1513	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTCTCAGCATCAGCAGCCTCA	0.552000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								15	102					0	0	0.479597	0	0
USP41	373856	broad.mit.edu	37	22	20724457	20724457	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:20724457G>A	ENST00000454608.2	-	7	432	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	USP41_ENST00000486536.2_5'UTR					ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CAGAGTTTGAGGTACAGTTGG	0.468000													19	81					0	0	0.608945	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180656	142180656	+	RNA	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:142180656G>A	ENST00000390368.2	-	0	268																											AGCACCAACTGAGTAATGAAT	0.527000													49	155					0	0	0.870114	0	0
PRR16	51334	broad.mit.edu	37	5	120022237	120022237	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:120022237C>A	ENST00000379551.2	+	3	1036	c.679C>A	c.(679-681)Ccc>Acc	p.P227T	PRR16_ENST00000505123.1_Missense_Mutation_p.P180T|PRR16_ENST00000446965.1_Missense_Mutation_p.P180T|PRR16_ENST00000407149.2_Missense_Mutation_p.P250T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	250	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCAAGGCCCTCCCCTCCCTCC	0.522000													19	16					2.4624e-09	2.61797e-09	0.575678	1	0
CILP	8483	broad.mit.edu	37	15	65489097	65489097	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:65489097C>T	ENST00000261883.4	-	9	3693	c.3527G>A	c.(3526-3528)aGa>aAa	p.R1176K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1176					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTGAGCAACTCTAGGAAATCT	0.557000													14	30					0	0	0.435327	0	0
LUZP4	51213	broad.mit.edu	37	X	114540829	114540829	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:114540829G>A	ENST00000371920.3	+	4	409	c.402G>A	c.(400-402)ggG>ggA	p.G134G	LUZP4_ENST00000451986.2_Silent_p.G52G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	134						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGTCAGAGGGGAACCAGCATC	0.433000													18	24					0	0	0.575678	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607532	31607532	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:31607532C>T	ENST00000170150.3	+	11	1251	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	352						extracellular region	lipid binding										ACTCGGCTTTCCAGTCCCTCT	0.637000													6	27					0	0	0.217242	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249442	123249442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:123249442G>A	ENST00000264501.4	+	66	11552	c.11179G>A	c.(11179-11181)Gaa>Aaa	p.E3727K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3727K			Q2LD37	K1109_HUMAN	KIAA1109	3727					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTACCAGTGAAGATTCCGA	0.423000													22	43					0	0	0.624587	0	0
SYNE1	23345	broad.mit.edu	37	6	152763259	152763259	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152763259G>T	ENST00000367255.5	-	31	4560	c.3959C>A	c.(3958-3960)aCa>aAa	p.T1320K	SYNE1_ENST00000448038.1_Missense_Mutation_p.T1327K|SYNE1_ENST00000367253.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000265368.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000413186.2_Missense_Mutation_p.T1320K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T1386K|SYNE1_ENST00000367248.3_Missense_Mutation_p.T1310K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T1327K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1320					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCATCCAGTGTGCTCTCCAG	0.637000										HNSCC(10;0.0054)			17	53					3.6726e-16	4.00051e-16	0.667858	1	0
MKL1	57591	broad.mit.edu	37	22	40816946	40816946	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:40816946G>T	ENST00000396617.3	-	10	1376	c.786C>A	c.(784-786)atC>atA	p.I262I	MKL1_ENST00000355630.3_Silent_p.I262I|MKL1_ENST00000402042.1_Silent_p.I212I|MKL1_ENST00000407029.1_Silent_p.I262I			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	262					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCAGGATCTTGGCGT	0.602000			T	RBM15	acute megakaryocytic leukemia								34	15					1.26612e-14	1.36999e-14	0.779181	1	0
SIM2	6493	broad.mit.edu	37	21	38072060	38072060	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:38072060C>G	ENST00000290399.6	+	1	627	c.14C>G	c.(13-15)tCc>tGc	p.S5C	AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Missense_Mutation_p.S5C	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	5					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AAGGAGAAGTCCAAGAATGCG	0.662000													3	15					0	0	0.150653	0	0
ETV1	2115	broad.mit.edu	37	7	13946217	13946217	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:13946217G>C	ENST00000343495.5	-	11	1632	c.894C>G	c.(892-894)atC>atG	p.I298M	ETV1_ENST00000399357.3_Missense_Mutation_p.I213M|ETV1_ENST00000420159.2_Missense_Mutation_p.I258M|ETV1_ENST00000405192.2_Missense_Mutation_p.I293M|ETV1_ENST00000403685.1_Missense_Mutation_p.I298M|ETV1_ENST00000430479.1_Missense_Mutation_p.I316M|ETV1_ENST00000242066.5_Missense_Mutation_p.I298M|ETV1_ENST00000403527.1_Missense_Mutation_p.I276M|ETV1_ENST00000405218.2_Missense_Mutation_p.I316M|ETV1_ENST00000405358.4_Missense_Mutation_p.I330M			P50549	ETV1_HUMAN	ets variant 1	316					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCTTGTTTGATGTCTCCTA	0.368000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								3	11					0	0	0.115264	0	0
IRGC	56269	broad.mit.edu	37	19	44223308	44223308	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:44223308G>A	ENST00000244314.5	+	2	797	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	200						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCACTGTGCCGAGCGGCTGCG	0.701000													14	54					0	0	0.575678	0	0
DPP4	1803	broad.mit.edu	37	2	162865118	162865118	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:162865118G>C	ENST00000360534.3	-	22	2501	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	647					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTCCACACTTGAACACGCCAC	0.468000													16	48					0	0	0.557998	0	0
SYK	6850	broad.mit.edu	37	9	93650072	93650072	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:93650072G>A	ENST00000375754.4	+	12	1771	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	SYK_ENST00000375747.1_Silent_p.P518P|SYK_ENST00000375751.4_Silent_p.P518P|SYK_ENST00000375746.1_Silent_p.P541P	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	541	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGTACGCTCCGGAATGCATCA	0.483000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								7	164					0	0	0.248553	0	0
WDR70	55100	broad.mit.edu	37	5	37725096	37725096	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:37725096A>G	ENST00000265107.4	+	16	1814	c.1658A>G	c.(1657-1659)aAg>aGg	p.K553R		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	553										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCTGGAGAAGGACAGACTG	0.502000													119	103					0	0	0.870114	0	0
SCN1A	6323	broad.mit.edu	37	2	166901607	166901607	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:166901607G>A	ENST00000423058.2	-	10	1625	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F536F|SCN1A_ENST00000303395.4_Silent_p.F536F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F536F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	536						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTCAATGGAGAAGCGAAAAC	0.428000													13	104					0	0	0.457914	0	0
OR5A2	219981	broad.mit.edu	37	11	59190242	59190242	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59190242A>G	ENST00000302040.4	-	1	207	c.185T>C	c.(184-186)tTc>tCc	p.F62S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGAGGAAGAAGTACATGGG	0.488000													29	52					0	0	0.706142	0	0
NRG1	3084	broad.mit.edu	37	8	32505429	32505429	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:32505429G>A	ENST00000520502.2	+	1	193	c.193G>A	c.(193-195)Gag>Aag	p.E65K	NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	276	Ig-like C2-type.				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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTAGAAGCTGAGCGCCTGAG	0.617000													10	21					0	0	0.335167	0	0
ABCB5	340273	broad.mit.edu	37	7	20762686	20762686	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:20762686G>T	ENST00000404938.2	+	21	3121	c.2469G>T	c.(2467-2469)atG>atT	p.M823I	ABCB5_ENST00000258738.6_Missense_Mutation_p.M378I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	378					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAACTAACATGGGACTTTCAG	0.378000													37	77					5.71845e-15	6.20134e-15	0.812448	1	0
KIAA0825	285600	broad.mit.edu	37	5	93859663	93859663	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:93859663C>G	ENST00000513200.3	-	3	344	c.272G>C	c.(271-273)gGa>gCa	p.G91A	KIAA0825_ENST00000427991.2_Missense_Mutation_p.G91A|KIAA0825_ENST00000329378.7_Missense_Mutation_p.G91A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.G91A	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	91										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TATCAAGTCTCCATGAGAAAT	0.328000													6	14					0	0	0.248553	0	0
STRN3	29966	broad.mit.edu	37	14	31405711	31405711	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:31405711T>C	ENST00000355683.5	-	6	1051	c.836A>G	c.(835-837)aAt>aGt	p.N279S	STRN3_ENST00000357479.5_Missense_Mutation_p.N279S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	279					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTTATGTTTATTCATCCGATG	0.328000													16	27					0	0	0.539581	0	0
KCNN3	3782	broad.mit.edu	37	1	154841649	154841649	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:154841649T>C	ENST00000271915.3	-	1	1107	c.792A>G	c.(790-792)caA>caG	p.Q264Q		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	269						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGCCAATGTTTTGGTTTTTCC	0.512000													71	21					0	0	0.870114	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764323	138764323	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:138764323C>G	ENST00000242351.5	-	4	1680	c.1364G>C	c.(1363-1365)aGa>aCa	p.R455T	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R455T|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R455T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	455					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGATATTTCTCTGTGACCGCT	0.468000													24	41					0	0	0.654019	0	0
PRKCG	5582	broad.mit.edu	37	19	54409999	54409999	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:54409999G>A	ENST00000263431.3	+	18	2226	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	PRKCG_ENST00000540413.1_Silent_p.T648T|PRKCG_ENST00000542049.1_Silent_p.T499T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	648	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	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;0.0521)		AGTTCTTCACGCGGGCGGCGC	0.647000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	90					0	0	0.769981	0	0
CDKL2	8999	broad.mit.edu	37	4	76551024	76551024	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:76551024C>T	ENST00000429927.2	-	2	852	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CDKL2_ENST00000307465.4_Missense_Mutation_p.R50Q	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	50	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTTGATTTCTCGCATTGCAAT	0.299000													13	35					0	0	0.435327	0	0
AGRN	375790	broad.mit.edu	37	1	981868	981868	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:981868C>T	ENST00000379370.2	+	18	3053	c.3003C>T	c.(3001-3003)ccC>ccT	p.P1001P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1001	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGCCCCCCCCGGCGCCCTCC	0.701000													4	26					0	0	0.184627	0	0
POU4F2	5458	broad.mit.edu	37	4	147561835	147561835	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:147561835C>T	ENST00000281321.3	+	2	1353	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	369					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATTCAGCCTCGGCCCTCCTC	0.577000													18	52					0	0	0.557998	0	0
SBF1	6305	broad.mit.edu	37	22	50904631	50904631	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:50904631G>A	ENST00000380817.2	-	8	1028	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SBF1_ENST00000390679.3_Missense_Mutation_p.T282M|SBF1_ENST00000348911.6_Missense_Mutation_p.T283M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	282	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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)		GATGAAGGGCGTGGGTGTGCT	0.652000													20	42					0	0	0.608945	0	0
IFIH1	64135	broad.mit.edu	37	2	163144765	163144765	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163144765G>A	ENST00000263642.2	-	5	1370	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	325	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGCAGATGATGATATTCTTCC	0.493000													27	66					0	0	0.717897	0	0
PLSCR4	57088	broad.mit.edu	37	3	145918834	145918834	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:145918834C>G	ENST00000354952.2	-	5	625	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	PLSCR4_ENST00000493382.1_Missense_Mutation_p.E129Q|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.E129Q	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	129					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCCAGAGGCTCAAAATGCTGA	0.318000													8	39					0	0	0.278610	0	0
ATP10B	23120	broad.mit.edu	37	5	159992488	159992488	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:159992488C>T	ENST00000327245.5	-	26	5204	c.4358G>A	c.(4357-4359)cGc>cAc	p.R1453H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1453					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGATCGGCGATGGCTGCT	0.532000													29	66					0	0	0.740014	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103307	39103307	+	Silent	SNP	G	G	A	rs56029962		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:39103307G>A	ENST00000591517.1	-	9	637	c.609C>T	c.(607-609)atC>atT	p.I203I	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.I203I|MAP4K1_ENST00000589130.1_Silent_p.I199I|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.I203I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	203	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGATGGCCGTGATGCCCAGGG	0.627000													26	70					0	0	0.693898	0	0
SYNE1	23345	broad.mit.edu	37	6	152720763	152720763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152720763T>A	ENST00000367255.5	-	48	7826	c.7225A>T	c.(7225-7227)Aaa>Taa	p.K2409*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K2416*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K2409*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K2446*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K2416*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2409					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAAGTGTTTTTCCAGAGAT	0.493000										HNSCC(10;0.0054)			138	142					0	0	0.870114	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262010	53262010	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:53262010G>C	ENST00000294353.6	+	7	1526	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	ZYG11B_ENST00000443756.2_Missense_Mutation_p.D461H|ZYG11B_ENST00000545132.1_Missense_Mutation_p.D461H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	461							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAACCATGAGGATCAAAACAT	0.433000													11	35					0	0	0.411799	0	0
SCYL1	57410	broad.mit.edu	37	11	65293810	65293810	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:65293810C>T	ENST00000524944.1	+	4	624	c.591C>T	c.(589-591)gtC>gtT	p.V197V	SCYL1_ENST00000270176.5_Silent_p.V197V|SCYL1_ENST00000279270.6_Silent_p.V197V|SCYL1_ENST00000527630.1_Silent_p.V197V|SCYL1_ENST00000525364.1_Silent_p.V197V|SCYL1_ENST00000420247.2_Silent_p.V197V|SCYL1_ENST00000527009.1_Silent_p.V54V|SCYL1_ENST00000533862.1_Silent_p.V197V			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	197	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCAGAGTGGTCAGAGAGAAGT	0.662000													5	33					0	0	0.217242	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579545	35579545	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:35579545G>C	ENST00000373330.1	+	11	2288	c.2114G>C	c.(2113-2115)gGa>gCa	p.G705A	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G705A			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	705						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAAATTGGAGTTGATATG	0.353000													8	43					0	0	0.278610	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								4	50					0	0	0.150653	0	0
HAUS6	54801	broad.mit.edu	37	9	19058235	19058235	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:19058235G>C	ENST00000380502.3	-	16	2997	c.2530C>G	c.(2530-2532)Ctt>Gtt	p.L844V	HAUS6_ENST00000380496.1_Missense_Mutation_p.L708V	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	844					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCTTGGAAAGAGATTTCTTC	0.433000													29	353					0	0	0.717897	0	0
CXorf40A	91966	broad.mit.edu	37	X	148628500	148628500	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:148628500G>C	ENST00000441248.1	+	4	2056	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CXorf40A_ENST00000423421.1_Missense_Mutation_p.E157Q|CXorf40A_ENST00000450602.2_Missense_Mutation_p.E157Q|CXorf40A_ENST00000422892.2_Intron|CXorf40A_ENST00000434353.2_Intron|CXorf40A_ENST00000393985.3_Missense_Mutation_p.E157Q|CXorf40A_ENST00000359293.5_Missense_Mutation_p.E157Q|CXorf40A_ENST00000514208.1_Intron|CXorf40A_ENST00000423540.2_Missense_Mutation_p.E157Q|CXorf40A_ENST00000428236.1_Missense_Mutation_p.E95Q			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	157							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATTGGGGCATGAAGTGTGACA	0.478000													4	11					0	0	0.361761	0	0
ZNF560	147741	broad.mit.edu	37	19	9578107	9578107	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:9578107G>C	ENST00000301480.4	-	10	1729	c.1516C>G	c.(1516-1518)Cat>Gat	p.H506D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTCTCAAATGAGCAAAAAGA	0.413000													13	93					0	0	0.435327	0	0
POTEC	388468	broad.mit.edu	37	18	14513720	14513720	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:14513720C>T	ENST00000358970.5	-	10	1473	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	492										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTCAGAATCTCATCTTGTGAT	0.313000													4	36					0	0	0.184627	0	0
TLK1	9874	broad.mit.edu	37	2	171854298	171854298	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:171854298T>C	ENST00000442919.2	-	19	2411	c.1796A>G	c.(1795-1797)gAg>gGg	p.E599G	TLK1_ENST00000434911.2_Missense_Mutation_p.E551G|TLK1_ENST00000431350.2_Missense_Mutation_p.E647G|TLK1_ENST00000521943.1_Missense_Mutation_p.E599G|TLK1_ENST00000360843.3_Missense_Mutation_p.E668G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	647	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTTGGTGGCTCTTTTCCAAC	0.373000													94	94					0	0	0.870114	0	0
MS4A3	932	broad.mit.edu	37	11	59829989	59829989	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59829989C>T	ENST00000278865.3	+	3	278	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	69						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGGTGTCTTTCTGGGTTCCTT	0.453000													25	102					0	0	0.681144	0	0
VARS	7407	broad.mit.edu	37	6	31750118	31750118	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:31750118G>C	ENST00000375663.3	-	17	2534	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	698					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCAGGATGCGGAGGTCACCCC	0.667000													6	15					0	0	0.217242	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	32					0	0	0.335167	0	0
MMRN1	22915	broad.mit.edu	37	4	90857798	90857798	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:90857798G>A	ENST00000394980.1	+	7	3286	c.2967G>A	c.(2965-2967)tcG>tcA	p.S989S	MMRN1_ENST00000508372.1_Silent_p.S731S|MMRN1_ENST00000264790.2_Silent_p.S989S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	989					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TAGATCGATCGTTGCCTGGTA	0.353000													36	16					0	0	0.796494	0	0
SYNE2	23224	broad.mit.edu	37	14	64564771	64564771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:64564771G>C	ENST00000357395.3	+	63	12512	c.1368G>C	c.(1366-1368)ttG>ttC	p.L456F	SYNE2_ENST00000555002.1_Missense_Mutation_p.L705F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4104F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L456F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4071F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4071F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4071					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAGCATTTGAAGCAAGAAC	0.473000													6	73					0	0	0.217242	0	0
KDM5B	10765	broad.mit.edu	37	1	202702867	202702867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:202702867G>A	ENST00000367265.3	-	23	4735	c.3571C>T	c.(3571-3573)Caa>Taa	p.Q1191*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1227*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1191					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGTTCACATTGAATCATAGGG	0.517000													21	47					0	0	0.592651	0	0
ISL2	64843	broad.mit.edu	37	15	76634064	76634064	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:76634064C>A	ENST00000290759.4	+	6	1128	c.968C>A	c.(967-969)tCc>tAc	p.S323Y	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCCCAGGTCTCCTTCTCCGAG	0.677000													13	66					1.3612e-06	1.4347e-06	0.479597	1	0
GSX2	170825	broad.mit.edu	37	4	54967925	54967925	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:54967925C>G	ENST00000326902.2	+	2	1065	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	251						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATCTGGTTTCAGAACCGCCG	0.567000													5	86					0	0	0.278610	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	42					0	0	0.184627	0	0
DMXL2	23312	broad.mit.edu	37	15	51778300	51778300	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:51778300G>C	ENST00000251076.5	-	23	5739	c.5452C>G	c.(5452-5454)Caa>Gaa	p.Q1818E	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q1818E|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1182E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1818						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTGGTGTTTGTTCCAGTAAT	0.383000													30	27					0	0	0.769981	0	0
NCK2	8440	broad.mit.edu	37	2	106498397	106498397	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:106498397C>T	ENST00000233154.4	+	4	1282	c.840C>T	c.(838-840)ttC>ttT	p.F280F	NCK2_ENST00000393349.2_Silent_p.F280F|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	280					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCGGGCGCTTCGCGGGCAGAG	0.672000													10	38					0	0	0.361761	0	0
XIRP2	129446	broad.mit.edu	37	2	168107923	168107923	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:168107923G>C	ENST00000409195.1	+	9	10110	c.10021G>C	c.(10021-10023)Gag>Cag	p.E3341Q	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3119Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3341Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3166					actin cytoskeleton organization	cell junction	actin binding	p.E3341Q(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGGAATTTGAGCATGGCCC	0.393000													19	67					0	0	0.539581	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643210	94643210	+	Missense_Mutation	SNP	G	G	A	rs141790636		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:94643210G>A	ENST00000260526.6	-	22	3045	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	955					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTGCTTGCGTTCTGATTCC	0.343000													19	56					0	0	0.624587	0	0
CRYZ	1429	broad.mit.edu	37	1	75188946	75188946	+	Silent	SNP	G	G	A	rs146208357	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:75188946G>A	ENST00000417775.1	-	4	624	c.120C>T	c.(118-120)atC>atT	p.I40I	CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000370871.3_Silent_p.I40I|CRYZ_ENST00000340866.5_Silent_p.I40I	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	40					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CATGGACCTTGATTAGAACCT	0.408000													27	67					0	0	0.740014	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451422	38451422	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:38451422C>G	ENST00000322350.5	+	19	2895	c.2549C>G	c.(2548-2550)tCa>tGa	p.S850*	EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000354891.3_Nonsense_Mutation_p.S858*|EGFLAM_ENST00000397202.2_Nonsense_Mutation_p.S216*|EGFLAM_ENST00000336740.6_Nonsense_Mutation_p.S616*	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	858	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCCAGGGTGTCAGGATCAAGA	0.478000													38	297					0	0	0.847076	0	0
HYDIN	54768	broad.mit.edu	37	16	71212846	71212846	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:71212846C>T	ENST00000393567.2	-	4	516	c.366G>A	c.(364-366)ttG>ttA	p.L122L	HYDIN_ENST00000393550.2_Silent_p.L122L|HYDIN_ENST00000541601.1_Silent_p.L139L|HYDIN_ENST00000448089.2_Silent_p.L122L|HYDIN_ENST00000538248.1_Silent_p.L149L|HYDIN_ENST00000448691.1_Silent_p.L122L|HYDIN_ENST00000321489.5_Silent_p.L122L|HYDIN_ENST00000288168.10_Silent_p.L139L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTGTTCCTCAAAATCAGTG	0.403000													29	89					0	0	0.729181	0	0
NFKB1	4790	broad.mit.edu	37	4	103534639	103534639	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:103534639G>A	ENST00000226574.4	+	23	3117	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	NFKB1_ENST00000505458.1_Missense_Mutation_p.E883K|NFKB1_ENST00000600343.1_Missense_Mutation_p.E703K|NFKB1_ENST00000394820.4_Missense_Mutation_p.E883K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	883	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GGGCTACACCGAAGCAATTGA	0.567000													8	21					0	0	0.307466	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973557	31973557	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:31973557G>A	ENST00000334680.2	+	1	144	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	40						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						ATGGTGTTATGAAAGATCTTG	0.483000													37	155					0	0	0.827153	0	0
CGN	57530	broad.mit.edu	37	1	151505015	151505015	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:151505015G>C	ENST00000271636.7	+	14	2842	c.2709G>C	c.(2707-2709)aaG>aaC	p.K903N		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	897						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCTGAGAAGACCTCTGGAG	0.522000													7	36					0	0	0.278610	0	0
KDM5B	10765	broad.mit.edu	37	1	202731854	202731854	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:202731854C>G	ENST00000367265.3	-	7	2055	c.891G>C	c.(889-891)aaG>aaC	p.K297N	KDM5B_ENST00000367264.2_Missense_Mutation_p.K333N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	297					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TAGATCGACTCTTGGGCTTTT	0.393000													34	154					0	0	0.796494	0	0
ZNF761	388561	broad.mit.edu	37	19	53950463	53950463	+	RNA	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:53950463G>C	ENST00000454407.1	+	0	395							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GACTTCTAAAGACTCTTGGTA	0.443000													10	30					0	0	0.335167	0	0
RPS20	6224	broad.mit.edu	37	8	56985678	56985678	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:56985678C>T	ENST00000519807.1	-	4	456	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RPS20_ENST00000520627.1_Missense_Mutation_p.E56K|RPS20_ENST00000521262.1_Missense_Mutation_p.E111K|RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000524349.1_Missense_Mutation_p.E56K|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000009589.3_Missense_Mutation_p.E111K	NM_001146227.1	NP_001139699.1	P60866	RS20_HUMAN	ribosomal protein S20	111					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			ACTTCCACCTCAACTCCTGGC	0.388000													18	33					0	0	0.608945	0	0
ZNF106	64397	broad.mit.edu	37	15	42742338	42742338	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:42742338G>A	ENST00000263805.4	-	2	2389	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TGTTTCATAAGATACATGAGA	0.453000													34	103					0	0	0.779181	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26898704	26898704	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:26898704G>A	ENST00000374168.2	+	20	2021	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E607K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E531K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E531K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E612K|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E632K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	623	Protein kinase 2.				axon guidance|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|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TGACACACCAGAGGAAATCCT	0.567000													10	55					0	0	0.361761	0	0
S100A7A	338324	broad.mit.edu	37	1	153391671	153391671	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:153391671G>C	ENST00000368729.4	+	3	249	c.192G>C	c.(190-192)aaG>aaC	p.K64N	S100A7A_ENST00000329256.2_Missense_Mutation_p.K64N|S100A7A_ENST00000368728.2_Missense_Mutation_p.K64N	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	64	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGACAAGAATGAGGATA	0.423000													24	60					0	0	0.639603	0	0
SLC15A4	121260	broad.mit.edu	37	12	129293444	129293444	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:129293444G>C	ENST00000266771.5	-	5	1186	c.1147C>G	c.(1147-1149)Ctg>Gtg	p.L383V	SLC15A4_ENST00000544112.1_Missense_Mutation_p.L46V	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	383					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTGTCCTTCAGAGGGATGAGC	0.557000													19	67					0	0	0.575678	0	0
ZNF251	90987	broad.mit.edu	37	8	145948232	145948232	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:145948232C>T	ENST00000292562.7	-	5	1088	c.813G>A	c.(811-813)ggG>ggA	p.G271G	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CAAAAGTTTTCCCACATTCAT	0.453000													26	21					0	0	0.706142	0	0
PAIP1	10605	broad.mit.edu	37	5	43527528	43527528	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:43527528C>G	ENST00000306846.3	-	11	1622	c.1390G>C	c.(1390-1392)Gaa>Caa	p.E464Q	PAIP1_ENST00000338972.4_Missense_Mutation_p.E352Q|PAIP1_ENST00000514514.1_3'UTR|PAIP1_ENST00000436644.2_Missense_Mutation_p.E385Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	464	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCATAAGCTTCTTCTATCTCT	0.328000													11	81					0	0	0.387290	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	48					0	0	0.150653	0	0
RRS1	23212	broad.mit.edu	37	8	67341837	67341837	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:67341837G>A	ENST00000320270.2	+	1	575	c.471G>A	c.(469-471)ctG>ctA	p.L157L		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	157					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AAGAATGGCTGATTGAGGTGC	0.637000													13	19					0	0	0.411799	0	0
NDUFA3	4696	broad.mit.edu	37	19	54606193	54606193	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:54606193G>A	ENST00000485876.1	+	1	49	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	NDUFA3_ENST00000391763.3_Missense_Mutation_p.A3T|NDUFA3_ENST00000303553.5_5'UTR|NDUFA3_ENST00000391764.3_Missense_Mutation_p.A3T|NDUFA3_ENST00000391762.1_Missense_Mutation_p.A3T|NDUFA3_ENST00000471292.1_Missense_Mutation_p.A3T			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	3					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	AAAGATGGCTGCGAGTAAGTG	0.692000											OREG0003632|OREG0003682	type=REGULATORY REGION|Gene=BC035023|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=NDUFA3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	11					0	0	0.361761	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118202613	118202613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:118202613G>T	ENST00000369230.3	+	3	397	c.251G>T	c.(250-252)gGa>gTa	p.G84V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	84					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCATATTTTGGAACAGACAAG	0.348000													9	31					1.12685e-05	1.17752e-05	0.307466	1	0
SGCZ	137868	broad.mit.edu	37	8	14022158	14022158	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:14022158C>T	ENST00000382080.1	-	5	1193	c.478G>A	c.(478-480)Gat>Aat	p.D160N	RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.D113N	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	147					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACCCTGCCATCTTCACTGGCT	0.423000													14	29					0	0	0.435327	0	0
GPR112	139378	broad.mit.edu	37	X	135427079	135427079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:135427079C>G	ENST00000394143.1	+	6	1505	c.1214C>G	c.(1213-1215)tCa>tGa	p.S405*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.S342*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S405*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S200*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S200*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	405					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTTTATTTTCAACTATTGAG	0.388000													25	49					0	0	0.706142	0	0
COX8A	1351	broad.mit.edu	37	11	63743743	63743743	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:63743743C>T	ENST00000314133.3	+	2	235	c.161C>T	c.(160-162)cCa>cTa	p.P54L	AP000721.4_ENST00000535431.1_Intron	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	54					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity										TTCCTCCTGCCAGCGGGCTGG	0.597000													100	135					0	0	0.870114	0	0
GABRG2	2566	broad.mit.edu	37	5	161569304	161569304	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:161569304C>A	ENST00000356592.3	+	7	1364	c.904C>A	c.(904-906)Cca>Aca	p.P302T	GABRG2_ENST00000361925.4_Missense_Mutation_p.P302T|GABRG2_ENST00000414552.2_Missense_Mutation_p.P342T|GABRG2_ENST00000393933.4_Missense_Mutation_p.P207T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	302					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GGATGCTGTTCCAGCCAGAAC	0.403000													64	22					7.59065e-32	8.3617e-32	0.870114	1	0
ZNF470	388566	broad.mit.edu	37	19	57088415	57088415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57088415G>C	ENST00000330619.8	+	6	1304	c.618G>C	c.(616-618)aaG>aaC	p.K206N	ZNF470_ENST00000391709.3_Missense_Mutation_p.K206N|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATACAGATAAGAAAAGCTTAA	0.289000													23	19					0	0	0.654019	0	0
LPHN3	23284	broad.mit.edu	37	4	62897307	62897307	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:62897307C>T	ENST00000512091.1	+	22	4113	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F	LPHN3_ENST00000507625.1_Silent_p.F1181F|LPHN3_ENST00000514996.1_Silent_p.F1113F|LPHN3_ENST00000508946.1_Silent_p.F1122F|LPHN3_ENST00000545650.1_Silent_p.F1122F|LPHN3_ENST00000514591.1_Silent_p.F1122F|LPHN3_ENST00000508693.1_Silent_p.F1190F|LPHN3_ENST00000507164.1_Silent_p.F1181F|LPHN3_ENST00000514157.1_Silent_p.F1113F|LPHN3_ENST00000506746.1_Silent_p.F1181F|LPHN3_ENST00000506700.1_Silent_p.F1113F|LPHN3_ENST00000509896.1_Silent_p.F1190F|LPHN3_ENST00000506720.1_Silent_p.F1190F|LPHN3_ENST00000511324.1_Silent_p.F1181F|LPHN3_ENST00000504896.1_Silent_p.F1122F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1100					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TATTTATTTTCCATTGTGTCC	0.333000													26	12					0	0	0.654019	0	0
SDC2	6383	broad.mit.edu	37	8	97620608	97620608	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:97620608G>C	ENST00000302190.4	+	4	1273	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	SDC2_ENST00000519914.1_Missense_Mutation_p.E89Q|SDC2_ENST00000518385.1_Missense_Mutation_p.E82Q|SDC2_ENST00000522911.1_Missense_Mutation_p.E89Q	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	118						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	CTCTGACTCAGAAAGGAAAAT	0.418000													7	28					0	0	0.278610	0	0
GARNL3	84253	broad.mit.edu	37	9	130119513	130119513	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:130119513G>C	ENST00000373387.4	+	21	2303	c.1951G>C	c.(1951-1953)Gac>Cac	p.D651H	GARNL3_ENST00000314904.5_Missense_Mutation_p.D651H|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D629H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	651	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CTGTCTGTCTGACTCTCCCAT	0.522000													43	45					0	0	0.864702	0	0
PSMC2	5701	broad.mit.edu	37	7	103006550	103006550	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:103006550G>C	ENST00000435765.1	+	10	1195	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	PSMC2_ENST00000292644.3_Missense_Mutation_p.E262Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.E125Q|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	262					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TGAACTCTTTGAAATGGCCAG	0.323000													40	51					0	0	0.870114	0	0
ZNF433	163059	broad.mit.edu	37	19	12126809	12126809	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:12126809G>C	ENST00000419886.2	-	5	1059	c.768C>G	c.(766-768)ttC>ttG	p.F256L	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.F291L|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGGAAGAGCTGAAGGCTTTCC	0.433000													13	37					0	0	0.435327	0	0
DDX54	79039	broad.mit.edu	37	12	113599751	113599751	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:113599751C>G	ENST00000314045.7	-	18	2274	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N	DDX54_ENST00000306014.5_Missense_Mutation_p.K749N	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	749					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTAATCTTCTTCTTGTCTT	0.602000													40	100					0	0	0.834066	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007381	93007381	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:93007381G>C	ENST00000268164.3	+	6	1131	c.894G>C	c.(892-894)ttG>ttC	p.L298F	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L277F	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	298					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCGGCCTCTTGATGTATACCC	0.438000													3	14					0	0	0.115264	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504859	151504859	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:151504859G>C	ENST00000317605.4	+	1	1783	c.678G>C	c.(676-678)gaG>gaC	p.E226D	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	226					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCTCGGCAGAGAGCGACGCCT	0.647000													12	41					0	0	0.411799	0	0
SLC22A3	6581	broad.mit.edu	37	6	160857877	160857877	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:160857877G>C	ENST00000392145.1	+	6	1068	c.1041G>C	c.(1039-1041)atG>atC	p.M347I	SLC22A3_ENST00000275300.2_Missense_Mutation_p.M347I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	347						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTCCCCAAATGAGGAAATGCA	0.348000													16	33					0	0	0.520397	0	0
HMHA1	23526	broad.mit.edu	37	19	1085820	1085820	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:1085820G>A	ENST00000313093.2	+	23	3457	c.3226G>A	c.(3226-3228)Gag>Aag	p.E1076K	HMHA1_ENST00000590577.1_Missense_Mutation_p.E711K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E944K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E1103K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E959K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1092K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E1080K|HMHA1_ENST00000591169.1_3'UTR	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1076					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CGGCAGTGAGGAGCAGCTGGA	0.672000													12	18					0	0	0.479597	0	0
TNS3	64759	broad.mit.edu	37	7	47319949	47319949	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:47319949G>C	ENST00000398879.1	-	29	4467	c.4101C>G	c.(4099-4101)ctC>ctG	p.L1367L	TNS3_ENST00000311160.9_Silent_p.L1367L|TNS3_ENST00000355730.3_Silent_p.L1127L			Q68CZ2	TENS3_HUMAN	tensin 3	1367						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCCGGAAGAAGAGCCTGTTGG	0.502000													8	37					0	0	0.387290	0	0
SSFA2	6744	broad.mit.edu	37	2	182767020	182767020	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:182767020G>C	ENST00000431877.2	+	8	1419	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	SSFA2_ENST00000320370.7_Missense_Mutation_p.E414Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E261Q|SSFA2_ENST00000409001.1_Missense_Mutation_p.E414Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	414						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGGTATTGTAGAATCCAAATT	0.368000													13	50					0	0	0.457914	0	0
CABIN1	23523	broad.mit.edu	37	22	24563212	24563212	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:24563212G>A	ENST00000398319.2	+	32	5998	c.5613G>A	c.(5611-5613)caG>caA	p.Q1871Q	CABIN1_ENST00000405822.2_Silent_p.Q1792Q|CABIN1_ENST00000337989.7_Silent_p.Q296Q|CABIN1_ENST00000263119.5_Silent_p.Q1871Q|CABIN1_ENST00000485008.1_3'UTR	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1871					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGGCCAGAAGGGTGTGG	0.617000													3	43					0	0	0.150653	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327605	69327605	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:69327605C>T	ENST00000305363.4	+	2	142	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	26					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCGTCATCTTCATATCCCTGA	0.423000													41	249					0	0	0.827153	0	0
CCDC28A	25901	broad.mit.edu	37	6	139106386	139106386	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:139106386G>A	ENST00000332797.6	+	4	770	c.615G>A	c.(613-615)caG>caA	p.Q205Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	205										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CCATTGAACAGATGGAACATG	0.388000													53	45					0	0	0.870114	0	0
MS4A14	84689	broad.mit.edu	37	11	60183186	60183186	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:60183186G>A	ENST00000300187.6	+	5	1022	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	MS4A14_ENST00000531783.1_Missense_Mutation_p.E282K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.E232K|MS4A14_ENST00000531787.1_Missense_Mutation_p.E137K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	249						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGAAGAAATTGAACCTTTGCC	0.383000													11	91					0	0	0.361761	0	0
TRIP12	9320	broad.mit.edu	37	2	230725127	230725127	+	Silent	SNP	A	A	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:230725127A>T	ENST00000389044.4	-	3	387	c.219T>A	c.(217-219)tcT>tcA	p.S73S	TRIP12_ENST00000543084.1_Silent_p.S73S|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Silent_p.S73S|TRIP12_ENST00000283943.5_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTACCTTTTAGAAAGGTGTC	0.348000													60	36					0	0	0.870114	0	0
DDX60L	91351	broad.mit.edu	37	4	169393962	169393962	+	Splice_Site	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:169393962T>C	ENST00000511577.1	-	2	138		c.e2-2		DDX60L_ENST00000260184.7_Splice_Site|DDX60L_ENST00000515088.1_Splice_Site|DDX60L_ENST00000505890.1_Splice_Site			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATGGCACCTCTGTAATAAAAG	0.343000													12	5					0	0	0.411799	0	0
TRIM9	114088	broad.mit.edu	37	14	51561183	51561183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:51561183G>A	ENST00000298355.3	-	1	1596	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	TRIM9_ENST00000360392.4_Nonsense_Mutation_p.Q159*|TRIM9_ENST00000338969.5_Nonsense_Mutation_p.Q159*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	159					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTGCTCTGCTGGTAGCGGTCA	0.617000													11	28					0	0	0.361761	0	0
ZNF208	7757	broad.mit.edu	37	19	22156005	22156005	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:22156005A>T	ENST00000397126.4	-	4	1979	c.1831T>A	c.(1831-1833)Tgt>Agt	p.C611S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTCTTCACATTTGTAGGGT	0.373000													27	23					0	0	0.750413	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52810452	52810452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:52810452G>A	ENST00000287727.3	+	18	4124	c.3952G>A	c.(3952-3954)Gaa>Aaa	p.E1318K	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E1318K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E1259K	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1318					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GTTTTTCCTAGAAAACGATGA	0.433000													20	49					0	0	0.654019	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554059	140554059	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:140554059G>A	ENST00000231137.3	+	1	1817	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGCTGGTG	0.726000													50	29					0	0	0.870114	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401080	139401080	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:139401080C>T	ENST00000277541.6	-	24	3988	c.3913G>A	c.(3913-3915)Gag>Aag	p.E1305K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1305	EGF-like 33.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGACGGACTCGCAGCGGCGC	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	11					0	0	0.307466	0	0
UNC13C	440279	broad.mit.edu	37	15	54586136	54586136	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:54586136G>A	ENST00000545554.1	+	10	3862	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1286N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1288N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1288	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGAGTATGGGATGAAGATGA	0.358000													31	29					0	0	0.729181	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776351	27776351	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:27776351G>C	ENST00000358739.3	+	1	453	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CAAGAAGACCGAGAGCCACCA	0.542000													24	20					0	0	0.654019	0	0
NBPF1	55672	broad.mit.edu	37	1	16893778	16893778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:16893778G>A	ENST00000430580.2	-	25	3622	c.2735C>T	c.(2734-2736)tCa>tTa	p.S912L	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	912	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAAGGAGTTGAATAACATCT	0.483000													19	926					0	0	0.575678	0	0
LHPP	64077	broad.mit.edu	37	10	126172787	126172787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:126172787C>T	ENST00000368842.5	+	2	233	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	LHPP_ENST00000368839.1_Nonsense_Mutation_p.Q69*|LHPP_ENST00000392757.4_Nonsense_Mutation_p.Q69*	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	69					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		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;0.163)|Colorectal(40;0.187)		GGGGCAGCTTCAGAGGCTGGG	0.627000													13	51					0	0	0.520397	0	0
NCLN	56926	broad.mit.edu	37	19	3192541	3192541	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:3192541C>T	ENST00000246117.4	+	2	689	c.258C>T	c.(256-258)ctC>ctT	p.L86L	NCLN_ENST00000590671.1_Silent_p.L12L	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	86					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCGTGCTCATGCGGCTAC	0.697000													6	18					0	0	0.217242	0	0
AKR1C4	1109	broad.mit.edu	37	10	5254582	5254582	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:5254582G>C	ENST00000380448.1	+	8	827	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	AKR1C4_ENST00000263126.1_Missense_Mutation_p.E192Q			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	192					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TCTAAAGGTAGAATGTCATCC	0.348000													11	30					0	0	0.387290	0	0
SF3B1	23451	broad.mit.edu	37	2	198265441	198265441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:198265441C>T	ENST00000335508.5	-	18	2807	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	906					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCATTACCTCTGTAGTCTGT	0.308000			Mis		myelodysplastic syndrome								16	77					0	0	0.520397	0	0
TAT	6898	broad.mit.edu	37	16	71609874	71609874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:71609874C>G	ENST00000355962.4	-	3	424	c.291G>C	c.(289-291)atG>atC	p.M97I	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	97					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGGCATCTTTCATTGCCTGGG	0.488000													20	87					0	0	0.639603	0	0
LRRK2	120892	broad.mit.edu	37	12	40689444	40689444	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:40689444G>A	ENST00000298910.7	+	23	3152	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E1032K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1032					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAGCTATGTGAAGTAAATTT	0.343000													5	29					0	0	0.217242	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738606	135738606	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:135738606G>T	ENST00000375845.3	-	9	3735	c.3705C>A	c.(3703-3705)gcC>gcA	p.A1235A	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Silent_p.A96A|MAP3K19_ENST00000392917.3_Silent_p.A367A|MAP3K19_ENST00000358371.4_Silent_p.A1122A|MAP3K19_ENST00000392918.3_Silent_p.A369A|MAP3K19_ENST00000375844.3_Silent_p.A417A	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TGACTTCTGGGGCCATCCAAT	0.502000													13	37					4.3838e-07	4.63051e-07	0.435327	1	0
RNF214	257160	broad.mit.edu	37	11	117110556	117110556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:117110556C>T	ENST00000530849.1	+	3	203	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	RNF214_ENST00000531287.1_Nonsense_Mutation_p.Q65*|RNF214_ENST00000531452.1_Nonsense_Mutation_p.Q220*|RNF214_ENST00000300650.4_Nonsense_Mutation_p.Q220*			Q8ND24	RN214_HUMAN	ring finger protein 214	220							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAACACAGATCAAGATATTGA	0.318000													6	17					0	0	0.217242	0	0
FAT4	79633	broad.mit.edu	37	4	126238739	126238739	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:126238739C>G	ENST00000394329.3	+	1	1186	c.1173C>G	c.(1171-1173)aaC>aaG	p.N391K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	391	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N391N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGCGGCCAACGGGAACATCT	0.607000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179640236	179640236	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:179640236C>T	ENST00000589042.1	-	28	6579	c.6355G>A	c.(6355-6357)Gaa>Aaa	p.E2119K	TTN_ENST00000591111.1_Missense_Mutation_p.E2119K|TTN_ENST00000342992.6_Missense_Mutation_p.E2119K|TTN_ENST00000460472.2_Missense_Mutation_p.E2073K|TTN_ENST00000342175.6_Missense_Mutation_p.E2073K|TTN_ENST00000359218.5_Missense_Mutation_p.E2073K|TTN_ENST00000360870.5_Missense_Mutation_p.E2119K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1882	Ig-like 10.						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)			TCAGACCGTTCAATTTTGACA	0.493000													9	22					0	0	0.307466	0	0
GYS1	2997	broad.mit.edu	37	19	49484831	49484831	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49484831G>T	ENST00000323798.3	-	8	1321	c.1125C>A	c.(1123-1125)ttC>ttA	p.F375L	GYS1_ENST00000544287.1_Missense_Mutation_p.F8L|GYS1_ENST00000541188.1_Missense_Mutation_p.F295L|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.F311L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	375					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTTCCACGTTGAAATTGTTGG	0.587000													4	33					0.00198382	0.00202957	0.248553	1	0
CRNN	49860	broad.mit.edu	37	1	152382205	152382205	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:152382205C>G	ENST00000271835.3	-	3	1415	c.1353G>C	c.(1351-1353)gtG>gtC	p.V451V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	451					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAGGATCACTGTCTCCC	0.577000													16	56					0	0	0.500413	0	0
XYLT1	64131	broad.mit.edu	37	16	17221547	17221547	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:17221547G>A	ENST00000261381.6	-	10	2283	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	733					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCTCCCAAAGTCACTGGGTG	0.483000													114	93					0	0	0.870114	0	0
PIGO	84720	broad.mit.edu	37	9	35092757	35092757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:35092757C>T	ENST00000378617.3	-	7	1521	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	PIGO_ENST00000361778.2_Missense_Mutation_p.R376Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R376Q|PIGO_ENST00000341666.3_Missense_Mutation_p.R376Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	376					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGAAGAAATCGGGACACCTG	0.512000													25	17					0	0	0.681144	0	0
OR5B3	441608	broad.mit.edu	37	11	58170596	58170596	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:58170596G>C	ENST00000309403.2	-	1	286	c.287C>G	c.(286-288)gCt>gGt	p.A96G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATTTGAGCAGCACATGCATT	0.448000													24	87					0	0	0.639603	0	0
HDAC4	9759	broad.mit.edu	37	2	239990186	239990186	+	Splice_Site	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:239990186T>C	ENST00000345617.3	-	23	3644	c.2854_splice	c.e23+1	p.R951_splice	HDAC4_ENST00000543185.1_Splice_Site_p.R535_splice	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	951	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCACTTACATCTGGCGGAGA	0.572000													4	22					0	0	0.150653	0	0
ACAP2	23527	broad.mit.edu	37	3	195015475	195015475	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:195015475C>A	ENST00000326793.6	-	18	1968	c.1738G>T	c.(1738-1740)Gtg>Ttg	p.V580L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	580					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTGGCTGACACCGTGGAGGGT	0.363000													8	54					2.17888e-05	2.26715e-05	0.335167	1	0
CXorf40B	541578	broad.mit.edu	37	X	149100770	149100770	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:149100770C>G	ENST00000370406.3	-	5	1297	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CXorf40B_ENST00000370404.1_Missense_Mutation_p.E157Q|CXorf40B_ENST00000355203.2_Missense_Mutation_p.E157Q|CXorf40B_ENST00000462691.1_Intron			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	157										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCACACTTCATGCCCCAAA	0.483000													13	84					0	0	0.435327	0	0
DLST	1743	broad.mit.edu	37	14	75359641	75359641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75359641C>T	ENST00000334220.4	+	8	608	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Nonsense_Mutation_p.Q97*	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	183					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CATACCCACTCAGATGCCACC	0.587000													18	21					0	0	0.592651	0	0
PTPRT	11122	broad.mit.edu	37	20	40980908	40980908	+	Silent	SNP	G	G	T	rs9941770		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:40980908G>T	ENST00000373198.3	-	10	1813	c.1578C>A	c.(1576-1578)gtC>gtA	p.V526V	PTPRT_ENST00000356100.2_Silent_p.V526V|PTPRT_ENST00000373193.3_Silent_p.V526V|PTPRT_ENST00000373190.1_Silent_p.V526V|PTPRT_ENST00000373201.1_Silent_p.V526V|PTPRT_ENST00000373187.1_Silent_p.V526V|PTPRT_ENST00000373184.1_Silent_p.V526V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	526	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAGCGAGCCGACAGCCTTGT	0.522000													10	48					1.05317e-09	1.12216e-09	0.457914	1	0
KIF23	9493	broad.mit.edu	37	15	69739225	69739225	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:69739225G>A	ENST00000260363.4	+	22	2929	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K	KIF23_ENST00000352331.4_Missense_Mutation_p.E834K|KIF23_ENST00000395392.2_Missense_Mutation_p.E930K|KIF23_ENST00000537891.1_Missense_Mutation_p.E651K|KIF23_ENST00000558585.1_Missense_Mutation_p.E651K|KIF23_ENST00000559279.1_Missense_Mutation_p.E834K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	938					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTGGCTGTGGAGATGAGAGC	0.468000													13	70					0	0	0.457914	0	0
BTD	686	broad.mit.edu	37	3	15677117	15677117	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:15677117C>T	ENST00000383778.4	+	2	529	c.171C>T	c.(169-171)atC>atT	p.I57I	BTD_ENST00000303498.5_Silent_p.I77I|BTD_ENST00000437172.1_Silent_p.I79I|BTD_ENST00000449107.1_Silent_p.I79I|BTD_ENST00000482824.1_3'UTR			P43251	BTD_HUMAN	biotinidase	77	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TGGCTCTCATCAGCCGCCAAG	0.542000													30	54					0	0	0.740014	0	0
WNT3	7473	broad.mit.edu	37	17	44851102	44851102	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:44851102C>T	ENST00000225512.5	-	2	416	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	85					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			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCGGCGGCCCCGGAACTGGTG	0.647000													34	16					0	0	0.812448	0	0
CKM	1158	broad.mit.edu	37	19	45818846	45818846	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:45818846C>A	ENST00000221476.3	-	4	532	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	120					creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTCCAGGTCGTCTCCACCC	0.677000													10	25					2.17888e-05	2.26715e-05	0.335167	1	0
EXOC4	60412	broad.mit.edu	37	7	133059592	133059592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:133059592G>A	ENST00000253861.4	+	7	1047	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	EXOC4_ENST00000539845.1_Missense_Mutation_p.E239K|EXOC4_ENST00000393161.2_Missense_Mutation_p.E340K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	340					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTGCTTCTAGAACTGCTGGA	0.423000													17	39					0	0	0.520397	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627116	43627116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:43627116G>A	ENST00000332857.6	-	4	1599	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTTATTCTGCGATGCAGGGCA	0.507000													70	336					0	0	0.870114	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034048	52034048	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:52034048G>A	ENST00000346477.3	-	3	661	c.593C>T	c.(592-594)tCg>tTg	p.S198L	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S198L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S198L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S162L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S198L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S187L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	198	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGAGCACCGAGGACTGGGT	0.652000													19	66					0	0	0.575678	0	0
KIF6	221458	broad.mit.edu	37	6	39688494	39688494	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:39688494C>T	ENST00000287152.7	-	2	254	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	KIF6_ENST00000538893.1_Missense_Mutation_p.E54K|KIF6_ENST00000373216.3_Missense_Mutation_p.E54K|KIF6_ENST00000373215.3_Missense_Mutation_p.E54K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	54	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTGTAGCTTTCTCGCTTATTA	0.299000													15	25					0	0	0.500413	0	0
LRRC25	126364	broad.mit.edu	37	19	18507145	18507145	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:18507145C>A	ENST00000339007.3	-	1	1282	c.629G>T	c.(628-630)gGg>gTg	p.G210V	LRRC25_ENST00000595840.1_Missense_Mutation_p.G210V	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	210						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GGGCTTGGGCCCATCCTGAGC	0.667000													4	49					0.150653	0.152213	0.150653	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140737171	140737171	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:140737171G>C	ENST00000571252.1	+	1	2404	c.2404G>C	c.(2404-2406)Gga>Cga	p.G802R	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAACAAAAGGAGACCCTAA	0.393000													11	26					0	0	0.361761	0	0
DNAH11	8701	broad.mit.edu	37	7	21599363	21599363	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:21599363G>C	ENST00000328843.6	+	4	866	c.835G>C	c.(835-837)Gat>Cat	p.D279H	DNAH11_ENST00000409508.3_Missense_Mutation_p.D279H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	279	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCAGAACTAGATTTCTGGAT	0.358000									Kartagener syndrome				7	8					0	0	0.307466	0	0
HK2	3099	broad.mit.edu	37	2	75115157	75115157	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:75115157G>C	ENST00000290573.2	+	16	2947	c.2347G>C	c.(2347-2349)Gaa>Caa	p.E783Q	HK2_ENST00000409174.1_Missense_Mutation_p.E755Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	783	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGGCATCTTTGAAACCAAGTT	0.512000													17	58					0	0	0.520397	0	0
ARG2	384	broad.mit.edu	37	14	68086772	68086772	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:68086772G>A	ENST00000261783.3	+	1	258	c.78G>A	c.(76-78)gtG>gtA	p.V26V	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	26					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TCCACTCCGTGGCTGTGATAG	0.622000													8	15					0	0	0.307466	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421736	62421736	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:62421736G>C	ENST00000245663.4	-	2	525	c.375C>G	c.(373-375)atC>atG	p.I125M	ZBTB46_ENST00000395104.1_Missense_Mutation_p.I125M|ZBTB46_ENST00000302995.2_Missense_Mutation_p.I125M	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGCCGCCTTGATGAAGTCGT	0.612000													5	22					0	0	0.361761	0	0
THBS2	7058	broad.mit.edu	37	6	169640633	169640633	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:169640633T>G	ENST00000366787.3	-	7	1195	c.946A>C	c.(946-948)Aac>Cac	p.N316H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	316					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCTGACATGTTCCTTGTCTTA	0.483000													27	24					0	0	0.750413	0	0
CHN1	1123	broad.mit.edu	37	2	175666502	175666502	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:175666502C>T	ENST00000409900.3	-	12	1454	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	CHN1_ENST00000409597.1_Missense_Mutation_p.E197K|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.E256K|CHN1_ENST00000409156.3_Missense_Mutation_p.E355K	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	381	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTCAGTGCTTCATGAAGGGTT	0.408000			T	TAF15	extraskeletal myxoid chondrosarcoma								30	107					0	0	0.740014	0	0
MKL1	57591	broad.mit.edu	37	22	40816975	40816975	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:40816975G>A	ENST00000396617.3	-	10	1347	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	MKL1_ENST00000355630.3_Missense_Mutation_p.P253S|MKL1_ENST00000402042.1_Missense_Mutation_p.P203S|MKL1_ENST00000407029.1_Missense_Mutation_p.P253S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	253	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCCATGGGGGGTGCCCCCCTG	0.592000			T	RBM15	acute megakaryocytic leukemia								32	25					0	0	0.760397	0	0
MAP3K13	9175	broad.mit.edu	37	3	185183579	185183579	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:185183579G>A	ENST00000265026.3	+	9	1767	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	478					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.R478L(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGCTTGAGCGGGCGAATAAT	0.473000													19	87					0	0	0.557998	0	0
CRELD1	78987	broad.mit.edu	37	3	9979744	9979744	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:9979744C>T	ENST00000383811.3	+	4	1013	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CRELD1_ENST00000452070.1_Silent_p.S138S|CRELD1_ENST00000397170.3_Silent_p.S138S|CRELD1_ENST00000326434.5_Silent_p.S138S	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	138					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCTCAGATTCCCTGAAGCTCT	0.632000													19	5					0	0	0.639603	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976647	41976647	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:41976647C>G	ENST00000372584.1	-	8	7707	c.6693G>C	c.(6691-6693)ctG>ctC	p.L2231L	HIVEP3_ENST00000429157.2_Silent_p.L2231L|HIVEP3_ENST00000372583.1_Silent_p.L2232L|HIVEP3_ENST00000247584.5_Silent_p.L2232L|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2232					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCCCCTGTCAGGTCGCTGC	0.692000													21	37					0	0	0.654019	0	0
ADGRG6	57211	broad.mit.edu	37	6	142718791	142718791	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:142718791A>G	ENST00000230173.6	+	10	1942	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	GPR126_ENST00000296932.8_Missense_Mutation_p.N461S|GPR126_ENST00000367608.2_Missense_Mutation_p.N461S|GPR126_ENST00000367609.3_Missense_Mutation_p.N489S	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	489					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTACCAACAATACTAATTTG	0.398000													29	23					0	0	0.729181	0	0
ZNF618	114991	broad.mit.edu	37	9	116794974	116794974	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:116794974T>G	ENST00000288466.7	+	11	954	c.855T>G	c.(853-855)ttT>ttG	p.F285L	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.F378L	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAACCACTTTGAAGAGACGA	0.562000													39	71					0	0	0.812448	0	0
NOL12	79159	broad.mit.edu	37	22	38084953	38084953	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:38084953A>G	ENST00000359114.4	+	4	405	c.335A>G	c.(334-336)gAc>gGc	p.D112G	RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	112						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					ACCATCAGTGACCTGGACCTC	0.647000													32	109					0	0	0.788014	0	0
OR51A7	119687	broad.mit.edu	37	11	4929349	4929349	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:4929349C>A	ENST00000359350.4	+	1	750	c.750C>A	c.(748-750)ttC>ttA	p.F250L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTCACCTTCTATGTGCCCA	0.483000													40	56					4.17593e-13	4.49858e-13	0.834066	1	0
GPATCH2L	55668	broad.mit.edu	37	14	76621245	76621245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:76621245C>G	ENST00000261530.7	+	2	605	c.539C>G	c.(538-540)tCa>tGa	p.S180*	GPATCH2L_ENST00000556663.1_Nonsense_Mutation_p.S180*|GPATCH2L_ENST00000557263.1_Nonsense_Mutation_p.S180*|GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.S180*	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		TGGACCTCATCAGGCCACGGA	0.483000													6	19					0	0	0.217242	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154808	9154808	+	Splice_Site	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:9154808C>G	ENST00000382496.5	-	12	1939		c.e12-1			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTTCCGTAATCTATGAAGGTC	0.498000													29	130					0	0	0.729181	0	0
TDRD5	163589	broad.mit.edu	37	1	179603612	179603612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:179603612G>T	ENST00000444136.1	+	8	1397	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	TDRD5_ENST00000367614.1_Nonsense_Mutation_p.E383*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.E383*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	383	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAAGAAAATAGAAGCCAAAGC	0.383000													22	72					6.32553e-13	6.79925e-13	0.681144	1	0
ERC2	26059	broad.mit.edu	37	3	55984542	55984542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:55984542G>A	ENST00000288221.6	-	13	2569	c.2314C>T	c.(2314-2316)Caa>Taa	p.Q772*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	772						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCAACTGTTGATTGTGCTTG	0.433000													14	30					0	0	0.500413	0	0
DLST	1743	broad.mit.edu	37	14	75361017	75361017	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75361017G>C	ENST00000334220.4	+	10	736	c.675G>C	c.(673-675)gaG>gaC	p.E225D	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.E139D	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	225					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		ACTTTCAGGAGAAAATGAACA	0.473000													47	83					0	0	0.870114	0	0
HAS1	3036	broad.mit.edu	37	19	52217097	52217097	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:52217097G>A	ENST00000540069.2	-	5	1377	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	HAS1_ENST00000601714.1_Silent_p.G447G|HAS1_ENST00000222115.1_Silent_p.G440G			Q92839	HAS1_HUMAN	hyaluronan synthase 1	440					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGTGCCACGCCCTGCACGC	0.697000													7	13					0	0	0.248553	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606428	6606428	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:6606428G>A	ENST00000433363.2	-	5	810	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	SLC13A5_ENST00000381074.4_Silent_p.L150L|SLC13A5_ENST00000293800.6_Silent_p.L176L|SLC13A5_ENST00000573648.1_Silent_p.L193L	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	193						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCTGCCCCAGAGTGGGGCCT	0.632000													25	77					0	0	0.693898	0	0
SOX7	83595	broad.mit.edu	37	8	10683716	10683716	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:10683716C>T	ENST00000554914.1	-	5	430	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PINX1_ENST00000314787.3_Missense_Mutation_p.E114K|SOX7_ENST00000553390.1_Missense_Mutation_p.E114K|PINX1_ENST00000519088.1_Missense_Mutation_p.E114K|PINX1_ENST00000426190.2_Missense_Mutation_p.E112K			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	55					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)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GACTTTTCCTCAAGGCTAAAA	0.299000													12	6					0	0	0.411799	0	0
TRPM7	54822	broad.mit.edu	37	15	50866605	50866605	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:50866605C>G	ENST00000313478.7	-	36	5455	c.5174G>C	c.(5173-5175)gGa>gCa	p.G1725A	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.G1724A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1725	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTAAATTCTCCAGTCATACA	0.343000													4	31					0	0	0.184627	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445600	32445600	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:32445600C>G	ENST00000282587.5	+	14	1241	c.1204C>G	c.(1204-1206)Cta>Gta	p.L402V	SLC30A6_ENST00000357055.3_Missense_Mutation_p.L205V|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L442V|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L373V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L379V|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L328V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	402						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGTTATTCTTCTAAACACACA	0.418000													82	24					0	0	0.870114	0	0
PTENP1	11191	broad.mit.edu	37	9	33675981	33675981	+	RNA	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:33675981C>G	ENST00000532280.1	-	0	1516					NR_023917.1																						AGGAATACATCTTCACCTTTA	0.448000													23	100					0	0	0.654019	0	0
AOC1	26	broad.mit.edu	37	7	150554438	150554438	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:150554438C>A	ENST00000493429.1	+	4	1464	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	AOC1_ENST00000416793.2_Missense_Mutation_p.P294T|AOC1_ENST00000360937.4_Missense_Mutation_p.P294T|AOC1_ENST00000467291.1_Missense_Mutation_p.P294T					amine oxidase, copper containing 1																		CTTCCCCAGCCCCATCCATGT	0.701000													5	4					0.184627	0.186153	0.184627	1	0
LRP1B	53353	broad.mit.edu	37	2	141771238	141771238	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:141771238T>C	ENST00000389484.3	-	14	3238	c.2267A>G	c.(2266-2268)tAt>tGt	p.Y756C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	756					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATTCATATAATCAGTCCA	0.388000										TSP Lung(27;0.18)			45	52					0	0	0.864702	0	0
VEPH1	79674	broad.mit.edu	37	3	156978935	156978935	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:156978935G>C	ENST00000362010.2	-	14	2797	c.2490C>G	c.(2488-2490)acC>acG	p.T830T	VEPH1_ENST00000392833.2_Silent_p.T785T|VEPH1_ENST00000543418.1_Silent_p.T785T|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.T830T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	830						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408000													14	74					0	0	0.479597	0	0
EP300	2033	broad.mit.edu	37	22	41573260	41573260	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:41573260T>C	ENST00000263253.7	+	31	6764	c.5545T>C	c.(5545-5547)Tcc>Ccc	p.S1849P	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1849					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			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGCCTCCCTTCCCCCACTCC	0.637000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				3	53					0	0	0.335167	0	0
CA3	761	broad.mit.edu	37	8	86360296	86360296	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:86360296G>A	ENST00000285381.2	+	7	780	c.697G>A	c.(697-699)Gag>Aag	p.E233K	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	233					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCAGTGCTGAGAACGAGCC	0.542000													14	17					0	0	0.435327	0	0
XPO4	64328	broad.mit.edu	37	13	21417053	21417053	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:21417053C>G	ENST00000400602.2	-	6	743	c.708G>C	c.(706-708)tgG>tgC	p.W236C	XPO4_ENST00000255305.6_Missense_Mutation_p.W236C	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	236					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		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)		GAAGAAAGTTCCAGCTCAAGA	0.408000													7	20					0	0	0.248553	0	0
SERINC4	619189	broad.mit.edu	37	15	44087395	44087395	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:44087395G>T	ENST00000319327.6	-	12	1594	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Missense_Mutation_p.L210M|SERINC4_ENST00000299969.6_Missense_Mutation_p.N379K	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	454					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTCTTTTCCAGTTCTGCTCCC	0.507000													11	33					2.27111e-07	2.40413e-07	0.411799	1	0
EIF5	1983	broad.mit.edu	37	14	103807372	103807372	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:103807372G>C	ENST00000216554.3	+	12	1955	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	EIF5_ENST00000392715.2_Missense_Mutation_p.D427H|EIF5_ENST00000558506.1_Missense_Mutation_p.D427H	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	427	Asp-rich (acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGACGACATCGATATTGATGC	0.403000													7	42					0	0	0.278610	0	0
ARFRP1	10139	broad.mit.edu	37	20	62338354	62338354	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:62338354C>G	ENST00000359715.4	-	1	656	c.90G>C	c.(88-90)aaG>aaC	p.K30N	ARFRP1_ENST00000440854.1_Missense_Mutation_p.K30N|ARFRP1_ENST00000324228.2_Missense_Mutation_p.K30N			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	30					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CACTCACCGTCTTCCCAGCAT	0.607000													7	22					0	0	0.335167	0	0
TOP2B	7155	broad.mit.edu	37	3	25666199	25666199	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:25666199C>T	ENST00000435706.2	-	19	2506	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K	TOP2B_ENST00000264331.4_Missense_Mutation_p.E774K			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	774					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GCCGACATCTCAGCAACAGAG	0.363000													4	14					0	0	0.184627	0	0
GLG1	2734	broad.mit.edu	37	16	74527006	74527006	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:74527006C>G	ENST00000422840.2	-	7	1082	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	GLG1_ENST00000447066.2_Silent_p.L350L|GLG1_ENST00000205061.5_Silent_p.L361L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	361						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCTGGGCAATCAGCTTTTGGC	0.453000													22	62					0	0	0.681144	0	0
NCOR2	9612	broad.mit.edu	37	12	124957522	124957522	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:124957522C>T	ENST00000356219.3	-	5	722	c.567G>A	c.(565-567)caG>caA	p.Q189Q	NCOR2_ENST00000429285.2_Silent_p.Q189Q|NCOR2_ENST00000405201.1_Silent_p.Q189Q|NCOR2_ENST00000404621.1_Silent_p.Q189Q|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Silent_p.Q189Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	189					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTTAGAGATCTGCTGCTCTA	0.577000													30	77					0	0	0.779181	0	0
LRP5	4041	broad.mit.edu	37	11	68179074	68179074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:68179074C>T	ENST00000294304.7	+	11	2595	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	830	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATCGAGTCGTCCAACATG	0.657000													5	56					0	0	0.184627	0	0
SCML1	6322	broad.mit.edu	37	X	17762333	17762333	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17762333C>G	ENST00000380043.3	+	2	355	c.27C>G	c.(25-27)atC>atG	p.I9M	SCML1_ENST00000398080.1_Intron|SCML1_ENST00000380045.3_Intron|SCML1_ENST00000380041.3_Missense_Mutation_p.I9M	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	9					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I9M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CCAGTGAAATCGATGTGGTTT	0.328000													19	29					0	0	0.592651	0	0
TIMM13	26517	broad.mit.edu	37	19	2427036	2427036	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:2427036G>C	ENST00000215570.3	-	3	558	c.198C>G	c.(196-198)atC>atG	p.I66M	TIMM13_ENST00000591871.1_Missense_Mutation_p.I51M	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	66					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			endometrium(1)|prostate(1)	2		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)		TGCACATGGCGATGCACTTCT	0.706000													5	7					0	0	0.217242	0	0
LRCH3	84859	broad.mit.edu	37	3	197553768	197553768	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:197553768G>C	ENST00000438796.2	+	5	704	c.660G>C	c.(658-660)ttG>ttC	p.L220F	LRCH3_ENST00000425562.2_Missense_Mutation_p.L220F|LRCH3_ENST00000414675.2_Missense_Mutation_p.L220F|LRCH3_ENST00000334859.4_Missense_Mutation_p.L220F|LRCH3_ENST00000441090.2_Missense_Mutation_p.L94F			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	220						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGTTGCCTTTGATACGGTTAG	0.383000													20	93					0	0	0.639603	0	0
PGBD2	267002	broad.mit.edu	37	1	249211397	249211397	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:249211397C>T	ENST00000539153.1	+	4	860	c.605C>T	c.(604-606)cCc>cTc	p.P202L	PGBD2_ENST00000329291.5_Missense_Mutation_p.P205L|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	205										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAAACCTCTCCCGATTCACAT	0.398000													34	120					0	0	0.779181	0	0
SCD5	79966	broad.mit.edu	37	4	83719652	83719652	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:83719652G>C	ENST00000319540.4	-	1	358	c.39C>G	c.(37-39)ttC>ttG	p.F13L	SCD5_ENST00000273908.4_Missense_Mutation_p.F13L|SCD5_ENST00000282709.4_Missense_Mutation_p.F13L	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	13					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGCGTCGCAGAAAGGGATCT	0.736000													6	6					0	0	0.278610	0	0
TTC23L	153657	broad.mit.edu	37	5	34863022	34863022	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:34863022G>T	ENST00000505624.1	+	5	502	c.399G>T	c.(397-399)aaG>aaT	p.K133N	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	133							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TTCAGGCCAAGAAACATGCTA	0.478000													13	69					9.31168e-06	9.75129e-06	0.435327	1	0
MBTPS1	8720	broad.mit.edu	37	16	84089658	84089658	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:84089658C>T	ENST00000343411.3	-	22	3409	c.2914G>A	c.(2914-2916)Gtg>Atg	p.V972M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	972					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGGCCTCACTTGAGGGCGA	0.498000													40	32					0	0	0.847076	0	0
GPATCH3	63906	broad.mit.edu	37	1	27220788	27220788	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:27220788C>T	ENST00000361720.5	-	3	1013	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	330	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCACCCTTCTCCCACTTGA	0.582000													41	95					0	0	0.847076	0	0
SPATA5	166378	broad.mit.edu	37	4	123977581	123977581	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:123977581A>G	ENST00000274008.3	+	12	2188	c.2119A>G	c.(2119-2121)Aga>Gga	p.R707G	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	707					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGAATCTGAAAGAGCAGTTAG	0.383000													10	13					0	0	0.335167	0	0
ASXL3	80816	broad.mit.edu	37	18	31324115	31324115	+	Missense_Mutation	SNP	G	G	C	rs144287211	by1000genomes	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:31324115G>C	ENST00000269197.5	+	12	4303	c.4303G>C	c.(4303-4305)Gaa>Caa	p.E1435Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAGTGCTGAAAGCTTGGA	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	176					0	0	0.796494	0	0
MFSD2A	84879	broad.mit.edu	37	1	40434278	40434278	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:40434278G>A	ENST00000372809.5	+	13	1572	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E308K|MFSD2A_ENST00000372811.5_Missense_Mutation_p.E464K	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	477					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCGCAGCCGGAACGTGTCAA	0.587000													45	84					0	0	0.859065	0	0
FCF1	51077	broad.mit.edu	37	14	75181623	75181623	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75181623C>G	ENST00000341162.4	+	3	174	c.120C>G	c.(118-120)ccC>ccG	p.P40P	FCF1_ENST00000553615.1_Silent_p.P25P|FCF1_ENST00000534938.2_Silent_p.P28P	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	40					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		AGAAGGATCCCAGCGCATTAA	0.353000													5	7					0	0	0.184627	0	0
COL1A2	1278	broad.mit.edu	37	7	94052411	94052411	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:94052411C>T	ENST00000297268.6	+	40	3017	c.2546C>T	c.(2545-2547)tCt>tTt	p.S849F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	849			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGGTCCCTCTGGAGAGGCT	0.507000										HNSCC(75;0.22)			16	91					0	0	0.500413	0	0
DOCK2	1794	broad.mit.edu	37	5	169454870	169454870	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:169454870G>C	ENST00000256935.8	+	34	3465	c.3385G>C	c.(3385-3387)Gaa>Caa	p.E1129Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.E621Q|DOCK2_ENST00000540750.1_Missense_Mutation_p.E190Q|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1129	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCAGTTTGAAAACGAAAT	0.458000													15	43					0	0	0.520397	0	0
TKTL2	84076	broad.mit.edu	37	4	164393894	164393894	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:164393894T>A	ENST00000280605.3	-	1	1153	c.993A>T	c.(991-993)aaA>aaT	p.K331N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	331						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				cacggcccagtttagccagag	0.423000													28	82					0	0	0.740014	0	0
GRHL1	29841	broad.mit.edu	37	2	10136059	10136059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:10136059C>T	ENST00000324907.9	+	13	1688	c.1552C>T	c.(1552-1554)Cct>Tct	p.P518S	GRHL1_ENST00000405379.2_Missense_Mutation_p.P518S|GRHL1_ENST00000324883.5_Missense_Mutation_p.P329S|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	518					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGCTGTCCCTCCTTCTACCAA	0.458000													42	92					0	0	0.864702	0	0
EMC7	56851	broad.mit.edu	37	15	34382601	34382601	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:34382601G>C	ENST00000256545.4	-	3	520	c.412C>G	c.(412-414)Ctc>Gtc	p.L138V		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		TTCATTTGGAGAGGATAGGGC	0.393000													15	60					0	0	0.500413	0	0
RASGRF1	5923	broad.mit.edu	37	15	79294085	79294085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:79294085G>A	ENST00000419573.3	-	17	2816	c.2542C>T	c.(2542-2544)Cag>Tag	p.Q848*	RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q64*|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q832*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	850					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCATCACTCTGGTTTTGATCA	0.318000													47	58					0	0	0.870114	0	0
MCF2L2	23101	broad.mit.edu	37	3	182923663	182923663	+	Splice_Site	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:182923663C>T	ENST00000328913.3	-	25	3182		c.e25+1		MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000468976.1_Splice_Site	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGTAACCTACCTTTGATATT	0.378000													3	21					0	0	0.115264	0	0
OR4K5	79317	broad.mit.edu	37	14	20388770	20388770	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:20388770A>G	ENST00000315915.4	+	1	30	c.5A>G	c.(4-6)gAt>gGt	p.D2G		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAACCATGGATAAGTCCAAT	0.353000													8	41					0	0	0.335167	0	0
AVPR1B	553	broad.mit.edu	37	1	206225115	206225115	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:206225115G>C	ENST00000367126.4	+	1	1140	c.675G>C	c.(673-675)gaG>gaC	p.E225D		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	225					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCTGCCATGAGATCTGTAAAA	0.607000													23	79					0	0	0.639603	0	0
CDH8	1006	broad.mit.edu	37	16	61935158	61935158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:61935158G>A	ENST00000577390.1	-	3	1426	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q158*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q158*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q158*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	158	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGATGTCTTGAACTTTAATA	0.433000													19	62					0	0	0.557998	0	0
SYNE1	23345	broad.mit.edu	37	6	152841605	152841605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152841605C>T	ENST00000367255.5	-	6	899	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E100K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E100K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E100K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E100K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E100K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E100K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E100K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E100K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	100	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E100K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTTCCTTCGAGGAACTTG	0.443000										HNSCC(10;0.0054)			40	137					0	0	0.859065	0	0
FLRT3	23767	broad.mit.edu	37	20	14306766	14306766	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:14306766C>G	ENST00000378053.3	-	2	1643	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.E463Q	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	463	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACCAAGTACTCACTGCGTTCC	0.468000													16	32					0	0	0.479597	0	0
SPINT1	6692	broad.mit.edu	37	15	41148218	41148218	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:41148218G>A	ENST00000344051.4	+	9	1528	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	SPINT1_ENST00000431806.1_Missense_Mutation_p.E416K|SPINT1_ENST00000562057.1_Missense_Mutation_p.E416K			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	432	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAACAACTTTGAGGAAGAGCA	0.577000													32	87					0	0	0.779181	0	0
BBS9	27241	broad.mit.edu	37	7	33388766	33388766	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:33388766C>T	ENST00000242067.6	+	13	1937	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	BBS9_ENST00000355070.2_Silent_p.F472F|BBS9_ENST00000354265.4_Silent_p.F472F|BBS9_ENST00000350941.3_Silent_p.F472F|BBS9_ENST00000396127.2_Silent_p.F472F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	472					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGATCAGTTCACCTTTGAAT	0.333000									Bardet-Biedl syndrome				14	76					0	0	0.479597	0	0
SETDB1	9869	broad.mit.edu	37	1	150915471	150915471	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:150915471C>G	ENST00000271640.5	+	7	1007	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	SETDB1_ENST00000368962.2_Missense_Mutation_p.Q273E|SETDB1_ENST00000368963.1_Intron|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q273E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	273	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGGGAATCAGGTCTGGCT	0.517000													24	75					0	0	0.667858	0	0
PTGER3	5733	broad.mit.edu	37	1	71478156	71478156	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:71478156C>G	ENST00000370924.4	-	2	1139	c.909G>C	c.(907-909)ttG>ttC	p.L303F	PTGER3_ENST00000370932.2_Missense_Mutation_p.L303F|PTGER3_ENST00000351052.5_Missense_Mutation_p.L303F|PTGER3_ENST00000370931.3_Missense_Mutation_p.L303F|PTGER3_ENST00000356595.4_Missense_Mutation_p.L303F|PTGER3_ENST00000414819.1_Missense_Mutation_p.L303F|PTGER3_ENST00000354608.5_Missense_Mutation_p.L303F|PTGER3_ENST00000306666.5_Missense_Mutation_p.L303F|PTGER3_ENST00000460330.1_Missense_Mutation_p.L303F	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	303					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	AGATCATTTTCAACATCATTA	0.383000													14	35					0	0	0.479597	0	0
PAIP1	10605	broad.mit.edu	37	5	43527498	43527498	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:43527498C>G	ENST00000306846.3	-	11	1652	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	PAIP1_ENST00000338972.4_Missense_Mutation_p.E362Q|PAIP1_ENST00000514514.1_3'UTR|PAIP1_ENST00000436644.2_Missense_Mutation_p.E395Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	474	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CGCTTACGCTCTGATTCCAAA	0.338000													8	79					0	0	0.278610	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120396	12120396	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:12120396C>G	ENST00000379388.2	+	4	700	c.368C>G	c.(367-369)tCa>tGa	p.S123*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	123					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)				GCTGAAGCCTCAAAATCTGAA	0.433000													25	54					0	0	0.667858	0	0
FLG2	388698	broad.mit.edu	37	1	152329438	152329438	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:152329438C>T	ENST00000388718.5	-	3	896	c.824G>A	c.(823-825)aGg>aAg	p.R275K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	275	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTTCGCCTCCCACTGTC	0.448000													93	26					0	0	0.870114	0	0
LARP1B	55132	broad.mit.edu	37	4	129043203	129043203	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:129043203C>T	ENST00000326639.6	+	11	1595	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.P462S|LARP1B_ENST00000264584.5_Missense_Mutation_p.P415S|LARP1B_ENST00000427266.1_Missense_Mutation_p.P462S|LARP1B_ENST00000441387.1_Missense_Mutation_p.P462S	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	462			P -> R (in dbSNP:rs12508837).				RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GAAAAAACATCCTGGAGGAGA	0.368000													41	38					0	0	0.834066	0	0
SPTBN4	57731	broad.mit.edu	37	19	41066348	41066348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:41066348G>A	ENST00000595535.1	+	27	6040	c.5954G>A	c.(5953-5955)tGg>tAg	p.W1985*	SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000352632.3_Intron|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.W661*|SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000392025.1_Intron			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	0					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			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCCCCTGGTGGCCTACC	0.632000													5	37					0	0	0.217242	0	0
ZNF100	163227	broad.mit.edu	37	19	21948580	21948580	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:21948580C>T	ENST00000358296.6	-	2	210	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTCCATACCTCGGGTCATCCT	0.483000													18	46					0	0	0.520397	0	0
AGR3	155465	broad.mit.edu	37	7	16902261	16902261	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:16902261G>A	ENST00000310398.2	-	4	269	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	AGR3_ENST00000402239.3_Missense_Mutation_p.H67Y	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	67						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCCTCCAGGTGATGAATAACC	0.284000													17	86					0	0	0.520397	0	0
CERKL	375298	broad.mit.edu	37	2	182468711	182468711	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:182468711G>T	ENST00000410087.3	-	2	434	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.Q112K|CERKL_ENST00000374970.2_Missense_Mutation_p.Q112K|CERKL_ENST00000374969.2_Missense_Mutation_p.Q112K|CERKL_ENST00000339098.5_Missense_Mutation_p.Q112K	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	112					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCACTTCTCTGCTGTTTAACA	0.318000													17	11					1.5739e-10	1.68435e-10	0.500413	1	0
BMPR1B	658	broad.mit.edu	37	4	96046186	96046186	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:96046186G>C	ENST00000515059.1	+	8	782	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	BMPR1B_ENST00000440890.2_Missense_Mutation_p.E197Q|BMPR1B_ENST00000394931.1_Missense_Mutation_p.E167Q|BMPR1B_ENST00000264568.4_Missense_Mutation_p.E167Q	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	167					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGAACAGGATGAAACTTACAT	0.408000													10	21					0	0	0.387290	0	0
CENPF	1063	broad.mit.edu	37	1	214816003	214816003	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:214816003C>T	ENST00000366955.3	+	12	4490	c.4322C>T	c.(4321-4323)tCa>tTa	p.S1441L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1537	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TATGTTGACTCATTAAAGGCC	0.423000													12	38					0	0	0.411799	0	0
SEMA4D	10507	broad.mit.edu	37	9	92003801	92003801	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:92003801G>A	ENST00000450295.1	-	10	1712	c.936C>T	c.(934-936)ctC>ctT	p.L312L	SEMA4D_ENST00000438547.2_Silent_p.L312L|SEMA4D_ENST00000356444.2_Silent_p.L312L|SEMA4D_ENST00000343780.4_Silent_p.L312L|SEMA4D_ENST00000455551.2_Silent_p.L312L|SEMA4D_ENST00000420987.1_Silent_p.L312L|SEMA4D_ENST00000339861.4_Silent_p.L312L|SEMA4D_ENST00000422704.2_Silent_p.L312L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	312	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GTGGGGTGAAGAGTGCATAGA	0.617000													26	95					0	0	0.681144	0	0
EYA3	2140	broad.mit.edu	37	1	28374933	28374933	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:28374933T>C	ENST00000373871.3	-	3	278	c.38A>G	c.(37-39)aAa>aGa	p.K13R	EYA3_ENST00000373863.3_Missense_Mutation_p.K13R|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.K13R|EYA3_ENST00000436342.2_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	13					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGGCTTTTTTCACCTGCAA	0.289000													8	25					0	0	0.335167	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007497	6007497	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:6007497G>A	ENST00000399933.3	-	1	290	c.291C>T	c.(289-291)ctC>ctT	p.L97L	KIAA2026_ENST00000381461.2_Silent_p.L97L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	97										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGGGGCGGTGAGGCCCCGGT	0.716000													11	60					0	0	0.435327	0	0
MME	4311	broad.mit.edu	37	3	154834751	154834751	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:154834751G>A	ENST00000460393.1	+	7	750	c.630G>A	c.(628-630)aaG>aaA	p.K210K	MME_ENST00000493237.1_Silent_p.K210K|MME_ENST00000360490.2_Silent_p.K210K|MME_ENST00000462745.1_Silent_p.K210K|MME_ENST00000492661.1_Silent_p.K210K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	210					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTGATGATAAGAATTCTGTGA	0.299000													7	29					0	0	0.278610	0	0
MYO10	4651	broad.mit.edu	37	5	16676206	16676206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:16676206G>A	ENST00000513610.1	-	34	5054	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	MYO10_ENST00000427430.2_Nonsense_Mutation_p.R891*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.R873*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R873*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R891*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1534					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGGTGTATCGAAGGATCGGG	0.493000													19	141					0	0	0.575678	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(1)		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)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome				24	303					0	0	0.639603	0	0
ALAD	210	broad.mit.edu	37	9	116152945	116152945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:116152945C>T	ENST00000409155.3	-	6	605	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ALAD_ENST00000277315.5_Missense_Mutation_p.E120K	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	137					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCTCCGTTTTCACTCAGGAGC	0.622000													9	19					0	0	0.361761	0	0
RBM26	64062	broad.mit.edu	37	13	79911235	79911235	+	Splice_Site	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:79911235A>G	ENST00000438737.2	-	19	3174		c.e19+1		RBM26_ENST00000438724.1_Splice_Site|RBM26_ENST00000267229.7_Splice_Site			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26						mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTAAGAAAGTACCGCAAAATG	0.413000													9	3					0	0	0.335167	0	0
DBP	1628	broad.mit.edu	37	19	49140149	49140149	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49140149G>A	ENST00000222122.5	-	1	546	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	DBP_ENST00000601104.1_Silent_p.L35L	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	35					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GTCCCCTGCAGAAGGCTCCGC	0.701000													3	10					0	0	0.115264	0	0
CNTN4	152330	broad.mit.edu	37	3	3067795	3067795	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:3067795G>A	ENST00000397461.1	+	14	1880	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	CNTN4_ENST00000427331.1_Missense_Mutation_p.R499K|CNTN4_ENST00000397459.2_Missense_Mutation_p.R171K|CNTN4_ENST00000448906.2_Missense_Mutation_p.R171K|CNTN4_ENST00000358480.3_Missense_Mutation_p.R280K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R499K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	499	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATCCAACAAGGGTAATGGTA	0.418000													5	11					0	0	0.278610	0	0
LPAR4	2846	broad.mit.edu	37	X	78010388	78010388	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:78010388G>A	ENST00000435339.2	+	2	427	c.22G>A	c.(22-24)Gac>Aac	p.D8N	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Missense_Mutation_p.D8N	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	8						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AAGATTCATTGACTTCCAATT	0.438000													14	23					0	0	0.479597	0	0
RNF10	9921	broad.mit.edu	37	12	120995384	120995384	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:120995384G>A	ENST00000325954.4	+	6	1327	c.866G>A	c.(865-867)gGt>gAt	p.G289D	RNF10_ENST00000413266.2_Missense_Mutation_p.G289D	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	289					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGTTGTTGGTGATACCATT	0.448000													31	109					0	0	0.760397	0	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55890553G>C	ENST00000313472.3	+	1	705	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413000													19	117					0	0	0.575678	0	0
MTUS2	23281	broad.mit.edu	37	13	29599371	29599371	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:29599371G>C	ENST00000431530.3	+	1	624	c.566G>C	c.(565-567)aGa>aCa	p.R189T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	179						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R189K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTTGGAAAGAGCAAGCAGC	0.547000													22	42					0	0	0.608945	0	0
RELN	5649	broad.mit.edu	37	7	103155675	103155675	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:103155675G>A	ENST00000424685.2	-	50	8235	c.8076C>T	c.(8074-8076)gtC>gtT	p.V2692V	RELN_ENST00000428762.1_Silent_p.V2692V|RELN_ENST00000343529.5_Silent_p.V2692V			P78509	RELN_HUMAN	reelin	2692					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			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGATCCTCCCGACAGGGCCGG	0.517000													6	39					0	0	0.217242	0	0
MTERF	7978	broad.mit.edu	37	7	91503289	91503289	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:91503289C>G	ENST00000419292.1	-	2	835	c.759G>C	c.(757-759)ctG>ctC	p.L253L	CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000406735.2_Silent_p.L253L|MTERF_ENST00000351870.3_Silent_p.L273L			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	273					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GACCACATATCAGAACCAGCA	0.413000													10	46					0	0	0.335167	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610791	83610791	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:83610791G>T	ENST00000265362.3	-	14	1812	c.1498C>A	c.(1498-1500)Caa>Aaa	p.Q500K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.Q500K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	500	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATATATAGTTGTTGCTGTGGA	0.418000													4	9					2.56e-06	2.69241e-06	0.150653	1	0
SRF	6722	broad.mit.edu	37	6	43144380	43144380	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:43144380C>T	ENST00000265354.4	+	4	1495	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	SRF_ENST00000457278.2_Silent_p.L175L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	379					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			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCACAGACCTCACGCAGACCT	0.647000													18	81					0	0	0.575678	0	0
KCNA4	3739	broad.mit.edu	37	11	30034073	30034073	+	Silent	SNP	G	G	C	rs60942363		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:30034073G>C	ENST00000328224.6	-	2	1386	c.153C>G	c.(151-153)gtC>gtG	p.V51V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	51						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CGCTACCTTCGACAGCAGCTG	0.677000													14	16					0	0	0.654019	0	0
KL	9365	broad.mit.edu	37	13	33638296	33638296	+	Silent	SNP	G	G	A	rs139874106		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:33638296G>A	ENST00000380099.3	+	5	3020	c.3012G>A	c.(3010-3012)tcG>tcA	p.S1004S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	1004					aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTACTACTCGAAGAAAGGCA	0.333000													9	14					0	0	0.335167	0	0
FOXD2	2306	broad.mit.edu	37	1	47904276	47904276	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:47904276A>G	ENST00000334793.5	+	1	2588	c.469A>G	c.(469-471)Atc>Gtc	p.I157V		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	157					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CTGCGAGTTCATCAGCGGCCG	0.617000													21	45					0	0	0.592651	0	0
DNAH7	56171	broad.mit.edu	37	2	196729233	196729233	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:196729233C>G	ENST00000312428.6	-	41	7246	c.7146G>C	c.(7144-7146)gtG>gtC	p.V2382V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2382	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCTTAAGATCACTTTTAAAT	0.398000													16	71					0	0	0.520397	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466638	57466638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:57466638C>T	ENST00000287169.3	+	11	3092	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S524L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	577						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ACACCAGGCTCGGGCCATGCC	0.597000													34	144					0	0	0.769981	0	0
VARS	7407	broad.mit.edu	37	6	31759748	31759748	+	Splice_Site	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:31759748T>G	ENST00000375663.3	-	7	1312	c.871_splice	c.e7-1	p.D291_splice	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	291					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCACTGACATCTGGGGGAGA	0.622000													3	6					0	0	0.115264	0	0
CTLA4	1493	broad.mit.edu	37	2	204732684	204732684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:204732684C>T	ENST00000302823.3	+	1	176	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Nonsense_Mutation_p.Q7*|CTLA4_ENST00000295854.6_Nonsense_Mutation_p.Q7*	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	7					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CCTTGGATTTCAGCGGCACAA	0.498000													14	18					0	0	0.435327	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403762	85403762	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:85403762G>C	ENST00000370608.3	-	10	1181	c.1114C>G	c.(1114-1116)Ctc>Gtc	p.L372V	MCOLN2_ENST00000284027.5_Missense_Mutation_p.L344V|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	372						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TAGTTTGTGAGATTCTAAGGA	0.338000													23	26					0	0	0.639603	0	0
SNX29	92017	broad.mit.edu	37	16	12145835	12145835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:12145835G>A	ENST00000566228.1	+	8	949	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	266	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGCTCAGAGGACAACTCCGA	0.483000													15	52					0	0	0.479597	0	0
MBP	4155	broad.mit.edu	37	18	74729142	74729142	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:74729142C>G	ENST00000397860.3	-	4	436	c.222G>C	c.(220-222)aaG>aaC	p.K74N	MBP_ENST00000354542.4_5'UTR|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000580402.1_Missense_Mutation_p.K74N|MBP_ENST00000355994.2_Missense_Mutation_p.K74N|MBP_ENST00000579129.1_Missense_Mutation_p.K74N|MBP_ENST00000397863.1_Missense_Mutation_p.K74N	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	74					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GCCAGGCATTCTTCGGGTCCG	0.607000													20	9					0	0	0.592651	0	0
CNTN3	5067	broad.mit.edu	37	3	74535745	74535745	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:74535745C>T	ENST00000263665.6	-	3	247	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	74	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TAACGATGTTCCATACTCATA	0.363000													16	32					0	0	0.520397	0	0
TOP1MT	116447	broad.mit.edu	37	8	144413487	144413487	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:144413487C>T	ENST00000329245.4	-	2	179	c.145G>A	c.(145-147)Gac>Aac	p.D49N	TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	49					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TTCACCCCGTCTTCGTGCTTC	0.607000													35	17					0	0	0.819951	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851748	14851748	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:14851748G>C	ENST00000358984.4	+	36	3628	c.3448G>C	c.(3448-3450)Gtt>Ctt	p.V1150L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1235										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCAGCTTAAAGTTCTGACGGC	0.373000													12	10					0	0	0.411799	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455427	4455427	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:4455427G>A	ENST00000254718.4	-	7	1204	c.898C>T	c.(898-900)Cca>Tca	p.P300S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P300S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	300	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACCTGGCTGGCCAGAACTGC	0.627000													4	69					0	0	0.150653	0	0
ZNF112	7665	broad.mit.edu	37	19	44831903	44831903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:44831903G>A	ENST00000354340.4	-	4	2458	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*	ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q826*|ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q809*	NM_013380.3	NP_037512.3			zinc finger protein 112																		TTACCACACTGTTCACATTTA	0.458000													37	100					0	0	0.796494	0	0
TTN	7273	broad.mit.edu	37	2	179599449	179599449	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:179599449C>T	ENST00000589042.1	-	51	15426	c.15202G>A	c.(15202-15204)Gaa>Aaa	p.E5068K	TTN_ENST00000591111.1_Missense_Mutation_p.E4751K|TTN_ENST00000342992.6_Missense_Mutation_p.E3824K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4751	Ig-like 31.						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)			ATAACTATTTCAGTACTGCAG	0.363000													19	80					0	0	0.608945	0	0
SP100	6672	broad.mit.edu	37	2	231368918	231368918	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:231368918G>C	ENST00000264052.5	+	21	2138	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	SP100_ENST00000409112.1_Missense_Mutation_p.D595H|SP100_ENST00000340126.4_Missense_Mutation_p.D595H	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	595	SAND.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|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	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA 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)		AATTCCCAAAGATGAAAATAT	0.403000													20	50					0	0	0.575678	0	0
SLC30A4	7782	broad.mit.edu	37	15	45778943	45778943	+	Splice_Site	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:45778943C>G	ENST00000261867.4	-	7	1315	c.1000_splice	c.e7-1	p.G334_splice	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	334					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GCTTGGCACACCTATTAGGAA	0.294000													41	167					0	0	0.834066	0	0
FBLL1	345630	broad.mit.edu	37	5	167957016	167957016	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:167957016C>T	ENST00000338333.4	+	1	896	c.507C>T	c.(505-507)atC>atT	p.I169I																								AGATCCACATCAAGCCCAAGT	0.672000													8	1					0	0	0.307466	0	0
ZNF16	7564	broad.mit.edu	37	8	146157372	146157372	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:146157372G>A	ENST00000276816.4	-	4	987	c.801C>T	c.(799-801)tgC>tgT	p.C267C	ZNF16_ENST00000394909.2_Silent_p.C267C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CACATTCGCTGCACTGGTAAG	0.453000													4	94					0	0	0.150653	0	0
KRT34	3885	broad.mit.edu	37	17	39538614	39538614	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:39538614G>A	ENST00000394001.1	-	1	41	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	4	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGGGGGCTTGGCATACAGCAT	0.433000													16	15					0	0	0.500413	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907263	7907263	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7907263C>T	ENST00000254854.4	+	3	965	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	272					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)				ACCGATGGCTCCCTGGTCTTC	0.672000													29	96					0	0	0.729181	0	0
CYP2J2	1573	broad.mit.edu	37	1	60381745	60381746	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:60381745_60381746insA	ENST00000371204.3	-	2	280_281	c.237_238insT	c.(235-240)ttgcttfs	p.LL79fs		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	79					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	p.S80G(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AGCTCCAAGCTAAAAAGGTTCC	0.411													21	65	---	---	---	---					
DANCR	57291	broad.mit.edu	37	4	53579545	53579546	+	RNA	DEL	AA	AA	-			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:53579545_53579546delAA	ENST00000411630.2	+	0	234					NR_024031.1																						ACTGAACCAGAAAAAGTTTCGT	0.376													21	71	---	---	---	---					
JADE2	23338	broad.mit.edu	37	5	133895609	133895610	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:133895609_133895610insC	ENST00000395003.1	+	5	580_581	c.401_402insC	c.(400-402)gagfs	p.E134fs	PHF15_ENST00000282605.4_Frame_Shift_Ins_p.E134fs|PHF15_ENST00000402835.1_Frame_Shift_Ins_p.E134fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.E134fs	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		134					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGCCAGGGGGCAGCCGCTATG	0.579													7	38	---	---	---	---					
CTC-338M12.4	101928649	broad.mit.edu	37	5	180699084	180699085	+	RNA	INS	-	-	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:180699084_180699085insA	ENST00000511331.1	+	0	916_917				CTC-338M12.3_ENST00000507434.1_RNA																							GGCTTTCCATCAGAAAAAAAAA	0.411													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													5	1	---	---	---	---					
KRTAP5-3	387266	broad.mit.edu	37	11	1629017	1629046	+	In_Frame_Del	DEL	CAGCAGCTGGACTGGGAACAGCAGGGTTTG	CAGCAGCTGGACTGGGAACAGCAGGGTTTG	-	rs144204766	by1000genomes	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1629017_1629046delCAGCAGCTGGACTGGGAACAGCAGGGTTTG	ENST00000399685.1	-	1	647_676	c.570_599delCAAACCCTGCTGTTCCCAGTCCAGCTGCTG	c.(568-600)tgt>tg	p.CKPCCSQSSCC190del		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	190	11 X 4 AA repeats of C-C-X-P.					keratin filament		p.Q196Q(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		gcagggcttacagcagctggactgggaacagcagggtttgcagcagctgg	0.617													8	260	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													10	17	---	---	---	---					
LRTM2	654429	broad.mit.edu	37	12	1940353	1940354	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:1940353_1940354insG	ENST00000543818.1	+	4	1162_1163	c.320_321insG	c.(319-321)cccfs	p.P107fs	LRTM2_ENST00000535041.1_Frame_Shift_Ins_p.P107fs|LRTM2_ENST00000299194.1_Frame_Shift_Ins_p.P107fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	107						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGGACCGGCTGCCCCGCTCCA	0.599													9	99	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49436553	49436559	+	Frame_Shift_Del	DEL	CGGCTGC	CGGCTGC	-			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:49436553_49436559delCGGCTGC	ENST00000301067.7	-	26	5746_5752	c.5747_5753delGCAGCCG	c.(5746-5754)gtfs	p.GSR1916fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R1648C(1)|p.G1646G(1)|p.S1647G(1)|p.R1918C(1)|p.G1916G(1)|p.S1917G(1)									CAGTGGCGTACGGCTGCCTTCTAGGCC	0.546													27	83	---	---	---	---					
OR6C74	254783	broad.mit.edu	37	12	55641287	55641287	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:55641287delA	ENST00000343870.4	+	1	306	c.216delA	c.(214-216)acfs	p.T73fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTCATTCACAACTGTCTACA	0.393													61	189	---	---	---	---					
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs112427980	by1000genomes	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55																											TGACTCTTTTTTAAAAAAACAG	0.450													3	4	---	---	---	---					
PDCD7	10081	broad.mit.edu	37	15	65426079	65426079	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:65426079delG	ENST00000204549.4	-	1	95	c.41delC	c.(40-42)cafs	p.P17fs		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	17	Pro-rich.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CGGGGGCGGTGGGCCTGGGCG	0.692													2	4	---	---	---	---					
ISLR2	57611	broad.mit.edu	37	15	74427263	74427264	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:74427263_74427264insG	ENST00000361742.3	+	4	2937_2938	c.2168_2169insG	c.(2167-2169)cccfs	p.P723fs	ISLR2_ENST00000419208.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000565540.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000565159.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000445793.1_Frame_Shift_Ins_p.P723fs|ISLR2_ENST00000435464.1_Frame_Shift_Ins_p.P723fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	723					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AGCGATCGGCTGCCCCTGGGCG	0.658											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	69	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578234	7578235	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7578234_7578235insT	ENST00000420246.2	-	6	746_747	c.614_615insA	c.(613-615)tttfs	p.F205fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.F205fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.F205fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.F205fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.F205fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.F205fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y205*(4)|p.Y112S(1)|p.Y73S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTCATCCAAATACTCCACACG	0.540		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	21	---	---	---	---					
SPAG4	6676	broad.mit.edu	37	20	34207645	34207646	+	Frame_Shift_Ins	INS	-	-	C	rs76103999		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:34207645_34207646insC	ENST00000374273.3	+	10	1166_1167	c.1054_1055insC	c.(1054-1056)cccfs	p.P352fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	352	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCCAACAGCGCCCCCCGCGAT	0.624													12	61	---	---	---	---					
