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
EMD	2010	broad.mit.edu	37	X	153608325	153608325	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153608325G>T	ENST00000369842.4	+	3	499	c.211G>T	c.(211-213)Gca>Tca	p.A71S	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Missense_Mutation_p.A36S	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	71	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGAGGGGATGCAGATATGTA	0.552000													26	235					3.08376e-08	4.73803e-08	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156882353	156882353	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:156882353C>T	ENST00000338302.3	+	18	2373	c.2148C>T	c.(2146-2148)tgC>tgT	p.C716C	PEAR1_ENST00000292357.7_Silent_p.C716C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	716						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGAAAAGTGCCACCCAGAGA	0.612000													28	65					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46544032	46544032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:46544032C>A	ENST00000242848.4	-	14	2995	c.2647G>T	c.(2647-2649)Gaa>Taa	p.E883*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.E883*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	883							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGTCTGTCTTCTGTGAGGTGC	0.428000													18	131					9.16793e-09	1.45967e-08	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11008532	11008532	+	Missense_Mutation	SNP	C	C	T	rs147030030	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:11008532C>T	ENST00000377004.4	-	12	1659	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T	C1orf127_ENST00000377008.4_Missense_Mutation_p.A387T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	405										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGAGACTTGGCGGGGTCCTGT	0.617000													4	49					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020269	56020269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:56020269C>A	ENST00000303059.3	+	1	594	c.594C>A	c.(592-594)ttC>ttA	p.F198L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCCTGTCCTTCTGTGGATCCA	0.433000													16	127					1.3612e-06	1.93357e-06	1	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153277435	153277435	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:153277435C>T	ENST00000290722.1	-	3	416	c.364G>A	c.(364-366)Ggc>Agc	p.G122S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	122					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTTATTGCCAAAGAAGGCG	0.527000													5	36					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178210	39178210	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:39178210C>G	ENST00000297668.6	-	5	759	c.686G>C	c.(685-687)gGa>gCa	p.G229A	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G229A|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G229A|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G229A|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G141A|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	229	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AATGTGATTTCCATGTTGTCC	0.289000													7	31					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761181	155761181	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:155761181C>T	ENST00000159060.2	-	6	679	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	193	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGATGAACTCAGTTGACGAG	0.473000													6	29					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43772242	43772242	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:43772242G>T	ENST00000244293.7	-	2	190	c.124C>A	c.(124-126)Cca>Aca	p.P42T	PSG9_ENST00000270077.3_Missense_Mutation_p.P42T|PSG9_ENST00000596730.1_Missense_Mutation_p.P42T|PSG9_ENST00000291752.5_Missense_Mutation_p.P42T|PSG9_ENST00000443718.3_Missense_Mutation_p.P42T|PSG9_ENST00000418820.2_Missense_Mutation_p.P42T|PSG9_ENST00000593948.1_Missense_Mutation_p.P42T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	42	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ACTTTGGGTGGCTGGGCTTCA	0.493000													24	126					1.96895e-08	3.05187e-08	1	1	0
TSHR	7253	broad.mit.edu	37	14	81609477	81609477	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:81609477C>A	ENST00000541158.2	+	11	1397	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.Q359K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	359					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTTTGAAGAACAAGAGGATGA	0.428000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						7	54					0.000157383	0.000196078	1	1	0
SULF2	55959	broad.mit.edu	37	20	46307511	46307511	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:46307511T>A	ENST00000359930.4	-	8	1953	c.1102A>T	c.(1102-1104)Acc>Tcc	p.T368S	SULF2_ENST00000361612.4_Missense_Mutation_p.T368S|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Missense_Mutation_p.T368S|SULF2_ENST00000484875.1_Missense_Mutation_p.T368S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	368					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCAGGATGGTGGGGGCCAGG	0.622000													45	101					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769822	31769822	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:31769822G>A	ENST00000240587.4	-	2	1204	c.877C>T	c.(877-879)Cat>Tat	p.H293Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	293					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGATCATATGGACACTCAAA	0.512000													18	124					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744258	25744258	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:25744258G>A	ENST00000357816.2	-	3	1618	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	AMER2_ENST00000515384.1_Silent_p.P500P|AMER2_ENST00000381853.3_Silent_p.P381P					APC membrane recruitment protein 2																		CCTTAGGATGGGGCTCGATGG	0.657000													8	92					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306788	140306788	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:140306788C>T	ENST00000253807.2	+	1	311	c.311C>T	c.(310-312)cCg>cTg	p.P104L	PCDHAC1_ENST00000409700.3_Missense_Mutation_p.P104L|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGAGGACCCGCTGGAGCTG	0.617000													9	69					0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66757707	66757707	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:66757707G>A	ENST00000258198.2	-	13	1603	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.S389L|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	466					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTGAACATTTGACAACACAGT	0.328000													4	15					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122911529	122911529	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:122911529A>T	ENST00000395412.1	+	6	1264	c.545A>T	c.(544-546)cAc>cTc	p.H182L	CSNK1G3_ENST00000395411.1_Missense_Mutation_p.H182L|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.H182L|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.H107L|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.H182L|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.H69L|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.H182L|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.H182L|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.H182L	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	182	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CAAGTTATTCACATTATAGAT	0.373000													6	31					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057968	152057968	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:152057968G>T	ENST00000368806.1	-	3	2254	c.2190C>A	c.(2188-2190)gcC>gcA	p.A730A		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	730							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTTGAGGGAGGCTGAATTGT	0.448000													15	92					7.93312e-07	1.13917e-06	1	1	0
CRISPLD2	83716	broad.mit.edu	37	16	84940227	84940227	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:84940227G>T	ENST00000262424.5	+	15	1697	c.1473G>T	c.(1471-1473)cgG>cgT	p.R491R	CRISPLD2_ENST00000567845.1_Silent_p.R490R	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	491						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGGCCTTCCGGATCTTTGCTG	0.537000													15	79					1.45105e-14	2.72137e-14	1	1	0
PPP2R1A	5518	broad.mit.edu	37	19	52719115	52719115	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:52719115G>T	ENST00000322088.6	+	7	949	c.891G>T	c.(889-891)gaG>gaT	p.E297D	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E242D|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E118D	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	297	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GTGAGGCCGAGGTGAGGGCCG	0.597000			Mis		clear cell ovarian carcinoma								5	56					0.184627	0.188198	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100108601	100108601	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:100108601C>G	ENST00000395996.1	+	4	464	c.353C>G	c.(352-354)tCa>tGa	p.S118*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.S118*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.S118*|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.S118*|VPS13B_ENST00000358544.2_Nonsense_Mutation_p.S118*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	118					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCACAAAATCATCAATCAAA	0.378000													3	32					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125299914	125299914	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:125299914G>T	ENST00000298282.9	+	12	1340	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.D293Y	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	357						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGCAACCCAGATCCTGCCCC	0.602000													17	177					2.72e-22	5.34866e-22	1	1	0
SLC30A8	169026	broad.mit.edu	37	8	118159275	118159275	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:118159275C>A	ENST00000427715.2	+	5	441	c.7C>A	c.(7-9)Cac>Aac	p.H3N	SLC30A8_ENST00000521243.1_Missense_Mutation_p.H3N|SLC30A8_ENST00000519688.1_Missense_Mutation_p.H3N|SLC30A8_ENST00000456015.2_Missense_Mutation_p.H52N	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	52					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGGCATGTACCACTGCCACAG	0.493000													9	61					0.00448238	0.00503671	1	1	0
FTMT	94033	broad.mit.edu	37	5	121188090	121188090	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:121188090C>A	ENST00000321339.1	+	1	441	c.432C>A	c.(430-432)gaC>gaA	p.D144E		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	144	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCCTGCAGGACATCAAGAAGC	0.582000													9	106					0.000442599	0.000530113	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7050898	7050898	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:7050898T>A	ENST00000389658.3	-	4	476	c.383A>T	c.(382-384)aAt>aTt	p.N128I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	128	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGAGGGGCATTGGCAGCTTT	0.468000													5	32					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128046313	128046313	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:128046313C>G	ENST00000493187.2	-	7	1221	c.758G>C	c.(757-759)aGa>aCa	p.R253T	ERCC3_ENST00000285398.2_Missense_Mutation_p.R317T			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	317					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTGATAGGGTCTGAGGACAGC	0.498000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				52	332					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52549173	52549173	+	Silent	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:52549173T>A	ENST00000242839.4	-	2	339	c.183A>T	c.(181-183)acA>acT	p.T61T	ATP7B_ENST00000400370.3_Silent_p.T61T|ATP7B_ENST00000400366.3_Silent_p.T61T|ATP7B_ENST00000344297.5_Silent_p.T61T|ATP7B_ENST00000448424.2_Silent_p.T61T|ATP7B_ENST00000542656.1_Silent_p.T29T|ATP7B_ENST00000418097.2_Silent_p.T61T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	61	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGATCCTGACTGTGCTGGTGG	0.498000									Wilson disease				6	45					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92507263	92507263	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:92507263G>C	ENST00000298047.6	+	6	4269	c.4252G>C	c.(4252-4254)Gca>Cca	p.A1418P	FAT3_ENST00000409404.2_Missense_Mutation_p.A1418P|FAT3_ENST00000525166.1_Missense_Mutation_p.A1268P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1418	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1418S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATTGTCATCGCAAAACCTTT	0.413000										TCGA Ovarian(4;0.039)			6	25					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159210	39159210	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:39159210C>A	ENST00000359534.3	-	5	1294	c.956G>T	c.(955-957)gGg>gTg	p.G319V		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	319					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCCGTCTCCCCACCCCCGCT	0.612000													26	147					1.42536e-11	2.52917e-11	1	1	0
P2RY10	27334	broad.mit.edu	37	X	78216154	78216154	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:78216154T>A	ENST00000171757.2	+	4	417	c.137T>A	c.(136-138)aTt>aAt	p.I46N	P2RY10_ENST00000544091.1_Missense_Mutation_p.I46N|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	46						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTCATATTCATTCCTGGTCTT	0.428000													14	77					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251573	160251573	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:160251573A>T	ENST00000264431.4	+	7	1326	c.907A>T	c.(907-909)Agg>Tgg	p.R303W		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	303	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTGACCTATAGGACTTTTCT	0.388000													3	42					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45411538	45411538	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr15:45411538C>A	ENST00000558996.1	-	6	717	c.663G>T	c.(661-663)ctG>ctT	p.L221L	DUOXA1_ENST00000267803.4_Silent_p.L266L|DUOXA1_ENST00000558422.1_Silent_p.L221L|DUOXA1_ENST00000430224.2_Silent_p.L221L|DUOXA1_ENST00000559014.1_Silent_p.L266L|DUOXA1_ENST00000560572.1_Silent_p.L266L	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	266					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CCGCCATAGCCAGGCCCAGCA	0.572000													4	31					1	1	1	1	0
GK2	2712	broad.mit.edu	37	4	80328020	80328020	+	Silent	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:80328020T>A	ENST00000358842.3	-	1	1352	c.1335A>T	c.(1333-1335)ccA>ccT	p.P445P		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	445					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTTTTATTACTGGAATATGAA	0.473000													11	63					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243362481	243362481	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:243362481G>A	ENST00000366542.1	-	7	563	c.512C>T	c.(511-513)cCc>cTc	p.P171L	CEP170_ENST00000366544.1_Missense_Mutation_p.P171L|CEP170_ENST00000366543.1_Missense_Mutation_p.P171L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	171						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)			AGTACCACGGGGCATAGCAGA	0.433000													3	19					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108483931	108483931	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:108483931G>T	ENST00000374688.1	+	3	931	c.221G>T	c.(220-222)gGt>gTt	p.G74V	TMEM38B_ENST00000374692.3_Missense_Mutation_p.G128V			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	128						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AAAATAGTAGGTGGAGTCACA	0.413000													6	21					0.0215528	0.0229925	1	1	0
HCK	3055	broad.mit.edu	37	20	30659556	30659556	+	Missense_Mutation	SNP	G	G	T	rs146996549		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:30659556G>T	ENST00000534862.1	+	3	457	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	HCK_ENST00000375862.2_Missense_Mutation_p.V52L|HCK_ENST00000518730.1_Missense_Mutation_p.V31L|HCK_ENST00000538448.1_Missense_Mutation_p.V31L|HCK_ENST00000520553.1_Missense_Mutation_p.V31L|HCK_ENST00000375852.2_Missense_Mutation_p.V52L	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	52					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTGTGTACGTGCCGGATCC	0.582000													7	56					2.7689e-08	4.2792e-08	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503564	140503564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:140503564G>T	ENST00000194152.1	+	1	1984	c.1984G>T	c.(1984-1986)Gtg>Ttg	p.V662L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGCTCCTGGTGGATGGCTT	0.697000													26	155					6.12954e-19	1.18325e-18	1	1	0
FBXL20	84961	broad.mit.edu	37	17	37455265	37455265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:37455265C>A	ENST00000264658.6	-	5	567	c.307G>T	c.(307-309)Gga>Tga	p.G103*	FBXL20_ENST00000583610.1_Nonsense_Mutation_p.G103*|FBXL20_ENST00000394294.3_Nonsense_Mutation_p.G103*|FBXL20_ENST00000577399.1_Nonsense_Mutation_p.G105*	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	103						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCTCCCACTCCAAGACATCCA	0.403000													7	30					3.09899e-07	4.58754e-07	1	1	0
IFNG	3458	broad.mit.edu	37	12	68551692	68551692	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:68551692C>A	ENST00000229135.3	-	3	498		c.e3+1		IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma						cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AATAGCCTCACCGAATAATTA	0.368000													6	39					2.0095e-06	2.77954e-06	1	1	0
AXIN1	8312	broad.mit.edu	37	16	338152	338152	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:338152C>T	ENST00000262320.3	-	11	2930	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K	AXIN1_ENST00000354866.3_Silent_p.K817K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	853	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCCGATGATCTTCTCCTCAA	0.602000													27	178					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040745	88040745	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:88040745G>A	ENST00000319595.4	+	1	900	c.846G>A	c.(844-846)aaG>aaA	p.K282K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	282					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAAGGCAAAAGATCTCAGGTA	0.388000													3	26					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842192	52842192	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:52842192C>T	ENST00000449956.2	+	21	2504	c.2498C>T	c.(2497-2499)cCa>cTa	p.P833L	ITIH3_ENST00000416872.2_Missense_Mutation_p.P641L	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	833					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCCACAAAGCCAGATGCCACA	0.522000													7	48					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849637	189849637	+	Silent	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:189849637A>T	ENST00000304636.3	+	2	401	c.231A>T	c.(229-231)ccA>ccT	p.P77P	COL3A1_ENST00000317840.5_Silent_p.P77P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	77	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCCCCAACCCAGAAATTCCAT	0.418000													8	42					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155288705	155288705	+	Missense_Mutation	SNP	G	G	C	rs142406806		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:155288705G>C	ENST00000356657.6	+	8	994	c.832G>C	c.(832-834)Gca>Cca	p.A278P	FDPS_ENST00000368356.4_Missense_Mutation_p.A278P|FDPS_ENST00000447866.1_Missense_Mutation_p.A212P|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	278					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TCCTATAGCTGCAGCCATGTA	0.493000													13	82					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907325	11907325	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:11907325G>A	ENST00000376480.3	-	2	393	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	NPPA_ENST00000376476.1_Missense_Mutation_p.R49W|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	99					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGCCCCGCCCGAGGGCA	0.672000													16	98					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9520196	9520196	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:9520196G>T	ENST00000378429.3	-	11	2619	c.2073C>A	c.(2071-2073)gcC>gcA	p.A691A	PAK7_ENST00000378423.1_Silent_p.A691A|PAK7_ENST00000353224.5_Silent_p.A691A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	691	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAGTTCCTGGGCTGTTGCTC	0.512000													11	121					1.08611e-07	1.63071e-07	1	1	0
CASP9	842	broad.mit.edu	37	1	15833410	15833410	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:15833410C>A	ENST00000546424.1	-	4	858	c.614G>T	c.(613-615)gGc>gTc	p.G205V	CASP9_ENST00000375890.4_Missense_Mutation_p.G122V|CASP9_ENST00000348549.5_Intron|CASP9_ENST00000333868.5_Missense_Mutation_p.G205V			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	205					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGTCAGGTCGCCCTTCACCTC	0.597000													21	95					0.0558828	0.0586658	1	1	0
LURAP1	541468	broad.mit.edu	37	1	46685388	46685388	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:46685388C>A	ENST00000371980.3	+	2	309	c.216C>A	c.(214-216)atC>atA	p.I72I	POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN	leucine rich adaptor protein 1	72					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm											TGCGAGCCATCGATGTGAAGA	0.587000													10	84					0.0692343	0.0725377	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35989828	35989828	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:35989828C>T	ENST00000297866.5	+	12	2162	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	699										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAATTAGAGCGAATCGATTG	0.448000													4	26					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693338	94693338	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:94693338C>G	ENST00000282020.4	+	16	2971	c.2713C>G	c.(2713-2715)Ctg>Gtg	p.L905V	GRID2_ENST00000510992.1_Missense_Mutation_p.L810V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	905					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTGACCCCTCTGGACATTGA	0.458000													6	93					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651233	96651233	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:96651233G>C	ENST00000302103.5	+	3	528	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	68					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TACTATTCTGGTGTGGGTGTG	0.438000													6	41					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121479	18121479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:18121479G>T	ENST00000222250.4	+	7	1254	c.1111G>T	c.(1111-1113)Ggc>Tgc	p.G371C	ARRDC2_ENST00000379656.2_Missense_Mutation_p.G366C	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	371										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GAGCCTTGAAGGCCCGTTCTT	0.637000													13	78					5.50884e-06	7.40601e-06	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70079956	70079956	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:70079956G>A	ENST00000446444.1	-	1	493	c.485C>T	c.(484-486)gCg>gTg	p.A162V	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	162					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A162V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTTAAGTAGCGCAGCCAGCAG	0.423000													13	78					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100229455	100229455	+	Missense_Mutation	SNP	A	A	T	rs6943717		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:100229455A>T	ENST00000462107.1	-	9	1367	c.1080T>A	c.(1078-1080)agT>agA	p.S360R	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000223051.3_Missense_Mutation_p.S360R			Q9UP52	TFR2_HUMAN	transferrin receptor 2	360					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAATGTCTGCACTGATGGGCT	0.597000													7	102					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183621132	183621132	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:183621132A>G	ENST00000264065.6	+	18	2160	c.1745A>G	c.(1744-1746)gAt>gGt	p.D582G		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	582	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGATGGTTGATTTCTATTCT	0.393000													10	45					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415620	43415620	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:43415620G>A	ENST00000244533.3	+	16	4179	c.3820G>A	c.(3820-3822)Ggg>Agg	p.G1274R	ABCC10_ENST00000372530.4_Missense_Mutation_p.G1302R	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1302	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCCCAGTTCAGGGCGAGTGCT	0.642000													13	92					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63076004	63076004	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr15:63076004G>A	ENST00000561311.1	+	44	5881	c.5651G>A	c.(5650-5652)gGa>gAa	p.G1884E	TLN2_ENST00000306829.6_Missense_Mutation_p.G1884E|TLN2_ENST00000472902.1_Missense_Mutation_p.G277E			Q9Y4G6	TLN2_HUMAN	talin 2	1884					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAGGAGTTGGGAGGACTGGCT	0.527000													3	34					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262478	43262478	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:43262478C>T	ENST00000255226.6	+	20	3573	c.2757C>T	c.(2755-2757)gtC>gtT	p.V919V	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.V396V|SLC14A2_ENST00000586448.1_Silent_p.V919V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	919						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTACGATGTCTCCTAAGTTT	0.488000													12	73					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94164828	94164828	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:94164828G>C	ENST00000297273.4	+	8	1123	c.836G>C	c.(835-837)aGa>aCa	p.R279T		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	279						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAATCGAGCAGAGAAACTGTG	0.303000													4	31					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128797440	128797440	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:128797440G>A	ENST00000274487.4	+	2	864	c.719G>A	c.(718-720)gGa>gAa	p.G240E		NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	240					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G240V(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCACCTGTGGAGGTGGCCTG	0.622000													14	111					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116421204	116421204	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:116421204G>A	ENST00000281928.3	-	21	4879	c.4673C>T	c.(4672-4674)gCt>gTt	p.A1558V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1558					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGCACTGCCAGCTGGGGGAGC	0.542000											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	68					0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70892714	70892714	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:70892714G>A	ENST00000373382.1	+	3	717	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.E22K|VPS26A_ENST00000395098.1_Missense_Mutation_p.E22K			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	22					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TAATGATGGGGAAACCAGGAA	0.343000													11	23					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220284169	220284169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:220284169G>T	ENST00000366922.1	+	11	1484	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*	IARS2_ENST00000302637.5_Nonsense_Mutation_p.E457*			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	457					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GTTGAAAGAGGAGAAATTGGT	0.343000													7	36					3.09899e-07	4.58754e-07	1	1	0
CD99L2	83692	broad.mit.edu	37	X	149944724	149944724	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:149944724G>A	ENST00000370377.3	-	9	695	c.578C>T	c.(577-579)gCc>gTc	p.A193V	CD99L2_ENST00000355149.3_Missense_Mutation_p.A121V|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.A144V|CD99L2_ENST00000437787.2_Missense_Mutation_p.A120V	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	193					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCCAGGGCGCTGGCCAC	0.607000													7	43					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9166609	9166609	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:9166609C>A	ENST00000328194.3	-	18	3375	c.3055G>T	c.(3055-3057)Ggg>Tgg	p.G1019W	DENND5A_ENST00000530044.1_Missense_Mutation_p.G1019W|DENND5A_ENST00000527700.1_Missense_Mutation_p.G362W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1019	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCATACAGCCCAGAGTTATCA	0.458000													13	56					1.5842e-08	2.49216e-08	1	1	0
ST8SIA4	7903	broad.mit.edu	37	5	100192038	100192038	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:100192038G>T	ENST00000231461.5	-	4	876	c.566C>A	c.(565-567)aCc>aAc	p.T189N		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	189					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TGGATTCATGGTAATAAAATC	0.378000													7	41					0.00198382	0.00226784	1	1	0
MARC1	64757	broad.mit.edu	37	1	220971349	220971349	+	Missense_Mutation	SNP	A	A	G	rs144239231	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:220971349A>G	ENST00000366910.5	+	4	932	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	249	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TGCGATGTCTATGCAGAGGTA	0.423000													14	99					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807474	143807474	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:143807474G>A	ENST00000408979.2	+	1	868	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TAATCAACGAGAGGAGCAGGA	0.507000													15	144					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122361775	122361775	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:122361775G>A	ENST00000288912.4	+	3	1480	c.626G>A	c.(625-627)gGa>gAa	p.G209E	WDR66_ENST00000397454.2_Missense_Mutation_p.G209E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	209							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGAGGAGGGACAAGAAAGG	0.522000													8	44					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64568402	64568402	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:64568402T>A	ENST00000294066.2	-	9	723	c.632A>T	c.(631-633)cAg>cTg	p.Q211L	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.Q211L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	211	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGAGGGGGCTGCAGCTCGCC	0.642000													25	73					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717196	142717196	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:142717196C>T	ENST00000381779.4	-	2	1954	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E577K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E577K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	577	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAGATTTCATTTTTGAGG	0.463000													18	133					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39308351	39308351	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:39308351C>A	ENST00000263408.4	-	8	1316	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	407	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCTCTCCCCTCTTTACACAAT	0.428000													10	46					4.68919e-08	7.18373e-08	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37027103	37027103	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:37027103T>A	ENST00000358047.3	+	1	672	c.620T>A	c.(619-621)gTg>gAg	p.V207E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	207										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAGACTCCGGTGTCCAGTCTC	0.652000													9	104					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380645	136380645	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:136380645C>A	ENST00000339996.3	-	4	585	c.484G>T	c.(484-486)Gcg>Tcg	p.A162S		NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	162						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AGGGCCAGCGCCCCGAAGCAG	0.617000													19	73					5.03518e-11	8.75756e-11	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308837	248308837	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:248308837C>A	ENST00000366476.1	+	1	388	c.388C>A	c.(388-390)Cta>Ata	p.L130I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTGCCACCCTCTAAGATACAC	0.443000													33	243					1.36615e-20	2.65667e-20	1	1	0
LRIG1	26018	broad.mit.edu	37	3	66465370	66465370	+	Silent	SNP	T	T	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:66465370T>G	ENST00000383703.3	-	5	1224	c.621A>C	c.(619-621)gcA>gcC	p.A207A	LRIG1_ENST00000273261.3_Silent_p.A207A			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	207						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTAGCTTGAATGCTCTTACAG	0.498000													10	63					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93185138	93185138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:93185138C>A	ENST00000393218.2	-	4	527	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	LGMN_ENST00000555699.1_Nonsense_Mutation_p.E64*|LGMN_ENST00000334869.4_Nonsense_Mutation_p.E64*|LGMN_ENST00000557434.1_Nonsense_Mutation_p.E64*	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	64					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACGATCTGTTCGTCAGGAATC	0.468000													10	62					3.86212e-05	4.96424e-05	1	1	0
CEP250	11190	broad.mit.edu	37	20	34089777	34089777	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:34089777A>G	ENST00000397527.1	+	29	4724	c.4004A>G	c.(4003-4005)cAg>cGg	p.Q1335R	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1279R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1335	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGAGCTACAGCGAATGGAA	0.542000													3	46					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502596	20502596	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:20502596C>T	ENST00000315693.2	-	1	323	c.322G>A	c.(322-324)Ggt>Agt	p.G108S		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACTCCCACCCAGGAGGTGC	0.473000													7	39					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725702	45725702	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:45725702C>A	ENST00000297323.7	+	13	2237	c.2215C>A	c.(2215-2217)Ctc>Atc	p.L739I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	739					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGTGGGCACCCTCCCGCTAGC	0.617000													12	54					1.61879e-10	2.73431e-10	1	1	0
OR13C4	138804	broad.mit.edu	37	9	107289094	107289094	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:107289094G>T	ENST00000277216.3	-	1	396	c.397C>A	c.(397-399)Ccc>Acc	p.P133T		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGATGATGGGGTATCTCAGA	0.453000													15	76					1.05317e-09	1.72904e-09	1	1	0
RPL10L	140801	broad.mit.edu	37	14	47120456	47120456	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:47120456G>T	ENST00000298283.3	-	1	572	c.484C>A	c.(484-486)Cgc>Agc	p.R162S		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R162S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATCTTCTGGCGTCCAGGGAAC	0.502000													12	112					3.07112e-06	4.21479e-06	1	1	0
ERICH1	157697	broad.mit.edu	37	8	642483	642483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:642483G>T	ENST00000262109.7	-	3	376	c.299C>A	c.(298-300)aCa>aAa	p.T100K	ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	100										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTTACCTTCTGTGTCATCCCC	0.532000													25	101					8.24728e-16	1.56907e-15	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32595831	32595831	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:32595831T>G	ENST00000286827.3	-	9	2357	c.1886A>C	c.(1885-1887)cAg>cCg	p.Q629P	TIAM1_ENST00000541036.1_Missense_Mutation_p.Q629P|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	629					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCCCCACCCTGAAGGCTGGC	0.493000													11	75					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122630730	122630730	+	Missense_Mutation	SNP	G	G	A	rs144440500	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:122630730G>A	ENST00000263461.6	+	10	1589	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	448						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCAATTCTGCGGGAAGTGCAC	0.443000													4	48					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961253	5961253	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:5961253C>A	ENST00000531445.1	-	7	2148	c.2102G>T	c.(2101-2103)gGa>gTa	p.G701V	C4orf50_ENST00000324058.5_Missense_Mutation_p.G227V			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	227										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ACAGGGCATTCCGCCTTTTTC	0.582000													14	65					6.31663e-08	9.59326e-08	1	1	0
ACSF3	197322	broad.mit.edu	37	16	89178649	89178649	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:89178649A>T	ENST00000317447.4	+	5	1349	c.972A>T	c.(970-972)aaA>aaT	p.K324N	ACSF3_ENST00000406948.3_Missense_Mutation_p.K324N|ACSF3_ENST00000378345.4_Missense_Mutation_p.K59N	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	324					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGAAGAAAAAATTAGGTAAG	0.418000													26	91					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768634	39768634	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:39768634C>A	ENST00000301653.4	-	1	371	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	103	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				aaaccaccaccaaagccagca	0.607000													19	103					3.32936e-07	4.91477e-07	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16876465	16876465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:16876465C>A	ENST00000355661.3	-	6	503	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.V165L|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.V165L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	165	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTCACCACCACGGGAACATTG	0.527000													10	56					7.03913e-09	1.13098e-08	1	1	0
TEX2	55852	broad.mit.edu	37	17	62291188	62291188	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:62291188C>A	ENST00000258991.3	-	2	474	c.390G>T	c.(388-390)gtG>gtT	p.V130V	TEX2_ENST00000584379.1_Silent_p.V130V|TEX2_ENST00000583097.1_Silent_p.V130V			Q8IWB9	TEX2_HUMAN	testis expressed 2	130					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGCCAATGGCACTGTACTTA	0.552000													26	128					7.92952e-12	1.42138e-11	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102452668	102452668	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:102452668G>T	ENST00000360184.4	+	8	2270	c.2106G>T	c.(2104-2106)tgG>tgT	p.W702C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	702	Interaction with DYNC1I2 (By similarity).|Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGATGACTGGGCAAGGAAGG	0.562000													6	43					0.00116845	0.00135932	1	1	0
C1orf85	112770	broad.mit.edu	37	1	156264681	156264681	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:156264681C>A	ENST00000362007.1	-	2	273	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	C1orf85_ENST00000472870.1_5'UTR|C1orf85_ENST00000368264.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	83					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TTGGTGGCCACCATTACCACT	0.622000													15	187					1.3612e-06	1.93357e-06	1	1	0
SPNS3	201305	broad.mit.edu	37	17	4337385	4337385	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:4337385G>T	ENST00000355530.2	+	1	403	c.123G>T	c.(121-123)ccG>ccT	p.P41P	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	41					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCCTGCCCCCGTGGAGGGCCT	0.652000													13	71					1.5842e-08	2.49216e-08	1	1	0
DNASE1L1	1774	broad.mit.edu	37	X	153631308	153631308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153631308G>T	ENST00000369809.1	-	9	1378	c.749C>A	c.(748-750)aCg>aAg	p.T250K	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.T250K	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	250					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGAAGCTCGTGGGGAAGTC	0.682000													14	79					4.36969e-10	7.26444e-10	1	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177142	89177142	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:89177142C>T	ENST00000561129.2	+	1	188	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P20S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AAAAGACAGCCCGGCGAAGAC	0.527000													8	88					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936923	15936923	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:15936923C>A	ENST00000504595.1	+	4	1585	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	FBXL7_ENST00000510662.1_Silent_p.I321I|FBXL7_ENST00000329673.7_Silent_p.I356I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	368					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACGTGGGCATCCGCTACGTGG	0.662000													7	25					1.06961e-07	1.61515e-07	1	1	0
SLC10A4	201780	broad.mit.edu	37	4	48486061	48486061	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:48486061C>G	ENST00000273861.4	+	1	702	c.483C>G	c.(481-483)ttC>ttG	p.F161L		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	161						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCCTCGCCTTCAAGCTGGACG	0.687000													4	37					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922420	43922420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:43922420C>A	ENST00000329196.5	+	1	165	c.148C>A	c.(148-150)Ccc>Acc	p.P50T	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	50						integral to membrane	aspartic-type endopeptidase activity										CATCACCCTCCCCCGGGACCT	0.657000													11	64					1.58986e-06	2.23429e-06	1	1	0
FFAR4	338557	broad.mit.edu	37	10	95326733	95326733	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:95326733C>A	ENST00000371483.4	+	1	312	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	FFAR4_ENST00000371481.4_Missense_Mutation_p.L86M|FFAR4_ENST00000604414.1_Missense_Mutation_p.L86M	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		CTGCGCGGACCTGCTCTTCAT	0.677000													3	38					6.4e-05	8.12902e-05	1	1	0
KAZN	23254	broad.mit.edu	37	1	14925523	14925523	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:14925523C>T	ENST00000376030.2	+	1	324	c.30C>T	c.(28-30)ctC>ctT	p.L10L	KAZN_ENST00000503743.1_Silent_p.L10L|KAZN_ENST00000422387.2_Silent_p.L10L	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	10					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGCTCGCGCTCCGCATCGATG	0.667000													8	43					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145150923	145150923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:145150923A>T	ENST00000318911.4	+	2	390	c.317A>T	c.(316-318)gAc>gTc	p.D106V		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	106					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTTCCTTGGACCACACCAGG	0.627000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	67					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005500	74005500	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:74005500C>T	ENST00000358602.4	-	15	2949	c.2833G>A	c.(2833-2835)Gct>Act	p.A945T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A832T|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	945	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCTGAGCAGCAGTCTGCTGG	0.532000													16	86					0	0	1	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015571	53015571	+	RNA	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:53015571C>A	ENST00000599143.1	-	0	24																											TACCATCAGGCCATTCATGGT	0.398000													3	41					0.00909568	0.00996554	1	1	0
PRKD3	23683	broad.mit.edu	37	2	37505047	37505047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:37505047C>A	ENST00000379066.1	-	9	2020	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	PRKD3_ENST00000234179.2_Nonsense_Mutation_p.E420*			O94806	KPCD3_HUMAN	protein kinase D3	420	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATCCACCCTTCCTTCACCATT	0.383000													17	75					4.96729e-08	7.56579e-08	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055836	40055836	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:40055836G>T	ENST00000336649.4	+	17	2601	c.2601G>T	c.(2599-2601)ctG>ctT	p.L867L	CACNA1I_ENST00000404898.1_Silent_p.L826L|CACNA1I_ENST00000402142.3_Silent_p.L861L|CACNA1I_ENST00000400164.3_Silent_p.L826L|CACNA1I_ENST00000401624.1_Silent_p.L861L|CACNA1I_ENST00000407673.1_Silent_p.L826L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	861					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGCCATCCTGGTGGAGGGCT	0.617000													13	68					1.61879e-10	2.73431e-10	1	1	0
TENM1	10178	broad.mit.edu	37	X	123519821	123519821	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:123519821G>T	ENST00000422452.2	-	29	5845	c.5782C>A	c.(5782-5784)Cgt>Agt	p.R1928S	TENM1_ENST00000371130.3_Missense_Mutation_p.R1921S|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGCTGTGACGCACCATGCTA	0.493000													5	77					1.23904e-05	1.63653e-05	1	1	0
MMP16	4325	broad.mit.edu	37	8	89053876	89053876	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:89053876G>C	ENST00000286614.6	-	10	1918	c.1637C>G	c.(1636-1638)cCa>cGa	p.P546R		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	546					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TACATCATCTGGTGGGCTGTG	0.458000													12	50					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981857	64981857	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:64981857G>T	ENST00000525437.1	+	0	475							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTACATGGCCGGGGTGCTGGT	0.672000													5	41					1.06961e-07	1.61515e-07	1	1	0
MYOZ2	51778	broad.mit.edu	37	4	120072034	120072034	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:120072034T>A	ENST00000307128.5	+	3	297	c.84T>A	c.(82-84)gaT>gaA	p.D28E		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	28							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGATGTTGATGGCATGGACC	0.373000													4	43					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625477	74625477	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:74625477T>A	ENST00000156626.7	-	2	647	c.448A>T	c.(448-450)Agg>Tgg	p.R150W	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	150					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCCTCTGTCCTGCCAGAGGCC	0.567000													39	161					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180159673	180159673	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:180159673G>T	ENST00000367602.3	+	10	1320	c.1246G>T	c.(1246-1248)Gtg>Ttg	p.V416L	QSOX1_ENST00000367600.5_Missense_Mutation_p.V416L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	416	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTCTTGACTGTGCAGGCAGC	0.597000													17	142					1.5739e-10	2.68428e-10	1	1	0
MYBPC3	4607	broad.mit.edu	37	11	47355267	47355267	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:47355267C>T	ENST00000545968.1	-	29	3085	c.3031G>A	c.(3031-3033)Ggg>Agg	p.G1011R	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G1011R|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G1010R	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1010	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGGGGCTGCCCCTCTTTGGTC	0.657000													6	41					0	0	1	0	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													3	41					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587720	247587720	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:247587720C>A	ENST00000366497.2	+	4	1755	c.975C>A	c.(973-975)gcC>gcA	p.A325A	NLRP3_ENST00000391828.3_Silent_p.A325A|NLRP3_ENST00000391827.2_Silent_p.A325A|NLRP3_ENST00000366496.2_Silent_p.A325A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.A325A|NLRP3_ENST00000336119.3_Silent_p.A325A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	325	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A325A(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGCAGAAGGCCGAGCGGGGAG	0.577000													8	115					0.00307968	0.00348281	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100962535	100962535	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:100962535C>T	ENST00000193391.7	-	13	2827	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	880					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGGCCAAGCCACACTAACCA	0.458000													4	31					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853266	53853266	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:53853266T>A	ENST00000331251.3	+	1	2276	c.799T>A	c.(799-801)Tac>Aac	p.Y267N		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	267					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CTGGACGCCCTACCACCTGAG	0.662000													6	46					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12183497	12183497	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:12183497G>T	ENST00000432424.2	+	0	699							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGGTTGTCCGGTAAGGGTCTT	0.502000													8	27					3.09899e-07	4.58754e-07	1	1	0
NFASC	23114	broad.mit.edu	37	1	204956610	204956610	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:204956610G>T	ENST00000367172.4	+	24	3184	c.2856G>T	c.(2854-2856)tgG>tgT	p.W952C	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.W937C|NFASC_ENST00000401399.1_Missense_Mutation_p.W845C|NFASC_ENST00000404907.1_Missense_Mutation_p.W948C|NFASC_ENST00000339876.6_Missense_Mutation_p.W845C|NFASC_ENST00000367170.4_Missense_Mutation_p.W952C|NFASC_ENST00000539706.1_Missense_Mutation_p.W948C|NFASC_ENST00000367169.4_Missense_Mutation_p.W845C|NFASC_ENST00000360049.4_Missense_Mutation_p.W948C|NFASC_ENST00000513543.1_Missense_Mutation_p.W948C|NFASC_ENST00000338586.6_Missense_Mutation_p.W952C|NFASC_ENST00000338515.6_Missense_Mutation_p.W952C|NFASC_ENST00000404076.1_Missense_Mutation_p.W931C			O94856	NFASC_HUMAN	neurofascin	952	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTGGAATGGGATCATCCTG	0.532000													6	50					2.0095e-06	2.77954e-06	1	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11374269	11374269	+	Missense_Mutation	SNP	A	A	G	rs2071460	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:11374269A>G	ENST00000528848.2	-	1	635	c.398T>C	c.(397-399)aTt>aCt	p.I133T	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		GTAAAATCGAATATCATAGTC	0.408000													5	76					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114179548	114179548	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:114179548C>A	ENST00000357077.4	+	13	1420	c.1367C>A	c.(1366-1368)tCt>tAt	p.S456Y	ANK2_ENST00000394537.3_Missense_Mutation_p.S456Y|ANK2_ENST00000506722.1_Missense_Mutation_p.S435Y|ANK2_ENST00000264366.6_Missense_Mutation_p.S456Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	456					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACGGAGCCTCTCCAGATGTC	0.507000													8	66					2.74318e-10	4.58938e-10	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153225597	153225597	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153225597G>T	ENST00000310441.7	-	8	2066	c.1100C>A	c.(1099-1101)cCa>cAa	p.P367Q	HCFC1_ENST00000369984.4_Missense_Mutation_p.P367Q|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.P367Q	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	367					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTCGGGCTGGGGGTGGTGG	0.622000													6	29					2.0095e-06	2.77954e-06	1	1	0
MANBA	4126	broad.mit.edu	37	4	103595154	103595154	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:103595154A>C	ENST00000226578.4	-	8	1133	c.1034T>G	c.(1033-1035)aTt>aGt	p.I345S	MANBA_ENST00000505239.1_Missense_Mutation_p.I288S	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	345					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AAATCCATTAATTTTGAAATA	0.358000													3	25					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349247	189349247	+	Translation_Start_Site	SNP	A	A	T	rs28673064	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:189349247A>T	ENST00000264731.3	+	0	32				TP63_ENST00000382063.4_De_novo_Start_OutOfFrame	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGGTATATGTGTATATT	0.368000										HNSCC(45;0.13)			3	31					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703224	4703224	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:4703224A>T	ENST00000396950.3	-	2	957	c.718T>A	c.(718-720)Tgt>Agt	p.C240S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTGACACACAGGTTCCAAAG	0.507000													6	58					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117948208	117948208	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:117948208G>T	ENST00000356554.3	+	3	1331	c.596G>T	c.(595-597)gGg>gTg	p.G199V	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	199					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGGACATATGGGTGGGGACAT	0.308000													6	35					8.12818e-05	0.000102723	1	1	0
CNGA1	1259	broad.mit.edu	37	4	47944162	47944162	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:47944162C>A	ENST00000402813.3	-	8	802	c.660G>T	c.(658-660)gaG>gaT	p.E220D	CNGA1_ENST00000358519.4_Missense_Mutation_p.E151D|CNGA1_ENST00000514170.1_Missense_Mutation_p.E151D|CNGA1_ENST00000544810.1_Missense_Mutation_p.E151D|CNGA1_ENST00000420489.2_Missense_Mutation_p.E151D			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	151					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTTCTTTCTTCTCCCTAGCGG	0.363000													6	23					0.0293803	0.0310912	1	1	0
VCAN	1462	broad.mit.edu	37	5	82833739	82833739	+	Silent	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:82833739A>T	ENST00000265077.3	+	8	5482	c.4917A>T	c.(4915-4917)acA>acT	p.T1639T	VCAN_ENST00000343200.5_Silent_p.T652T|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1639	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCCAATTACAGAAGGCTCTG	0.413000													3	31					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81964342	81964342	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:81964342C>G	ENST00000336735.4	-	10	1138	c.1022G>C	c.(1021-1023)cGg>cCg	p.R341P		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	341	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)		ATCAGGCAGCCGTATTCTCTG	0.393000													5	32					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99006077	99006077	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:99006077C>A	ENST00000453547.2	-	7	944	c.945G>T	c.(943-945)cgG>cgT	p.R315R	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000371027.1_Silent_p.R306R|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.R286R|ARHGAP19_ENST00000355366.5_Silent_p.R306R|ARHGAP19_ENST00000358531.4_Silent_p.R315R|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.R315R																							TCGCACACTCCCGAATGTAAG	0.433000													3	18					0.00909568	0.00996554	1	1	0
TG	7038	broad.mit.edu	37	8	133898837	133898837	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:133898837C>T	ENST00000220616.4	+	9	1260	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	TG_ENST00000377869.1_Missense_Mutation_p.S407F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	407					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTGCCACATCCTGCCCACCC	0.532000													31	185					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; 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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612000		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)			11	89					0.000673444	0.000792199	1	1	0
RCOR2	283248	broad.mit.edu	37	11	63681629	63681629	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:63681629G>T	ENST00000301459.4	-	8	1075	c.688C>A	c.(688-690)Cgg>Agg	p.R230R		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TTCAGGGGCCGAGAGGGTAGA	0.647000													13	101					7.03913e-09	1.13098e-08	1	1	0
TMEM248	55069	broad.mit.edu	37	7	66410080	66410080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:66410080C>T	ENST00000341567.4	+	3	532	c.277C>T	c.(277-279)Cag>Tag	p.Q93*		NM_017994.4	NP_060464.1			transmembrane protein 248																		GACCAGCGGGCAGGCCCGAGC	0.547000													10	93					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099811	110099811	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:110099811T>A	ENST00000518632.1	+	2	421	c.70T>A	c.(70-72)Tac>Aac	p.Y24N	TRHR_ENST00000311762.2_Missense_Mutation_p.Y24N			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	24						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGCCTTAGAATACCAGGTGGT	0.458000													5	45					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32455295	32455295	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:32455295C>A	ENST00000283365.9	+	17	1935	c.1584C>A	c.(1582-1584)acC>acA	p.T528T	DTNA_ENST00000595022.1_Silent_p.T525T|DTNA_ENST00000269192.7_Silent_p.T294T|DTNA_ENST00000399097.3_Silent_p.T233T|DTNA_ENST00000591182.1_Silent_p.T233T|DTNA_ENST00000444659.1_Silent_p.T585T|DTNA_ENST00000269190.7_Silent_p.T586T|DTNA_ENST00000590831.2_Silent_p.T11T|DTNA_ENST00000556414.3_Silent_p.T237T|DTNA_ENST00000399113.3_Silent_p.T585T|DTNA_ENST00000598334.1_Silent_p.T525T|DTNA_ENST00000598142.1_Silent_p.T528T|DTNA_ENST00000601125.1_Silent_p.T207T|DTNA_ENST00000399121.5_Silent_p.T532T	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	585					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCTGCTCCACCCCGACGCACA	0.592000													12	85					6.40141e-05	8.12902e-05	1	1	0
SIGLEC6	946	broad.mit.edu	37	19	52034550	52034550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:52034550C>T	ENST00000346477.3	-	2	359	c.291G>A	c.(289-291)tgG>tgA	p.W97*	SIGLEC6_ENST00000359982.4_Nonsense_Mutation_p.W97*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.W61*|SIGLEC6_ENST00000391797.3_Nonsense_Mutation_p.W97*|SIGLEC6_ENST00000425629.3_Nonsense_Mutation_p.W97*|SIGLEC6_ENST00000343300.4_Nonsense_Mutation_p.W97*	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	97	Ig-like V-type.				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)		TTCTGGGATCCCAGAGGAGGT	0.552000													19	80					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456394	60456394	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:60456394C>A	ENST00000371201.3	-	12	1699	c.1592G>T	c.(1591-1593)gGa>gTa	p.G531V	C1orf87_ENST00000395552.1_Missense_Mutation_p.G165V|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.G302V	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	531							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CATATTTTCTCCCGAACGGAA	0.473000													30	137					1.7881e-09	2.91743e-09	1	1	0
MTUS1	57509	broad.mit.edu	37	8	17512106	17512106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:17512106C>A	ENST00000381869.3	-	9	3489	c.3016G>T	c.(3016-3018)Gaa>Taa	p.E1006*	MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000400046.1_Nonsense_Mutation_p.E132*|MTUS1_ENST00000381861.3_Nonsense_Mutation_p.E307*|MTUS1_ENST00000544260.1_Nonsense_Mutation_p.E205*|MTUS1_ENST00000262102.6_Nonsense_Mutation_p.E1060*|MTUS1_ENST00000297488.6_Nonsense_Mutation_p.E226*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.E1006*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1060						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTAGCAATTCAAGTTTCTCT	0.383000													9	21					2.17888e-05	2.84225e-05	1	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54618264	54618264	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:54618264A>G	ENST00000230640.5	+	2	498	c.244A>G	c.(244-246)Ata>Gta	p.I82V	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	82					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAAGCCCAGGATAGAAGAGTC	0.318000													8	56					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226738	1226738	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:1226738C>T	ENST00000338555.2	+	15	2809	c.1665C>T	c.(1663-1665)gcC>gcT	p.A555A	SCNN1D_ENST00000379116.5_Silent_p.A719A|SCNN1D_ENST00000400928.3_Silent_p.A555A|SCNN1D_ENST00000325425.8_Silent_p.A621A					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ATGCTTCTGCCCTCACCCTGG	0.697000													4	21					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53205599	53205599	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:53205599G>C	ENST00000551956.1	-	2	1117	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	KRT4_ENST00000293774.4_Missense_Mutation_p.L283V|KRT4_ENST00000458244.2_Missense_Mutation_p.L189V			B4DRS2	B4DRS2_HUMAN	keratin 4	209						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCAGACTGCAGGCGCCCTTTG	0.562000													6	41					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61319701	61319701	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:61319701G>T	ENST00000402291.1	+	11	1432	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	KIAA1841_ENST00000453873.1_Silent_p.L397L|KIAA1841_ENST00000356719.2_Silent_p.L397L|KIAA1841_ENST00000295031.5_Silent_p.L397L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	397										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TCAATTGGCTGACTTGTTCAA	0.318000													7	28					0.00198382	0.00226784	1	1	0
TBC1D29	26083	broad.mit.edu	37	17	28890266	28890266	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:28890266C>G	ENST00000580161.1	+	6	2773	c.276C>G	c.(274-276)caC>caG	p.H92Q	TBC1D29_ENST00000584297.1_Missense_Mutation_p.T76S|TBC1D29_ENST00000579181.1_Missense_Mutation_p.H92Q			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	92						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				AGAGCCTCCACTCCTCCCTGC	0.632000													4	24					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715561	165715561	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:165715561G>T	ENST00000230301.8	-	2	270	c.250C>A	c.(250-252)Cac>Aac	p.H84N	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	84										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTGGGCCGGTGGGCATTGGGC	0.647000													12	69					1.08611e-07	1.63071e-07	1	1	0
RAI1	10743	broad.mit.edu	37	17	17698452	17698452	+	Silent	SNP	G	G	T	rs141039036	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:17698452G>T	ENST00000353383.1	+	3	2659	c.2190G>T	c.(2188-2190)ccG>ccT	p.P730P	RAI1_ENST00000261641.6_Silent_p.P730P	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	730						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACTGTTTCCCGGACACAACCG	0.602000													11	116					3.86212e-05	4.96424e-05	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158621214	158621214	+	Silent	SNP	T	T	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:158621214T>C	ENST00000368148.3	-	24	3600	c.3420A>G	c.(3418-3420)gtA>gtG	p.V1140V	SPTA1_ENST00000368147.3_Silent_p.V1140V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1140					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCATCAGCTACCTTGTTGA	0.448000													6	96					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15584404	15584404	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:15584404C>A	ENST00000342526.3	-	3	571	c.402G>T	c.(400-402)atG>atT	p.M134I		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	134					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TACCATGAGCCATACGATGGA	0.388000													8	33					5.18039e-06	7.01817e-06	1	1	0
OR5K1	26339	broad.mit.edu	37	3	98189193	98189193	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:98189193T>C	ENST00000332650.5	+	1	870	c.773T>C	c.(772-774)aTg>aCg	p.M258T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTTTCTTCATGTACGTTAGA	0.343000													3	25					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33675629	33675629	+	RNA	SNP	A	A	C	rs7849845	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:33675629A>C	ENST00000532280.1	-	0	1868					NR_023917.1																						TTCACCTTAAAATTTGGAGAA	0.383000													3	38					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059440	248059440	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:248059440G>A	ENST00000537741.1	+	3	809	c.552G>A	c.(550-552)ctG>ctA	p.L184L	OR2W3_ENST00000360358.3_Silent_p.L184L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCCCGCCCTGATCCGGATGG	0.627000													33	112					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21840309	21840309	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:21840309G>T	ENST00000434536.1	+	11	1392	c.1290G>T	c.(1288-1290)gtG>gtT	p.V430V	XPO7_ENST00000433566.4_Silent_p.V422V|XPO7_ENST00000252512.9_Silent_p.V421V			Q9UIA9	XPO7_HUMAN	exportin 7	421				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGGAATCTGTGCACATCATAC	0.512000													8	64					7.48243e-07	1.08629e-06	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821852	5821852	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:5821852C>A	ENST00000381095.3	-	5	1494	c.867G>T	c.(865-867)gtG>gtT	p.V289V	NLGN4X_ENST00000538097.1_Silent_p.V289V|NLGN4X_ENST00000275857.6_Silent_p.V289V|NLGN4X_ENST00000381093.2_Silent_p.V309V|NLGN4X_ENST00000381092.1_Silent_p.V289V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	289					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCTGGTAGTTCACTGCCCAGC	0.547000													10	81					0.000673444	0.000792199	1	1	0
FERD3L	222894	broad.mit.edu	37	7	19184486	19184486	+	Nonstop_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:19184486C>A	ENST00000275461.3	-	1	558	c.500G>T	c.(499-501)tGa>tTa	p.*167L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ACACCAGGCTCAGCCGCTTTC	0.612000													6	41					0.00198382	0.00226784	1	1	0
TSHR	7253	broad.mit.edu	37	14	81574987	81574987	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:81574987G>C	ENST00000342443.6	+	9	974	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	TSHR_ENST00000554435.1_Missense_Mutation_p.E263Q|RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Intron|TSHR_ENST00000554263.1_3'UTR|TSHR_ENST00000541158.2_Intron	NM_001018036.2|NM_001142626.2	NP_001018046.1|NP_001136098.1	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	0					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTTGTCCTTTGAGACTCAGAA	0.512000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						15	60					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909739	101909739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:101909739G>T	ENST00000537097.1	+	6	1711	c.898G>T	c.(898-900)Gag>Tag	p.E300*	GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.E300*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E300*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E300*|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	300						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGATCTGAGCATGAAGA	0.488000													21	113					1.00905e-13	1.87242e-13	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163174656	163174656	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:163174656C>A	ENST00000263642.2	-	1	557	c.162G>T	c.(160-162)ggG>ggT	p.G54G	IFIH1_ENST00000421365.2_Silent_p.G54G	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	54	CARD 1.				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						CCTGCATGTTCCCGGAGGTGG	0.582000													11	67					0.000673444	0.000792199	1	1	0
MIR551B	693136	broad.mit.edu	37	3	168269725	168269725	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:168269725G>T	ENST00000384984.1	+	0	84					NR_030294.1																						GGTTTCAGAGGCTGTGAGAAT	0.428000													8	37					3.09899e-07	4.58754e-07	1	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151161687	151161687	+	Silent	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:151161687A>G	ENST00000367328.1	+	17	4125	c.3813A>G	c.(3811-3813)aaA>aaG	p.K1271K	PLEKHG1_ENST00000358517.2_Silent_p.K1271K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1271					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCAATTTCAAAGAGACTGATG	0.388000													4	38					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9108278	9108278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:9108278C>A	ENST00000382496.5	-	16	2712	c.2047G>T	c.(2047-2049)Ggg>Tgg	p.G683W		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	683	TSP type-1 3.				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						CAGTCAGGCCCATTCTCACAG	0.552000													4	53					0.150653	0.154464	1	1	0
SNAI1	6615	broad.mit.edu	37	20	48600409	48600409	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:48600409T>C	ENST00000244050.2	+	2	192	c.131T>C	c.(130-132)aTc>aCc	p.I44T		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	44					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTGGCAGCCATCCCACCTCCG	0.577000													10	104					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153208331	153208331	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153208331G>A	ENST00000412763.1	-	6	832	c.663C>T	c.(661-663)gcC>gcT	p.A221A	RENBP_ENST00000369997.3_Silent_p.A207A|RENBP_ENST00000393700.3_Silent_p.A221A|RENBP_ENST00000462086.1_5'UTR			P51606	RENBP_HUMAN	renin binding protein	221					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GAATCCTCCGGGCGCACCAGT	0.682000													20	198					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281479	145281479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:145281479G>T	ENST00000369340.3	+	5	853	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G137W|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G137W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G137W			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	137	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGGCTTCACAGGGCAGAAGTG	0.552000													18	444					1.00905e-13	1.87242e-13	1	1	0
DNM3	26052	broad.mit.edu	37	1	172277946	172277946	+	Silent	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:172277946A>G	ENST00000358155.4	+	16	2024	c.1848A>G	c.(1846-1848)ctA>ctG	p.L616L	DNM3_ENST00000520906.1_Silent_p.L616L|DNM3_ENST00000355305.5_Silent_p.L626L|DNM3_ENST00000367731.1_Silent_p.L616L	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	626	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGGCATCTCTACTAAGAGCTG	0.358000													3	19					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541083	55541083	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:55541083T>A	ENST00000361760.1	+	1	170	c.170T>A	c.(169-171)cTc>cAc	p.L57H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AATTCAAAACTCCATACAATC	0.403000													4	72					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7889855	7889855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:7889855G>T	ENST00000381042.4	-	4	480	c.310C>A	c.(310-312)Cac>Aac	p.H104N	PNPLA4_ENST00000537427.1_Missense_Mutation_p.H17N|PNPLA4_ENST00000444736.1_Missense_Mutation_p.H104N	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	104	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GCCAGCTCGTGAGCGCTGGGA	0.438000													4	50					0.00024832	0.000304336	1	1	0
B3GNT3	10331	broad.mit.edu	37	19	17922639	17922639	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:17922639C>T	ENST00000318683.6	+	3	974	c.827C>T	c.(826-828)tCc>tTc	p.S276F	B3GNT3_ENST00000595387.1_Missense_Mutation_p.S276F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	276					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTCTTGCTGTCCCGCTTCACG	0.587000													19	103					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588171	39588171	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:39588171G>A	ENST00000352251.3	-	11	2051	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	PROSER1_ENST00000350125.3_Silent_p.L384L|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	406	Ser-rich.																TGGAAAAGGGGAGGCTAGTGA	0.522000													7	50					0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249649	119249649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:119249649G>T	ENST00000217999.2	-	1	198	c.124C>A	c.(124-126)Cca>Aca	p.P42T	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	42					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						ATGAGGCCTGGAGCTCCTTGG	0.587000													13	96					4.3838e-07	6.4174e-07	1	1	0
IFNG	3458	broad.mit.edu	37	12	68551693	68551693	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:68551693C>A	ENST00000229135.3	-	3	497	c.366_splice	c.e3+1	p.S122_splice	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	122					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	ATAGCCTCACCGAATAATTAG	0.363000													6	39					2.0095e-06	2.77954e-06	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57187866	57187866	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:57187866C>A	ENST00000331162.4	-	5	1526	c.1256G>T	c.(1255-1257)aGc>aTc	p.S419I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGAGGATAAGCTAAAGACTTT	0.453000													8	36					0.00307968	0.00348281	1	1	0
AMY2B	280	broad.mit.edu	37	1	104120392	104120392	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:104120392G>T	ENST00000361355.4	+	11	1887	c.1271G>T	c.(1270-1272)tGg>tTg	p.W424L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	424					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTACAAACTGGTATGATAAT	0.348000													19	126					1.00905e-13	1.87242e-13	1	1	0
SH3BP2	6452	broad.mit.edu	37	4	2831814	2831814	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:2831814A>T	ENST00000356331.5	+	8	1442	c.1181A>T	c.(1180-1182)gAg>gTg	p.E394V	SH3BP2_ENST00000511747.1_Missense_Mutation_p.E394V|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E394V|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E422V|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E451V|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E394V	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	394					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCAGTGCCTGAGGCCATGGCG	0.682000									Cherubism				6	54					0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186281972	186281972	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:186281972G>A	ENST00000424280.1	-	2	626	c.147C>T	c.(145-147)taC>taT	p.Y49Y	TBCCD1_ENST00000446782.1_Intron|TBCCD1_ENST00000338733.5_Silent_p.Y49Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	49					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGAGGCGCGGGTAAGCTCCTT	0.517000													10	58					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152225562	152225562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:152225562G>T	ENST00000447306.1	+	2	486	c.150G>T	c.(148-150)agG>agT	p.R50S	PNMA3_ENST00000370265.4_Missense_Mutation_p.R50S|PNMA3_ENST00000370264.4_Missense_Mutation_p.R50S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	50					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcagatacagggtgattggca	0.572000													5	103					1.23904e-05	1.63653e-05	1	1	0
GLS2	27165	broad.mit.edu	37	12	56874170	56874170	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:56874170C>A	ENST00000311966.4	-	2	462	c.182_splice	c.e2-1	p.D62_splice	GLS2_ENST00000539272.1_Splice_Site_p.D62_splice	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	62					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTGATGAATCACTGTTTGGG	0.502000													6	26					3.59834e-05	4.67075e-05	1	1	0
EPS8L1	54869	broad.mit.edu	37	19	55597560	55597560	+	Splice_Site	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:55597560G>A	ENST00000201647.6	+	16	1706	c.1650_splice	c.e16+1	p.L550_splice	EPS8L1_ENST00000245618.5_Splice_Site_p.L423_splice|EPS8L1_ENST00000588359.1_Splice_Site_p.L236_splice|EPS8L1_ENST00000540810.1_Splice_Site_p.L486_splice|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	550	Pro-rich.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCGCAGCCTGGTGAGCCAGC	0.652000													12	53					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429310	135429310	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:135429310C>A	ENST00000394143.1	+	6	3736	c.3445C>A	c.(3445-3447)Ccc>Acc	p.P1149T	GPR112_ENST00000412101.1_Missense_Mutation_p.P944T|GPR112_ENST00000394141.1_Missense_Mutation_p.P944T|GPR112_ENST00000370652.1_Missense_Mutation_p.P1149T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1086T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1149					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)					CTCAAAACCTCCCCCTGACAA	0.483000													12	110					0.00136819	0.00158819	1	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135767851	135767851	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:135767851C>A	ENST00000250617.6	-	12	2582	c.1377G>T	c.(1375-1377)caG>caT	p.Q459H	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q305H|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q305H|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q332H	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	459	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATGCTCCATACTGCACCATTA	0.348000													11	77					6.40141e-05	8.12902e-05	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40405554	40405554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:40405554G>T	ENST00000542756.1	-	3	1911	c.1888C>A	c.(1888-1890)Cgc>Agc	p.R630S	SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630S|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R630S|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630S|SLC8A1_ENST00000408028.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	630					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCACCAGGCGGGGCTCTCCA	0.498000													19	159					3.62473e-10	6.04504e-10	1	1	0
SEPT14	346288	broad.mit.edu	37	7	55912235	55912235	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:55912235G>C	ENST00000388975.3	-	4	468	c.352C>G	c.(352-354)Caa>Gaa	p.Q118E	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	118					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTCTATTTGATCACCATAC	0.328000													7	60					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6196890	6196890	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:6196890G>T	ENST00000262450.3	-	16	2571	c.2472C>A	c.(2470-2472)acC>acA	p.T824T	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	824	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTCATAGGAGGTGAGCAGCA	0.572000													4	34					0.00909568	0.00996554	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153223313	153223313	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153223313A>T	ENST00000310441.7	-	12	3019	c.2053T>A	c.(2053-2055)Tcg>Acg	p.S685T	HCFC1_ENST00000369984.4_Missense_Mutation_p.S685T|HCFC1_ENST00000354233.3_Missense_Mutation_p.S616T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	685	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGACCACCGACATCACTTTG	0.532000													11	112					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30914467	30914467	+	Silent	SNP	C	C	A	rs116099904	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:30914467C>A	ENST00000597505.1	-	34	4970	c.4971G>T	c.(4969-4971)ccG>ccT	p.P1657P	DCDC1_ENST00000406071.2_Silent_p.P395P			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.P347P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACAGGTTGCTCGGCTTGACTG	0.423000													4	43					0.00909568	0.00996554	1	1	0
C4orf40	401137	broad.mit.edu	37	4	71024441	71024441	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:71024441C>A	ENST00000344526.5	+	3	661	c.472C>A	c.(472-474)Cct>Act	p.P158T	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.P158T	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	158	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGCAGCTGAGCCTGCTGCAGA	0.637000													17	87					1.02788e-11	1.83005e-11	1	1	0
SI	6476	broad.mit.edu	37	3	164764780	164764780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:164764780G>T	ENST00000264382.3	-	16	1798	c.1736C>A	c.(1735-1737)cCt>cAt	p.P579H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	579	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTCTTATTAGGAAAAACTTT	0.303000										HNSCC(35;0.089)			3	24					0.150653	0.154464	1	1	0
C1orf85	112770	broad.mit.edu	37	1	156264682	156264682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:156264682C>A	ENST00000362007.1	-	2	272	c.246G>T	c.(244-246)atG>atT	p.M82I	C1orf85_ENST00000472870.1_5'UTR|C1orf85_ENST00000368264.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	82					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGTGGCCACCATTACCACTG	0.627000													15	189					1.3612e-06	1.93357e-06	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64677523	64677523	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:64677523C>T	ENST00000421419.2	-	13	1966	c.1852G>A	c.(1852-1854)Gcc>Acc	p.A618T	ATG2A_ENST00000377264.3_Missense_Mutation_p.A618T			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	618							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCAGGCCGGCTGGAGGCTCA	0.741000													4	38					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44131813	44131813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:44131813C>A	ENST00000262726.7	-	7	821	c.568G>T	c.(568-570)Gga>Tga	p.G190*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.G38*|EFCAB6_ENST00000358439.4_Nonsense_Mutation_p.G84*|EFCAB6_ENST00000356087.4_Nonsense_Mutation_p.G84*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	190	EF-hand 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CGAACCAGTCCAGTCTTGTTA	0.393000													3	31					6.4e-05	8.12902e-05	1	1	0
IGSF5	150084	broad.mit.edu	37	21	41151018	41151018	+	Splice_Site	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:41151018C>T	ENST00000380588.4	+	5	823	c.718_splice	c.e5-1	p.D240_splice	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	240						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CTTCTTTAGACACTGGAGGTG	0.353000													5	56					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077346	119077346	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:119077346G>A	ENST00000371410.3	-	1	389	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	75	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GACCGCGAGCGTGAGCGGTAG	0.657000													5	38					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089869	57089869	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:57089869A>G	ENST00000330619.8	+	6	2758	c.2072A>G	c.(2071-2073)cAt>cGt	p.H691R	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.H691R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	691					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)		CAGAGTGTACATCTTGCTCAT	0.443000													6	25					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140021618	140021618	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:140021618A>T	ENST00000394671.3	+	4	579	c.478A>T	c.(478-480)Agt>Tgt	p.S160C	TMCO6_ENST00000511410.1_3'UTR|TMCO6_ENST00000252100.6_Missense_Mutation_p.S160C|TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	160					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACCTCTCCAGTCACAGCTC	0.522000													21	129					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5396314	5396314	+	Silent	SNP	C	C	G	rs148045283	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:5396314C>G	ENST00000341928.2	-	19	3199	c.2859G>C	c.(2857-2859)acG>acC	p.T953T	EPB41L3_ENST00000342933.3_Silent_p.T953T|EPB41L3_ENST00000400111.3_Silent_p.T731T|EPB41L3_ENST00000542146.1_Silent_p.T258T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Silent_p.T250T|EPB41L3_ENST00000544123.1_Silent_p.T784T|EPB41L3_ENST00000540638.2_Silent_p.T731T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	953	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGATGGTTTCCGTCTTCACCG	0.453000													8	50					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464209	70464209	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:70464209C>A	ENST00000373998.1	-	20	3884	c.3187G>T	c.(3187-3189)Gtg>Ttg	p.V1063L	ZMYM3_ENST00000373984.3_Missense_Mutation_p.V1077L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1075L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V1075L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1077L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1075					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTTGACTGCACCCAGCACTTC	0.557000													5	51					0.014758	0.016003	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51041025	51041025	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr15:51041025T>G	ENST00000261854.5	-	3	494	c.220A>C	c.(220-222)Aac>Cac	p.N74H	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	74	PA.					integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCAGAAAGGTTGCATAGTGGT	0.368000													10	72					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539223	153539223	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153539223C>T	ENST00000369915.3	+	4	576	c.387C>T	c.(385-387)tcC>tcT	p.S129S	TKTL1_ENST00000369912.2_Silent_p.S73S|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	129					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGCGAGTCCTCAGAAGGCT	0.537000													9	97					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68220809	68220809	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:68220809C>A	ENST00000347230.4	-	38	7245	c.7107G>T	c.(7105-7107)atG>atT	p.M2369I	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.M215I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2369					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCCATTTTCATGTGGTTAT	0.453000													13	128					0.0167234	0.0180599	1	1	0
MAP2	4133	broad.mit.edu	37	2	210559333	210559333	+	Silent	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:210559333A>T	ENST00000360351.4	+	7	2945	c.2439A>T	c.(2437-2439)gcA>gcT	p.A813A	MAP2_ENST00000447185.1_Silent_p.A809A|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	813					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGATCTGGCAGGCACAAGGT	0.478000													8	74					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275497	130275497	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:130275497G>T	ENST00000257359.6	-	9	3332	c.2626C>A	c.(2626-2628)Ccc>Acc	p.P876T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	876	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCATCCTCGGGTTTCAGAGCC	0.647000													19	115					2.39187e-15	4.51798e-15	1	1	0
KANSL1	284058	broad.mit.edu	37	17	44248336	44248336	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:44248336T>A	ENST00000262419.6	-	2	1644	c.1174A>T	c.(1174-1176)Agg>Tgg	p.R392W	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'UTR|KANSL1_ENST00000575318.1_Missense_Mutation_p.R392W|KANSL1_ENST00000574590.1_Missense_Mutation_p.R392W|KANSL1_ENST00000572904.1_Missense_Mutation_p.R392W|KANSL1_ENST00000432791.1_Missense_Mutation_p.R392W	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	392						MLL1 complex	protein binding										TCACTGCACCTCAAGTTGGCT	0.453000													12	202					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47705111	47705111	+	Silent	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:47705111T>A	ENST00000397708.1	-	2	344	c.90A>T	c.(88-90)ccA>ccT	p.P30P	MCM3AP_ENST00000291688.1_Silent_p.P30P			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	30					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAATCGAAATGGCGGCTTAG	0.468000													6	36					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69995881	69995881	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:69995881G>T	ENST00000355303.5	+	12	1629	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	ANO1_ENST00000531349.1_Missense_Mutation_p.G177C|ANO1_ENST00000398543.2_Missense_Mutation_p.G326C|ANO1_ENST00000538023.1_Missense_Mutation_p.G442C|ANO1_ENST00000530676.1_Missense_Mutation_p.G326C|ANO1_ENST00000316296.5_Missense_Mutation_p.G414C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	442					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						GGACCTCACGGGCTTTGAAGA	0.602000													3	38					0.004672	0.00521641	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072683	17072683	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:17072683G>T	ENST00000359963.3	-	1	1017	c.758C>A	c.(757-759)cCa>cAa	p.P253Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	253					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGTGCATTTGGATGGGCAGG	0.512000													13	122					4.3838e-07	6.4174e-07	1	1	0
HTRA4	203100	broad.mit.edu	37	8	38835598	38835598	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:38835598C>A	ENST00000302495.4	+	4	998	c.898C>A	c.(898-900)Cga>Aga	p.R300R		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	300	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CACCAAACAGCGAGGGGGCAA	0.498000													6	55					0.0215528	0.0229925	1	1	0
RHBDF1	64285	broad.mit.edu	37	16	112582	112582	+	Missense_Mutation	SNP	C	C	A	rs145812966		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:112582C>A	ENST00000262316.6	-	7	1049	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	RHBDF1_ENST00000454039.2_Missense_Mutation_p.G303C	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	303					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGGGCCCCGCCGGTGAGGTCC	0.662000													43	215					6.45866e-13	1.18596e-12	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153225598	153225598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153225598G>T	ENST00000310441.7	-	8	2065	c.1099C>A	c.(1099-1101)Cca>Aca	p.P367T	HCFC1_ENST00000369984.4_Missense_Mutation_p.P367T|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.P367T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	367					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCGGGCTGGGGGTGGTGGC	0.622000													6	29					2.0095e-06	2.77954e-06	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31092735	31092735	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:31092735A>T	ENST00000394979.2	+	1	5513	c.5090A>T	c.(5089-5091)aAg>aTg	p.K1697M	ZNF646_ENST00000300850.5_Missense_Mutation_p.K1697M			O15015	ZN646_HUMAN	zinc finger protein 646	1697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AACCACCAGAAGGCCCACACC	0.637000													21	141					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78697426	78697426	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:78697426C>A	ENST00000504123.1	-	2	256	c.127_splice	c.e2+1	p.S42_splice	CNOT6L_ENST00000264903.4_Splice_Site_p.S42_splice|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	42					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TCCACTCACCCGAGATTTCTA	0.353000													6	40					8.12818e-05	0.000102723	1	1	0
CALB2	794	broad.mit.edu	37	16	71418737	71418737	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:71418737A>T	ENST00000302628.4	+	9	702	c.625A>T	c.(625-627)Aag>Tag	p.K209*	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	209	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				ATTTTACGACAAGGTAAGAGA	0.522000													19	99					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77077064	77077064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:77077064C>T	ENST00000579016.1	+	6	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	ENGASE_ENST00000539857.2_Missense_Mutation_p.R75W	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	261						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACAGCTGCACCGGCAGGTCCC	0.592000													6	41					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327052	57327052	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:57327052C>A	ENST00000326441.9	-	10	3121	c.2758G>T	c.(2758-2760)Ggc>Tgc	p.G920C	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G794C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G920C|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G796C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	920					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGAATTCGCCATCCTTCTTA	0.433000													16	53					9.16793e-09	1.45967e-08	1	1	0
MCM6	4175	broad.mit.edu	37	2	136602144	136602144	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:136602144C>G	ENST00000264156.2	-	16	2380	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	774					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ATAACTTTCTCTATGATTCTT	0.428000													4	36					0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631604	241631604	+	Silent	SNP	G	G	T	rs151095143		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:241631604G>T	ENST00000429564.1	+	2	336	c.273G>T	c.(271-273)tcG>tcT	p.S91S	AQP12A_ENST00000337801.4_Silent_p.S79S			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	79						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		ACGGGGCCTCGGCCAACCCCA	0.682000													14	47					7.93312e-07	1.13917e-06	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121787144	121787144	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:121787144A>G	ENST00000261367.7	+	12	4171	c.2743A>G	c.(2743-2745)Atg>Gtg	p.M915V	CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.M868V|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.M502V|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.M426V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.M915V|SNCAIP_ENST00000414317.2_Missense_Mutation_p.M470V|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.M808V|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	868					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCGATCTATCATGGAGACACT	0.468000													6	64					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169021471	169021471	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:169021471G>A	ENST00000265295.4	+	6	1034	c.755G>A	c.(754-756)aGt>aAt	p.S252N	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GATCCCAATAGTAAAGGCAAC	0.358000													6	27					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394114	52394114	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:52394114C>A	ENST00000354957.3	-	5	1559	c.1275G>T	c.(1273-1275)acG>acT	p.T425T	ZNF649_ENST00000600738.1_Silent_p.T397T|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T425T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTCTCTCTCCCGTGTGAGTTC	0.433000													23	96					9.57634e-11	1.64926e-10	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321897	52321897	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:52321897C>A	ENST00000356297.4	-	17	2387	c.2287G>T	c.(2287-2289)Gcg>Tcg	p.A763S	PXDNL_ENST00000543296.1_Missense_Mutation_p.A763S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	763					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGCGGGGCGCGCGGATGCCG	0.786000													3	8					0.115264	0.119811	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228479688	228479688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:228479688G>A	ENST00000570156.2	+	44	11790	c.11716G>A	c.(11716-11718)Gcc>Acc	p.A3906T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A3477T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3477T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A596T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A596T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2324T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2944	Ig-like 40.				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	p.A3661S(1)|p.A3760S(1)|p.A3531S(1)|p.A3477S(1)		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)				GAGCAAGGTGGCCCCTGTGGA	0.602000													7	78					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72307196	72307196	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:72307196C>G	ENST00000263563.6	+	18	2524	c.2256C>G	c.(2254-2256)taC>taG	p.Y752*		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TCTGCACCTACCGCCAGGTGA	0.647000													4	36					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745332	140745332	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:140745332C>A	ENST00000518069.1	+	1	1435	c.1435C>A	c.(1435-1437)Ccc>Acc	p.P479T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCATGACCCCGACAGCGG	0.537000													33	187					6.84511e-11	1.18275e-10	1	1	0
NT5C2	22978	broad.mit.edu	37	10	104849608	104849608	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:104849608G>C	ENST00000343289.5	-	18	1594	c.1507C>G	c.(1507-1509)Cct>Gct	p.P503A	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.P474A|NT5C2_ENST00000404739.3_Missense_Mutation_p.P503A	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	503					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GTGGCAAGAGGAGACTCCATC	0.488000													9	34					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87479203	87479203	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:87479203G>C	ENST00000341119.5	-	6	671	c.325C>G	c.(325-327)Cct>Gct	p.P109A		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	109					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TACAGGGTAGGAGGAAGGCCA	0.274000													3	17					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982940	92982940	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:92982940C>A	ENST00000523629.1	-	11	1939	c.1485G>T	c.(1483-1485)cgG>cgT	p.R495R	RUNX1T1_ENST00000520724.1_Silent_p.R458R|RUNX1T1_ENST00000360348.2_Silent_p.R458R|RUNX1T1_ENST00000396218.1_Silent_p.R468R|RUNX1T1_ENST00000436581.2_Silent_p.R506R|RUNX1T1_ENST00000422361.2_Silent_p.R458R|RUNX1T1_ENST00000518844.1_Silent_p.R468R|RUNX1T1_ENST00000265814.3_Silent_p.R495R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	495					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCGCCGCCTGCCGTTTGGCCT	0.572000													10	54					0.00621372	0.0069231	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143632349	143632349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:143632349G>T	ENST00000408955.2	+	1	91	c.24G>T	c.(22-24)tgG>tgT	p.W8C		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACCAGACGTGGGTGAGAGAAT	0.388000													7	81					0.0293803	0.0310912	1	1	0
OR2C3	81472	broad.mit.edu	37	1	247695441	247695441	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:247695441C>G	ENST00000366487.3	-	2	734	c.373G>C	c.(373-375)Gct>Cct	p.A125P	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAGATGGCAGCGTAGCGGTCA	0.562000													4	36					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26903894	26903894	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:26903894C>T	ENST00000231021.4	-	6	1023	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	284	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAGATGAGTTCCAAGAGGTAC	0.373000													10	76					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17450944	17450944	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:17450944G>T	ENST00000400588.1	-	4	933	c.826C>A	c.(826-828)Ccc>Acc	p.P276T	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	276										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCTGGCTGGGCTTGGAAAGG	0.572000													14	102					0.0167234	0.0180599	1	1	0
TTC30B	150737	broad.mit.edu	37	2	178417068	178417068	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:178417068T>A	ENST00000408939.2	-	1	674	c.424A>T	c.(424-426)Agg>Tgg	p.R142W		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	142					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCCCCTTCCCTACTCGGCAGC	0.607000													52	291					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64679625	64679625	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:64679625G>A	ENST00000357395.3	+	106	19257	c.8113G>A	c.(8113-8115)Gtg>Atg	p.V2705M	SYNE2_ENST00000358025.3_Missense_Mutation_p.V6320M|SYNE2_ENST00000555022.1_Missense_Mutation_p.V198M|SYNE2_ENST00000344113.4_Missense_Mutation_p.V6320M|SYNE2_ENST00000554805.1_Missense_Mutation_p.V103M|SYNE2_ENST00000555002.1_Missense_Mutation_p.V2954M|SYNE2_ENST00000554584.1_Missense_Mutation_p.V6279M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.V2705M			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6320					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)		CCTGGATGCTGTGCTGATTGA	0.542000													7	70					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140905720	140905720	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:140905720C>T	ENST00000253811.6	-	26	3602	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q	DIAPH1_ENST00000520569.1_Silent_p.Q1096Q|DIAPH1_ENST00000518047.1_Silent_p.Q1141Q|DIAPH1_ENST00000398562.2_Silent_p.Q1129Q|DIAPH1_ENST00000389057.5_Silent_p.Q1144Q|DIAPH1_ENST00000389054.3_Silent_p.Q1150Q|DIAPH1_ENST00000398557.4_Silent_p.Q1153Q|DIAPH1_ENST00000398566.3_Silent_p.Q1145Q			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1153	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCCGCTTCTGGTTCTCCT	0.537000													14	83					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252358	124252358	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:124252358C>T	ENST00000375013.2	-	1	900	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTTTGACATCCTTGTTCCTCA	0.368000													8	52					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30021430	30021430	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:30021430C>A	ENST00000350119.4	-	2	304	c.114G>T	c.(112-114)cgG>cgT	p.R38R	DOC2A_ENST00000564979.1_Silent_p.R38R|DOC2A_ENST00000564944.1_Silent_p.R38R	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	38	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GTCCTGGTCCCCGGGGGAAGT	0.716000													8	46					5.18039e-06	7.01817e-06	1	1	0
SERPINA4	5267	broad.mit.edu	37	14	95029849	95029849	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:95029849G>T	ENST00000557004.1	+	2	451	c.30G>T	c.(28-30)ctG>ctT	p.L10L	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.L10L|SERPINA4_ENST00000555095.1_Silent_p.L10L			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	10					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGCTCCTCCTGCTGGTTGGAC	0.552000													15	75					7.93312e-07	1.13917e-06	1	1	0
RPS6KA3	6197	broad.mit.edu	37	X	20185764	20185764	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:20185764C>A	ENST00000379565.3	-	17	1752	c.1545G>T	c.(1543-1545)gaG>gaT	p.E515D	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E486D|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E487D|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E485D|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	515	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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 serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CAGCACTGGCCTCTCGTTCAG	0.353000													7	101					0.00198382	0.00226784	1	1	0
WNT8A	7478	broad.mit.edu	37	5	137424671	137424671	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:137424671G>C	ENST00000506684.1	+	4	713	c.477G>C	c.(475-477)agG>agC	p.R159S	WNT8A_ENST00000398754.1_Missense_Mutation_p.R141S			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	141					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.R141R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGGGAAAGGATCTCCAAAC	0.517000													11	73					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96055150	96055150	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:96055150G>T	ENST00000297954.4	+	23	5514	c.5514G>T	c.(5512-5514)gtG>gtT	p.V1838V	WNK2_ENST00000349097.3_Silent_p.V1450V|WNK2_ENST00000395477.2_Silent_p.V1801V|WNK2_ENST00000427277.2_Silent_p.V1413V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.V165V			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1838					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AGGTCGGCGTGGGCGAGCCCG	0.741000													4	5					0.150653	0.154464	1	1	0
NKAP	79576	broad.mit.edu	37	X	119077333	119077333	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:119077333C>A	ENST00000371410.3	-	1	402	c.236G>T	c.(235-237)cGt>cTt	p.R79L		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	79	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCTAGAACGCGACCGCGA	0.657000													6	44					0.00116845	0.00135932	1	1	0
VIP	7432	broad.mit.edu	37	6	153073415	153073415	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:153073415C>T	ENST00000367244.3	+	2	275	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F	VIP_ENST00000367243.3_Missense_Mutation_p.L35F	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	35					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACCTTCTGCTCTCAGGTAAGT	0.428000													7	23					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24105517	24105517	+	Silent	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:24105517G>C	ENST00000303531.7	+	7	872	c.720G>C	c.(718-720)ctG>ctC	p.L240L	PRKCB_ENST00000321728.7_Silent_p.L240L|PRKCB_ENST00000482000.1_3'UTR	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	240	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ACAGAAGACTGTCAGTAGAGA	0.408000													7	36					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202194549	202194549	+	Splice_Site	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:202194549A>G	ENST00000367278.3	+	2	301		c.e2-1		LGR6_ENST00000255432.7_Splice_Site|LGR6_ENST00000439764.2_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6							integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTCCACCAGGGACCTCAG	0.597000													13	88					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29688515	29688515	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:29688515G>T	ENST00000397938.2	+	11	1403	c.1084G>T	c.(1084-1086)Gca>Tca	p.A362S	EWSR1_ENST00000331029.7_Missense_Mutation_p.A324S|EWSR1_ENST00000414183.2_Missense_Mutation_p.A367S|EWSR1_ENST00000406548.1_Missense_Mutation_p.A361S|EWSR1_ENST00000332050.6_Missense_Mutation_p.A289S|EWSR1_ENST00000332035.6_Missense_Mutation_p.A306S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	362	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGACAACAGTGCAATTTATGT	0.403000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								8	55					0.00307968	0.00348281	1	1	0
TSPAN7	7102	broad.mit.edu	37	X	38420813	38420813	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:38420813G>C	ENST00000378482.2	+	1	191	c.14G>C	c.(13-15)aGa>aCa	p.R5T	TM4SF2_ENST00000465127.1_Intron|TSPAN7_ENST00000286824.6_Missense_Mutation_p.R5T|TSPAN7_ENST00000545599.1_5'UTR|TSPAN7_ENST00000422612.2_5'UTR	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	5					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCATCGAGGAGAATGGAGACC	0.697000													7	39					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120188591	120188591	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:120188591G>T	ENST00000450251.1	+	9	1633	c.1089G>T	c.(1087-1089)agG>agT	p.R363S	USP53_ENST00000274030.6_Missense_Mutation_p.R363S			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	363					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATGCACTCAGGCAGGTCATCA	0.383000													3	29					6.4e-05	8.12902e-05	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31682737	31682737	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:31682737G>A	ENST00000319386.3	+	11	2302	c.1309G>A	c.(1309-1311)Gga>Aga	p.G437R	CCDC129_ENST00000451887.2_Missense_Mutation_p.G611R|CCDC129_ENST00000407970.3_Missense_Mutation_p.G585R|CCDC129_ENST00000409210.1_Missense_Mutation_p.G493R			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	585										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAGGCCTGAGGGAGCTGGCAA	0.498000													10	107					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153524334	153524334	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153524334C>A	ENST00000369915.3	+	1	311	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	41					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.S41F(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCACATGCTCCACGAGCTCC	0.622000													23	179					1.50039e-11	2.65338e-11	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	43					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37144833	37144833	+	Splice_Site	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:37144833A>T	ENST00000262879.6	+	7	1156		c.e7-1		RALGAPB_ENST00000397038.1_Splice_Site|RALGAPB_ENST00000397042.3_Splice_Site|RALGAPB_ENST00000397040.1_Splice_Site|RALGAPB_ENST00000537204.1_Splice_Site			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTCTTTTAATAGTAATCCTGT	0.333000													10	37					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216180	55216180	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:55216180G>T	ENST00000340465.2	+	5	586	c.500G>T	c.(499-501)tGc>tTc	p.C167F		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	167						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAACAGTGCCAAGCAGCC	0.448000													24	134					2.89027e-11	5.07724e-11	1	1	0
KEL	3792	broad.mit.edu	37	7	142651023	142651023	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:142651023G>T	ENST00000355265.2	-	9	1419	c.945C>A	c.(943-945)gaC>gaA	p.D315E	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	315					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGACAACCAGTCGATGGCGG	0.522000													24	117					2.21704e-12	4.02889e-12	1	1	0
VGLL3	389136	broad.mit.edu	37	3	87027793	87027793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:87027793C>A	ENST00000398399.2	-	2	649	c.286G>T	c.(286-288)Gga>Tga	p.G96*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.G96*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CCAATGTCTCCCTGGAAATAA	0.507000													6	75					0.0215528	0.0229925	1	1	0
GBP4	115361	broad.mit.edu	37	1	89655810	89655810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:89655810C>A	ENST00000355754.6	-	7	1205	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	370						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTGCATGCACGTCCAGCAGC	0.557000													10	75					0.000673444	0.000792199	1	1	0
GLIS3	169792	broad.mit.edu	37	9	4118739	4118739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:4118739C>A	ENST00000324333.10	-	3	467	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	GLIS3_ENST00000381971.3_Missense_Mutation_p.D247Y	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	92	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCCCTAGATCAAGGCCATTC	0.547000													13	110					4.93089e-13	9.11782e-13	1	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127468	32127468	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:32127468A>C	ENST00000335093.3	-	1	278	c.229T>G	c.(229-231)Tct>Gct	p.S77A		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	77						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						TAGCAGGAAGAATAGCATCTT	0.443000													21	123					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003872	50003872	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:50003872G>T	ENST00000335238.4	-	1	199	c.166C>A	c.(166-168)Ccc>Acc	p.P56T		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGTACATGGGGGAGCTCAGA	0.413000													5	32					0.014758	0.016003	1	1	0
USP31	57478	broad.mit.edu	37	16	23080040	23080040	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:23080040G>C	ENST00000219689.7	-	16	3385	c.3386C>G	c.(3385-3387)tCt>tGt	p.S1129C	USP31_ENST00000567975.1_Missense_Mutation_p.S422C	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1129	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTTTTTGGCAGATGTGGAGGA	0.567000													17	113					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49079435	49079435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:49079435G>A	ENST00000376265.2	-	15	2132	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.R626*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R680*|CACNA1F_ENST00000480889.1_5'UTR	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	691					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AAGGTGCTTCGCTTGGTGTGG	0.552000													4	15					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158621215	158621215	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:158621215A>T	ENST00000368148.3	-	24	3599	c.3419T>A	c.(3418-3420)gTa>gAa	p.V1140E	SPTA1_ENST00000368147.3_Missense_Mutation_p.V1140E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1140					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCATCAGCTACCTTGTTGAT	0.448000													7	97					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79556327	79556327	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:79556327C>A	ENST00000372391.2	-	28	5195	c.5190G>T	c.(5188-5190)cgG>cgT	p.R1730R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.R1390R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1730	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTTCTGGACCCGCTGATAGG	0.622000													9	56					7.48243e-07	1.08629e-06	1	1	0
KIAA0391	9692	broad.mit.edu	37	14	35739664	35739664	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:35739664G>T	ENST00000557565.1	+	7	1863	c.1482G>T	c.(1480-1482)agG>agT	p.R494S	KIAA0391_ENST00000604948.1_Missense_Mutation_p.R399S|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R122S|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R478S|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R494S|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R478S|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R399S			O15091	MRRP3_HUMAN	KIAA0391	494					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ATCACTGCAGGTTTATCACAA	0.522000													13	71					7.03913e-09	1.13098e-08	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47402097	47402097	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:47402097T>G	ENST00000285039.7	-	26	3796	c.3497A>C	c.(3496-3498)cAg>cCg	p.Q1166P	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.Q307P	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1166					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTCTCCAGCTGCACTTGCAG	0.527000													13	140					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539224	153539224	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153539224T>A	ENST00000369915.3	+	4	577	c.388T>A	c.(388-390)Tca>Aca	p.S130T	TKTL1_ENST00000369912.2_Missense_Mutation_p.S74T|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	130					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCGAGTCCTCAGAAGGCTC	0.537000													9	96					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109815630	109815630	+	Silent	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:109815630C>G	ENST00000271332.3	+	31	8380	c.8319C>G	c.(8317-8319)ccC>ccG	p.P2773P	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2773					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGAGACTGCCCCTGCACAGTA	0.652000													7	29					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7858635	7858635	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:7858635T>C	ENST00000377532.3	+	6	919	c.695T>C	c.(694-696)aTc>aCc	p.I232T	PER3_ENST00000361923.2_Missense_Mutation_p.I231T|PER3_ENST00000377541.1_Missense_Mutation_p.I231T			P56645	PER3_HUMAN	period circadian clock 3	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCGGATCATCCCCTATCTG	0.488000													7	59					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013264	149013264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:149013264C>A	ENST00000535454.1	+	4	767	c.218C>A	c.(217-219)aCt>aAt	p.T73N	MAGEA8_ENST00000542674.1_Missense_Mutation_p.T73N|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.T73N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	73										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCCCTGACTGTCACCGAC	0.597000													11	101					1.58986e-06	2.23429e-06	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319112	21319112	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:21319112A>T	ENST00000583088.1	+	3	1353	c.458A>T	c.(457-459)gAg>gTg	p.E153V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E153V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGTGTGACGGAGGAGTGCCCG	0.617000										Prostate(3;0.18)			8	66					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3214963	3214963	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:3214963C>G	ENST00000356443.4	-	2	592	c.259G>C	c.(259-261)Gcc>Ccc	p.A87P	MYOM1_ENST00000261606.7_Missense_Mutation_p.A87P|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.A87P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	87						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TAGGCTGAGGCTGCCTTCCGA	0.652000													6	30					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171077258	171077258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:171077258G>T	ENST00000367755.4	+	5	634	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	FMO3_ENST00000542847.1_Missense_Mutation_p.D155Y|FMO3_ENST00000538429.1_Missense_Mutation_p.D112Y|FMO3_ENST00000392085.2_Missense_Mutation_p.D175Y	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	175					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCACAGCAGGGACTATAAAGA	0.438000													17	82					4.14922e-12	7.48848e-12	1	1	0
MRPL3	11222	broad.mit.edu	37	3	131221616	131221616	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:131221616C>A	ENST00000264995.3	-	1	197	c.50G>T	c.(49-51)cGa>cTa	p.R17L	MRPL3_ENST00000425847.2_Missense_Mutation_p.R17L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	17					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTCCCCGAGTCGACCCAGCAC	0.672000													8	42					0.000442599	0.000530113	1	1	0
DNAJB9	4189	broad.mit.edu	37	7	108213775	108213775	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:108213775A>G	ENST00000249356.3	+	3	1196	c.650A>G	c.(649-651)tAc>tGc	p.Y217C	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	217					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GTTACTACATACACTGACTGT	0.378000													5	29					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104164427	104164427	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:104164427G>A	ENST00000020673.5	-	15	3139	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F	PSD_ENST00000406432.1_Silent_p.F871F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	871					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGCGCAGAGAACATAGCGG	0.617000													17	140					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126738321	126738321	+	Silent	SNP	G	G	T	rs139531628		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:126738321G>T	ENST00000274473.6	+	9	1131	c.864G>T	c.(862-864)acG>acT	p.T288T	MEGF10_ENST00000418761.2_Silent_p.T288T|MEGF10_ENST00000508365.1_Silent_p.T288T|MEGF10_ENST00000503335.2_Silent_p.T288T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	288	EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGGAGGGACGTGTGATGCTG	0.502000													9	64					1.58986e-06	2.23429e-06	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95550546	95550546	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:95550546C>A	ENST00000297591.5	-	3	283	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D70Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D70Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	70					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAGAATAAGTCTAATTGAAAT	0.353000													6	41					0.0293803	0.0310912	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64320996	64320996	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:64320996C>A	ENST00000453638.2	+	1	63	c.63C>A	c.(61-63)ggC>ggA	p.G21G																	endometrium(2)|lung(1)|urinary_tract(1)	4						gtggctatggctctggttatg	0.517000													6	27					0.00198382	0.00226784	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64673873	64673873	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:64673873T>A	ENST00000421419.2	-	21	3230	c.3116A>T	c.(3115-3117)cAg>cTg	p.Q1039L	ATG2A_ENST00000377264.3_Missense_Mutation_p.Q1039L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1039							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCCCCGGCCCTGGCCCTTGCG	0.657000													16	65					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423396	47423396	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:47423396C>T	ENST00000361866.3	+	35	2670	c.2556C>T	c.(2554-2556)gcC>gcT	p.A852A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	852	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGCGCTTCGCCAAGCGCCTGG	0.706000													6	34					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132372	59132372	+	Silent	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:59132372G>C	ENST00000313940.2	+	1	488	c.441G>C	c.(439-441)ctG>ctC	p.L147L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						GGATGGTACTGGGAGCCTACA	0.468000													9	93					0	0	1	0	0
C14orf183	196913	broad.mit.edu	37	14	50558325	50558325	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:50558325C>A	ENST00000305273.1	-	2	242	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	81										endometrium(2)|large_intestine(2)|lung(3)	7						GAGCAGCAACCTCTGGGTGAT	0.552000													5	53					1.23904e-05	1.63653e-05	1	1	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869296	31869296	+	Nonsense_Mutation	SNP	C	C	A	rs143183316	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:31869296C>A	ENST00000334058.2	-	1	155	c.133G>T	c.(133-135)Gga>Tga	p.G45*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	45						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TAGCCATATCCGTTGCCTCCA	0.522000													22	173					1.96895e-08	3.05187e-08	1	1	0
TLR7	51284	broad.mit.edu	37	X	12906277	12906277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:12906277C>A	ENST00000380659.3	+	3	2789	c.2650C>A	c.(2650-2652)Cta>Ata	p.L884I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	884					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTATCAGCGTCTAATATCACC	0.443000													29	112					3.73808e-20	7.24253e-20	1	1	0
WWC3	55841	broad.mit.edu	37	X	10106947	10106947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:10106947C>A	ENST00000380861.4	+	21	3446	c.3055C>A	c.(3055-3057)Cgt>Agt	p.R1019S	WWC3_ENST00000454666.1_Missense_Mutation_p.R1019S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1019										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGAGCGGCTCCGTGGCCTGCT	0.726000													3	25					0.150653	0.154464	1	1	0
IGHV3-16	28447	broad.mit.edu	37	14	106622284	106622284	+	RNA	SNP	G	G	T	rs112834475	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:106622284G>T	ENST00000390604.2	-	0	120																											AATATCCTTAGTTCTCCATGA	0.433000													5	99					1.23904e-05	1.63653e-05	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38885030	38885030	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:38885030G>T	ENST00000359357.3	+	67	9759	c.9505G>T	c.(9505-9507)Gat>Tat	p.D3169Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.D3133Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3386Y					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						CAAGCCAAATGATATTGCCAC	0.308000													8	42					5.4927e-09	8.90663e-09	1	1	0
TIMELESS	8914	broad.mit.edu	37	12	56817240	56817240	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:56817240C>A	ENST00000229201.4	-	18	2261	c.2107G>T	c.(2107-2109)Gtt>Ttt	p.V703F	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.V704F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	704					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TAGGCTCGAACGACAGTTGAA	0.512000													8	43					0.000274275	0.000333048	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118112367	118112367	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:118112367C>A	ENST00000422289.2	+	0	674				LONRF3_ENST00000365713.2_Missense_Mutation_p.H293N|LONRF3_ENST00000371628.3_Missense_Mutation_p.H293N|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.H293N			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3						proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTTGGAGTCTCATGAGAATGC	0.438000													9	42					0.000442599	0.000530113	1	1	0
NFRKB	4798	broad.mit.edu	37	11	129748437	129748437	+	Splice_Site	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:129748437G>A	ENST00000446488.3	-	13	1489	c.1384_splice	c.e13-1	p.G462_splice	NFRKB_ENST00000524794.1_Splice_Site_p.G487_splice|NFRKB_ENST00000524746.1_Splice_Site_p.G462_splice|NFRKB_ENST00000304521.5_Splice_Site_p.G462_splice	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	462					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTTGGGATTGGCCTATTAGAG	0.363000													12	67					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429309	135429309	+	Silent	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:135429309T>A	ENST00000394143.1	+	6	3735	c.3444T>A	c.(3442-3444)ccT>ccA	p.P1148P	GPR112_ENST00000412101.1_Silent_p.P943P|GPR112_ENST00000394141.1_Silent_p.P943P|GPR112_ENST00000370652.1_Silent_p.P1148P|GPR112_ENST00000287534.4_Silent_p.P1085P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1148					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)					GCTCAAAACCTCCCCCTGACA	0.483000													12	108					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100615599	100615599	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:100615599C>G	ENST00000308731.7	-	8	896	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	BTK_ENST00000372880.1_Missense_Mutation_p.E245Q	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	245	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGCTTTCCTCCAAGATAAAA	0.478000									Agammaglobulinemia, X-linked				10	75					0	0	1	0	0
RBM18	92400	broad.mit.edu	37	9	125007557	125007557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:125007557C>A	ENST00000417201.3	-	5	531	c.391G>T	c.(391-393)Gag>Tag	p.E131*	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	131							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGAGTAGGCTCAGTGCTTGAG	0.373000													8	58					0.000157383	0.000196078	1	1	0
GPR174	84636	broad.mit.edu	37	X	78426604	78426604	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:78426604C>A	ENST00000276077.1	+	1	136	c.100C>A	c.(100-102)Ctc>Atc	p.L34I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGTGCCAGGTCTCATAGGGAA	0.383000										HNSCC(63;0.18)			4	19					0.00024832	0.000304336	1	1	0
TFEB	7942	broad.mit.edu	37	6	41658498	41658498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:41658498C>A	ENST00000394283.1	-	3	1597	c.371G>T	c.(370-372)gGg>gTg	p.G124V	TFEB_ENST00000230323.4_Missense_Mutation_p.G124V|TFEB_ENST00000358871.2_Missense_Mutation_p.G138V|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000373033.1_Missense_Mutation_p.G124V|TFEB_ENST00000403298.4_Missense_Mutation_p.G124V			P19484	TFEB_HUMAN	transcription factor EB	124				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGCTCGCACCCCTGGGGAGGC	0.637000			T	ALPHA	renal (childhood epithelioid)								9	46					2.74318e-10	4.58938e-10	1	1	0
AIFM1	9131	broad.mit.edu	37	X	129272642	129272642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:129272642C>A	ENST00000287295.3	-	9	1123	c.893G>T	c.(892-894)cGg>cTg	p.R298L	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.R294L|AIFM1_ENST00000535724.1_Missense_Mutation_p.R211L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	298	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TTTGACTTCCCGTGAAATCTT	0.433000													8	61					0.307466	0.310411	1	1	0
MRPL3	11222	broad.mit.edu	37	3	131221617	131221617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:131221617G>A	ENST00000264995.3	-	1	196	c.49C>T	c.(49-51)Cga>Tga	p.R17*	MRPL3_ENST00000425847.2_Nonsense_Mutation_p.R17*	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	17					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCCCGAGTCGACCCAGCACC	0.672000													8	42					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878409	5878409	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:5878409C>A	ENST00000537935.1	-	1	555	c.524G>T	c.(523-525)tGt>tTt	p.C175F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGATGCCCACAGAAGGGCAG	0.517000													10	109					2.17888e-05	2.84225e-05	1	1	0
IGLV3-21	28796	broad.mit.edu	37	22	23055665	23055665	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:23055665G>T	ENST00000390308.2	+	0	579																											TCAGGTGTGGGATAGTAGTAG	0.587000													4	29					0.00024832	0.000304336	1	1	0
GPR179	440435	broad.mit.edu	37	17	36485145	36485145	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:36485145C>T	ENST00000342292.4	-	11	4327	c.4307G>A	c.(4306-4308)cGg>cAg	p.R1436Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1436						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAGGGGCCCCGGAAATCTGT	0.527000													9	87					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55441930	55441930	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:55441930G>A	ENST00000398661.2	-	2	275	c.144C>T	c.(142-144)ccC>ccT	p.P48P	HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000358072.5_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	48							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			cagagacatcgggctgaaagc	0.458000													3	11					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278468	114278468	+	Silent	SNP	T	T	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:114278468T>C	ENST00000357077.4	+	38	8747	c.8694T>C	c.(8692-8694)acT>acC	p.T2898T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T2865T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2865					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCCATTACTACTCAAACAG	0.393000													11	101					0	0	1	0	0
C4orf51	646603	broad.mit.edu	37	4	146617763	146617763	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:146617763C>A	ENST00000438731.1	+	2	286	c.286C>A	c.(286-288)Caa>Aaa	p.Q96K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	96										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GGCTGGTACCCAAGAGACTAC	0.408000													3	21					0.00024832	0.000304336	1	1	0
RNASE13	440163	broad.mit.edu	37	14	21502399	21502399	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:21502399G>T	ENST00000382951.3	-	2	186	c.49C>A	c.(49-51)Cca>Aca	p.P17T	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	17						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		ACCAGAGTTGGCCCCAGAACA	0.542000													10	40					9.70103e-10	1.60265e-09	1	1	0
FBXW9	84261	broad.mit.edu	37	19	12800190	12800190	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:12800190T>A	ENST00000380339.3	-	9	1424	c.1388A>T	c.(1387-1389)aAt>aTt	p.N463I	FBXW9_ENST00000544494.1_Missense_Mutation_p.N171I|FBXW9_ENST00000587955.1_Missense_Mutation_p.N453I|FBXW9_ENST00000393261.3_Missense_Mutation_p.N433I			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	463							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCTTACCCTATTGAGCCCATT	0.627000													6	40					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729433	89729433	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:89729433G>A	ENST00000343435.5	-	9	1884	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.R450W	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	450						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATTCCTTTCCGAGGCTCCCGA	0.428000													10	54					0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134136355	134136355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:134136355C>A	ENST00000372271.3	-	2	1073	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	FAM78A_ENST00000372269.3_Missense_Mutation_p.A233S|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	236										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGTCCTGGGCGATGGGCTCC	0.667000													10	106					1.58986e-06	2.23429e-06	1	1	0
NES	10763	broad.mit.edu	37	1	156643271	156643271	+	Silent	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:156643271G>C	ENST00000368223.3	-	3	1089	c.957C>G	c.(955-957)ggC>ggG	p.G319G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	319	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGTCTTGGAGCCACCGCCAG	0.602000													20	54					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653198	159653198	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:159653198T>A	ENST00000297267.9	+	11	1854	c.1654T>A	c.(1654-1656)Tcg>Acg	p.S552T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S489T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	552						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)		CCGGGAGGACTCGCCCATGTC	0.632000													5	21					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052797	97052797	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:97052797C>T	ENST00000326771.2	+	4	711	c.331C>T	c.(331-333)Cct>Tct	p.P111S	FHL5_ENST00000541107.1_Missense_Mutation_p.P111S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	111	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GACCATCATGCCTGGTAGGGT	0.537000													9	41					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832709	150832709	+	Missense_Mutation	SNP	G	G	T	rs72349307		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:150832709G>T	ENST00000370357.4	+	11	1205	c.960G>T	c.(958-960)atG>atT	p.M320I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	320						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCCAATGGACCAGCAGG	0.617000													18	90					7.81268e-19	1.50266e-18	1	1	0
EPG5	57724	broad.mit.edu	37	18	43514917	43514917	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:43514917C>A	ENST00000282041.5	-	11	2149	c.2115G>T	c.(2113-2115)ctG>ctT	p.L705L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	705					autophagy			p.L705L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGGACATAAACAGCCAAATGC	0.443000													4	40					0.00024832	0.000304336	1	1	0
EPHB4	2050	broad.mit.edu	37	7	100417907	100417907	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:100417907C>A	ENST00000358173.3	-	5	1288	c.820G>T	c.(820-822)Ggc>Tgc	p.G274C	EPHB4_ENST00000360620.3_Missense_Mutation_p.G274C|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	274	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G274S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTGAAGGTGCCCTGGGCACAG	0.582000													23	157					5.26018e-13	9.69271e-13	1	1	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409350	35409350	+	RNA	SNP	T	T	C	rs116094891	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:35409350T>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							ACATTGGAAATATGGAGCATT	0.458000													5	68					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452667	102452667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:102452667G>A	ENST00000360184.4	+	8	2269	c.2105G>A	c.(2104-2106)tGg>tAg	p.W702*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	702	Interaction with DYNC1I2 (By similarity).|Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGATGACTGGGCAAGGAAG	0.567000													6	43					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081177	7081177	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:7081177C>A	ENST00000299481.4	+	9	3032	c.2686C>A	c.(2686-2688)Ctt>Att	p.L896I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	896					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCAACTTCTCTTCTACACAA	0.453000													12	56					3.07112e-06	4.21479e-06	1	1	0
GPR125	166647	broad.mit.edu	37	4	22437041	22437041	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:22437041C>A	ENST00000334304.5	-	10	1605	c.1336G>T	c.(1336-1338)Gct>Tct	p.A446S	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.A220S|GPR125_ENST00000502482.1_Missense_Mutation_p.A446S	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	446					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACAGTGTAAGCCAGTAACTGT	0.383000													4	32					0.150653	0.154464	1	1	0
DGKI	9162	broad.mit.edu	37	7	137150682	137150682	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:137150682G>A	ENST00000453654.1	-	27	2277	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S	DGKI_ENST00000288490.5_Missense_Mutation_p.P870S|DGKI_ENST00000424189.2_Missense_Mutation_p.P883S|DGKI_ENST00000446122.1_Missense_Mutation_p.P852S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	870					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCAGGTCAGGCATGCCCGGA	0.547000													7	65					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432879	30432879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:30432879G>T	ENST00000375978.3	-	1	541	c.467C>A	c.(466-468)cCa>cAa	p.P156Q		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	156					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGCAGCTCTGGTGGGAATGA	0.692000													3	32					0.00909568	0.00996554	1	1	0
NEB	4703	broad.mit.edu	37	2	152534389	152534389	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:152534389C>A	ENST00000427231.2	-	33	3770		c.e33+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000604864.1_Splice_Site	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGACACTTACATCACTCTGT	0.458000													8	46					0.00448238	0.00503671	1	1	0
NCAN	1463	broad.mit.edu	37	19	19329795	19329795	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:19329795G>T	ENST00000252575.5	+	3	188	c.145G>T	c.(145-147)Gct>Tct	p.A49S		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	49	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GTCAGTGCAGGCTGCGCTGGC	0.642000													12	35					5.50884e-06	7.40601e-06	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55139798	55139798	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:55139798C>T	ENST00000257290.5	+	10	1790	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	487	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CGTGGAGGGCCGTGTGACTTT	0.527000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	72					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99006078	99006078	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:99006078C>A	ENST00000453547.2	-	7	943	c.944G>T	c.(943-945)cGg>cTg	p.R315L	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R306L|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R286L|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R306L|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.R315L|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R315L																							CGCACACTCCCGAATGTAAGC	0.433000													3	19					0.00909568	0.00996554	1	1	0
WDR49	151790	broad.mit.edu	37	3	167245634	167245634	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:167245634T>G	ENST00000308378.3	-	11	1827	c.1522A>C	c.(1522-1524)Aat>Cat	p.N508H	WDR49_ENST00000476376.1_Missense_Mutation_p.N333H|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	508										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAGGAGCATTGCAGACACCA	0.393000													5	27					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19566812	19566812	+	Splice_Site	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:19566812G>T	ENST00000176643.6	+	7	1553	c.1107_splice	c.e7+1	p.K369_splice	ALDH3A2_ENST00000571163.1_Splice_Site_p.K42_splice|ALDH3A2_ENST00000395575.2_Splice_Site_p.K369_splice|ALDH3A2_ENST00000581518.1_Splice_Site_p.K369_splice|ALDH3A2_ENST00000339618.4_Splice_Site_p.K369_splice|ALDH3A2_ENST00000579855.1_Splice_Site_p.K369_splice			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	369					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	ATAACCATAAGGTAAGCTTTA	0.353000													4	18					0.150653	0.154464	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62288538	62288538	+	Missense_Mutation	SNP	C	C	T	rs139937846		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:62288538C>T	ENST00000378024.4	-	5	13625	c.13351G>A	c.(13351-13353)Gag>Aag	p.E4451K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4451					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)				ATGTTCATCTCAGGCATCTTA	0.433000													13	101					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129055266	129055266	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:129055266G>A	ENST00000394422.3	+	11	1079	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	UTP14A_ENST00000371051.5_Missense_Mutation_p.E297K|UTP14A_ENST00000425117.2_Missense_Mutation_p.E299K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E183K|UTP14A_ENST00000498179.1_3'UTR|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	351					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GGGAGGCACAGAAGATGTGGA	0.517000													11	70					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364834	22364834	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:22364834C>T	ENST00000263160.3	+	3	818	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	127					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGGGATGATCCACGGTTCCT	0.542000													16	85					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54689014	54689014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:54689014G>C	ENST00000540264.2	-	1	528	c.19C>G	c.(19-21)Cag>Gag	p.Q7E	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.Q7E|NFE2_ENST00000312156.4_Missense_Mutation_p.Q7E|NFE2_ENST00000435572.2_Missense_Mutation_p.Q7E			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	7	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTGCTCTGCTGGGGAGGACAC	0.552000													9	43					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032270	30032270	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:30032270A>T	ENST00000328224.6	-	2	3189	c.1956T>A	c.(1954-1956)gaT>gaA	p.D652E		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	652						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						AGATTCACACATCAGTCTCCA	0.428000													6	36					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27156157	27156157	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:27156157C>A	ENST00000288699.6	+	7	904	c.746C>A	c.(745-747)tCc>tAc	p.S249Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.S249Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	249					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAACGTGTCCAGTATCTCG	0.498000													12	53					5.16669e-11	8.95672e-11	1	1	0
TRIM25	7706	broad.mit.edu	37	17	54969300	54969300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:54969300C>A	ENST00000316881.4	-	9	1703	c.1654G>T	c.(1654-1656)Gag>Tag	p.E552*	TRIM25_ENST00000537230.1_Nonsense_Mutation_p.E552*	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	552	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TTGAACCACTCCACGCACCAG	0.597000													10	97					3.86212e-05	4.96424e-05	1	1	0
CABP2	51475	broad.mit.edu	37	11	67287401	67287401	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:67287401T>C	ENST00000294288.4	-	6	569	c.500A>G	c.(499-501)aAt>aGt	p.N167S	CABP2_ENST00000353903.5_Missense_Mutation_p.N110S	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	167	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GCCGTCCCCATTGGTGTCGAA	0.692000													7	32					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173830352	173830352	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:173830352C>T	ENST00000264111.6	+	9	945	c.758C>T	c.(757-759)tCc>tTc	p.S253F	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.S101F|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.S101F|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.S83F|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.S34F|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.S254F|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.S254F|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.S110F			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	254	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGTGTTCACTCCCGGACTCAA	0.522000													12	69					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713766	19713766	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:19713766G>T	ENST00000284885.3	-	13	1561	c.1528C>A	c.(1528-1530)Cca>Aca	p.P510T		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	510					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACCAAAGTTGGTTCTGGATAA	0.398000													10	43					3.86212e-05	4.96424e-05	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157517374	157517374	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:157517374G>C	ENST00000346085.5	+	16	3939	c.3938G>C	c.(3937-3939)aGt>aCt	p.S1313T	ARID1B_ENST00000350026.5_Missense_Mutation_p.S1300T|ARID1B_ENST00000275248.4_Missense_Mutation_p.S1295T|ARID1B_ENST00000367148.1_Missense_Mutation_p.S1353T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1300					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAACCAAAGTCCCTCCGGA	0.483000													23	86					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812469	73812469	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:73812469T>A	ENST00000332687.6	-	4	899	c.681A>T	c.(679-681)agA>agT	p.R227S	RLIM_ENST00000349225.2_Missense_Mutation_p.R227S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	227					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGACCTACTTCTTTCAGCTC	0.478000													11	88					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16466460	16466460	+	Splice_Site	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:16466460C>T	ENST00000395824.1	-	5	1332	c.715_splice	c.e5+1	p.E239_splice	ZNF287_ENST00000395825.3_Splice_Site_p.E239_splice			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	232					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGTTTCTCACCTGGACTAGGG	0.378000													3	37					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18075527	18075527	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:18075527A>T	ENST00000205890.5	+	64	10611	c.10273A>T	c.(10273-10275)Agc>Tgc	p.S3425C	MYO15A_ENST00000418233.3_Missense_Mutation_p.S689C|MYO15A_ENST00000451725.2_Silent_p.A218A	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3425	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAGAGCTGCAGCAACATTGC	0.587000													8	53					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441496	111441496	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:111441496C>A	ENST00000265162.5	+	10	2043	c.1701C>A	c.(1699-1701)aaC>aaA	p.N567K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	567					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAAGAGCTAACCCTTCTCAGC	0.413000													8	47					0.000157383	0.000196078	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480384	140480384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:140480384G>T	ENST00000231130.2	+	1	151	c.151G>T	c.(151-153)Gat>Tat	p.D51Y	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		51	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTAGCAAAGGATCTGGGACT	0.502000													7	65					5.18039e-06	7.01817e-06	1	1	0
SLC17A9	63910	broad.mit.edu	37	20	61588824	61588824	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:61588824G>T	ENST00000370349.3	+	4	475	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.A97S			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	97					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTGCTGTCAGCCTCTGCCTG	0.632000													14	43					2.61681e-11	4.61225e-11	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36091370	36091370	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:36091370C>A	ENST00000378660.1	+	4	493	c.305C>A	c.(304-306)aCa>aAa	p.T102K	CHDC2_ENST00000313548.4_Missense_Mutation_p.T102K					calponin homology domain containing 2																		GAGGAAGGAACAAAGGCACAC	0.418000													10	61					2.17888e-05	2.84225e-05	1	1	0
DENND2A	27147	broad.mit.edu	37	7	140244378	140244378	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:140244378G>C	ENST00000492720.1	-	13	2613	c.2367C>G	c.(2365-2367)gaC>gaG	p.D789E	DENND2A_ENST00000537639.1_Intron|DENND2A_ENST00000496613.1_Intron|DENND2A_ENST00000275884.6_Intron			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	0	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AAGAGCGACTGTCATTCAAAC	0.527000													4	23					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353286	23353286	+	Silent	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:23353286C>G	ENST00000379361.4	+	1	1154	c.294C>G	c.(292-294)gtC>gtG	p.V98V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	98					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGGTCATCGTCACCTCCTTCC	0.642000													5	62					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160207	51160207	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:51160207G>A	ENST00000414786.2	+	21	4131	c.3904G>A	c.(3904-3906)Ggg>Agg	p.G1302R	SHANK3_ENST00000262795.3_Missense_Mutation_p.G1332R|SHANK3_ENST00000445220.2_Missense_Mutation_p.G1318R			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1332										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GTTTGCCAACGGGGTCCTGCT	0.701000													4	12					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35457543	35457543	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:35457543C>T	ENST00000378880.2	-	9	1686	c.1241G>A	c.(1240-1242)tGc>tAc	p.C414Y	PAMR1_ENST00000532848.1_Missense_Mutation_p.C374Y|PAMR1_ENST00000378878.3_Missense_Mutation_p.C303Y|PAMR1_ENST00000278360.3_Missense_Mutation_p.C431Y	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	414	Sushi 2.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGTGAGATGCACTCATACTG	0.577000													17	108					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21840288	21840288	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:21840288C>G	ENST00000434536.1	+	11	1371	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	XPO7_ENST00000433566.4_Missense_Mutation_p.I415M|XPO7_ENST00000252512.9_Missense_Mutation_p.I414M			Q9UIA9	XPO7_HUMAN	exportin 7	414				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AAGCCTACATCACATCCCGGT	0.532000													8	71					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053406	50053406	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:50053406A>T	ENST00000376042.1	+	6	2535	c.2237A>T	c.(2236-2238)cAa>cTa	p.Q746L	CCNB3_ENST00000276014.7_Missense_Mutation_p.Q746L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	746					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATACAGACACAATTATCTTTA	0.418000													3	34					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3430116	3430116	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:3430116G>T	ENST00000529482.1	+	0	2245																											CAGAGTCTCAGGGCAAATCCT	0.552000													3	28					0.00024832	0.000304336	1	1	0
OR5A2	219981	broad.mit.edu	37	11	59189872	59189872	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:59189872G>T	ENST00000302040.4	-	1	577	c.555C>A	c.(553-555)gtC>gtA	p.V185V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	185					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						ACAGAGCCAGGACTGGAGGGA	0.468000													3	34					0.000602214	0.000714791	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24426235	24426235	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:24426235G>A	ENST00000330966.7	-	6	756	c.594C>T	c.(592-594)cgC>cgT	p.R198R	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.R197R|MYOM3_ENST00000329601.7_Silent_p.R197R			Q5VTT5	MYOM3_HUMAN	myomesin 3	197	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACGAAAGAGGCGGGGATCAA	0.567000													6	65					0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33684034	33684034	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:33684034C>A	ENST00000399784.2	+	5	433	c.246C>A	c.(244-246)caC>caA	p.H82Q	MRAP_ENST00000399786.3_Intron|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Intron|MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000303645.5_Missense_Mutation_p.H82Q	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	82					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CCTGGAGTCACGGCCTCAACC	0.602000													7	101					2.17888e-05	2.84225e-05	1	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215294	118215294	+	Silent	SNP	C	C	T	rs144686516		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:118215294C>T	ENST00000369230.3	+	5	663	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	173					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)		GGGAGCACACCTGGCTGGGGA	0.413000													5	36					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149559178	149559178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:149559178G>T	ENST00000223210.4	+	7	3174	c.2929G>T	c.(2929-2931)Gag>Tag	p.E977*		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CAGGTATTTCGAGTGCTCCCT	0.537000													7	99					0.00307968	0.00348281	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39878739	39878739	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:39878739G>A	ENST00000303538.8	-	19	2566	c.2027C>T	c.(2026-2028)tCt>tTt	p.S676F		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	676					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGTCTCTGCAGAGTGGAACGA	0.358000													7	28					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154143326	154143326	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:154143326A>T	ENST00000404039.1	+	2	666	c.79A>T	c.(79-81)Agg>Tgg	p.R27W	DPP6_ENST00000377770.3_Missense_Mutation_p.R91W|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.R29W|DPP6_ENST00000427557.1_Missense_Mutation_p.R29W|DPP6_ENST00000406326.1_Missense_Mutation_p.R91W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	91					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCCTCCGCAGAGGAATTGGAA	0.423000													4	31					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511301	61511301	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:61511301C>T	ENST00000266070.4	-	16	6332	c.6007G>A	c.(6007-6009)Gag>Aag	p.E2003K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2003K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2003	Pro-rich.				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)					GGGGTCTGCTCATTTTTTTCA	0.622000													29	172					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123504900	123504900	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:123504900G>A	ENST00000392770.2	-	5	1401	c.599C>T	c.(598-600)gCc>gTc	p.A200V	SCN3B_ENST00000530277.1_Missense_Mutation_p.A200V|SCN3B_ENST00000299333.3_Missense_Mutation_p.A200V	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	200					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGATGGGATGGCAAGGTAGTC	0.542000													3	19					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600894	161600894	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:161600894C>T	ENST00000294800.3	-	0	264				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_De_novo_Start_OutOfFrame|FCGR3B_ENST00000367964.2_De_novo_Start_OutOfFrame|FCGR3B_ENST00000531221.1_Silent_p.Q33Q	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)						immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGATGCCACACTGGAGTGGAC	0.542000													4	32					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431633	56431633	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:56431633G>T	ENST00000302969.2	+	1	496	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GAGTTTAGTAGCCCACACTAC	0.512000													18	104					1.67942e-08	2.63408e-08	1	1	0
TAF1	6872	broad.mit.edu	37	X	70626589	70626589	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:70626589A>G	ENST00000449580.1	+	26	4148	c.4097A>G	c.(4096-4098)tAt>tGt	p.Y1366C	TAF1_ENST00000373790.4_Missense_Mutation_p.Y1366C|TAF1_ENST00000423759.1_Missense_Mutation_p.Y1387C|TAF1_ENST00000276072.3_Missense_Mutation_p.Y1387C			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1366	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACTGTGACTATTTGAATGTG	0.463000													8	27					0	0	1	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038501	110038501	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:110038501G>T	ENST00000420578.2	+	3	350	c.310G>T	c.(310-312)Gca>Tca	p.A104S	CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.A126S|CYB561D1_ENST00000528785.1_Missense_Mutation_p.A104S|CYB561D1_ENST00000393709.3_Missense_Mutation_p.A47S|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000496961.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	104	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CATCCTCTGTGCAGCTCTGGG	0.612000													23	162					1.96895e-08	3.05187e-08	1	1	0
ALDH3A1	218	broad.mit.edu	37	17	19646696	19646696	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:19646696C>A	ENST00000457500.2	-	2	572	c.243G>T	c.(241-243)tgG>tgT	p.W81C	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.W8C|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.W81C|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.W81C|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.W81C	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	81					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATCCGCGGCCCACTCAGGGA	0.597000													19	138					4.96729e-08	7.56579e-08	1	1	0
PPFIA3	8541	broad.mit.edu	37	19	49652861	49652861	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:49652861G>T	ENST00000334186.4	+	28	3761	c.3412G>T	c.(3412-3414)Gac>Tac	p.D1138Y	PPFIA3_ENST00000602351.1_Missense_Mutation_p.D1129Y	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1138						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCGGGAGAAGGACCTCCGAGG	0.642000													6	39					0.0215528	0.0229925	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212099	26212099	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:26212099C>A	ENST00000379034.1	+	2	285	c.136C>A	c.(136-138)Cgc>Agc	p.R46S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	46	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCCTCTTCTCGCGCTTGTCT	0.552000													6	84					0.217242	0.221017	1	1	0
ASTN1	460	broad.mit.edu	37	1	176863703	176863703	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:176863703G>T	ENST00000367654.2	-	17	2972	c.2959C>A	c.(2959-2961)Cag>Aag	p.Q987K	ASTN1_ENST00000361833.2_Missense_Mutation_p.Q979K|ASTN1_ENST00000424564.2_Missense_Mutation_p.Q979K|ASTN1_ENST00000367657.3_Missense_Mutation_p.Q979K			O14525	ASTN1_HUMAN	astrotactin 1	987					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTACCCTCTGGGTCTGGTTG	0.572000													6	57					5.9392e-07	8.67024e-07	1	1	0
MYH2	4620	broad.mit.edu	37	17	10428908	10428908	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:10428908C>G	ENST00000245503.5	-	32	4781	c.4397G>C	c.(4396-4398)tGt>tCt	p.C1466S	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.C1466S|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1466					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTTTCCTCACATTTCTGTTT	0.463000													4	37					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153136377	153136377	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153136377C>A	ENST00000370060.1	-	7	751	c.562G>T	c.(562-564)Ggc>Tgc	p.G188C	L1CAM_ENST00000370055.1_Missense_Mutation_p.G183C|L1CAM_ENST00000361699.4_Missense_Mutation_p.G188C|L1CAM_ENST00000361981.3_Missense_Mutation_p.G183C|L1CAM_ENST00000370057.3_Missense_Mutation_p.G188C|L1CAM_ENST00000543994.1_Missense_Mutation_p.G190C|L1CAM_ENST00000538883.1_Missense_Mutation_p.G190C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	188	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTCTGGCCCATCGTCACC	0.592000													14	143					0.105934	0.110549	1	1	0
SACS	26278	broad.mit.edu	37	13	23912106	23912106	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:23912106C>T	ENST00000382298.3	-	10	6497	c.5909G>A	c.(5908-5910)gGa>gAa	p.G1970E	SACS_ENST00000402364.1_Missense_Mutation_p.G1220E|SACS_ENST00000382292.3_Missense_Mutation_p.G1970E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1970					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTCCCTTTTCCATGAGCTAT	0.353000													4	30					0	0	1	0	0
CCT4	10575	broad.mit.edu	37	2	62103366	62103366	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:62103366C>T	ENST00000394440.3	-	8	1077	c.781G>A	c.(781-783)Gat>Aat	p.D261N	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Missense_Mutation_p.D111N|CCT4_ENST00000538252.1_Missense_Mutation_p.D205N|CCT4_ENST00000544079.1_Missense_Mutation_p.D231N|CCT4_ENST00000461540.2_5'UTR	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	261					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATTTGATTATCCATCTGTTCA	0.308000													5	37					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11532876	11532876	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:11532876C>G	ENST00000262442.3	+	7	1561	c.1493C>G	c.(1492-1494)tCc>tGc	p.S498C	DNAH9_ENST00000454412.2_Missense_Mutation_p.S498C|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	498	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATCCTCCTCCGACTGCCTG	0.542000													17	49					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416134	96416134	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:96416134G>C	ENST00000602402.1	+	9	1119	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	DNAJC3_ENST00000376795.6_Missense_Mutation_p.Q283H	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	334					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AAGTTTTACAGATGGAACCTG	0.388000													9	62					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128922016	128922016	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:128922016G>T	ENST00000356892.3	+	2	237	c.123G>T	c.(121-123)gtG>gtT	p.V41V	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	41										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCCCCGTGGTGAGCGAGAAGG	0.572000													11	82					4.84862e-15	9.12579e-15	1	1	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131439	66131439	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:66131439G>T	ENST00000590019.1	-	0	298																											TCGTCGCGCAGCTCCTTCCCA	0.637000													5	12					0.014758	0.016003	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	43					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749106	25749106	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:25749106G>T	ENST00000586223.1	+	0	1007					NR_033892.1																						GGATCCTCGGGCTCTGGTCCT	0.527000													3	10					0.115264	0.119811	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059611	248059611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:248059611C>A	ENST00000537741.1	+	3	980	c.723C>A	c.(721-723)tgC>tgA	p.C241*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.C241*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCGGCACCTGCGGCTCCCATC	0.522000													39	127					1.60099e-16	3.05695e-16	1	1	0
CAPN6	827	broad.mit.edu	37	X	110494160	110494160	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:110494160G>T	ENST00000324068.1	-	8	1310	c.1143C>A	c.(1141-1143)ttC>ttA	p.F381L	CAPN6_ENST00000541758.1_Missense_Mutation_p.F126L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	381	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GATTCTGCAGGAAGGTATCAC	0.468000													23	200					7.41877e-09	1.18836e-08	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25442595	25442595	+	RNA	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr15:25442595G>T	ENST00000424208.1	+	0	1571				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TCAGCCAGGTGCTTAGCCCCT	0.602000													12	57					2.80697e-09	4.56566e-09	1	1	0
MED13L	23389	broad.mit.edu	37	12	116457616	116457616	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:116457616C>T	ENST00000281928.3	-	6	993	c.787G>A	c.(787-789)Gat>Aat	p.D263N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	263					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGGAAATCATCATCATATCCC	0.373000													3	36					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22012939	22012939	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:22012939C>T	ENST00000306317.2	-	2	533	c.244G>A	c.(244-246)Gga>Aga	p.G82R	LGI3_ENST00000424267.2_Missense_Mutation_p.G82R	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	82					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GAGAACGCTCCATCCTGGATC	0.607000													15	138					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64939427	64939427	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:64939427C>A	ENST00000377185.2	+	3	295	c.213C>A	c.(211-213)gtC>gtA	p.V71V		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	71	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACAGTTTTGTCCAGGAATTCC	0.527000													5	31					0.014758	0.016003	1	1	0
TENM1	10178	broad.mit.edu	37	X	123838886	123838886	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:123838886G>C	ENST00000422452.2	-	5	1055	c.992C>G	c.(991-993)gCc>gGc	p.A331G	TENM1_ENST00000371130.3_Missense_Mutation_p.A331G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAGTAACAAGGCCAAAGTCAC	0.453000													14	115					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	46					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100222730	100222730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:100222730G>T	ENST00000355295.4	+	7	1421	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	TDRD7_ENST00000422139.2_Missense_Mutation_p.D302Y	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	376	Lotus/OST-HTH 3.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATTCCCTGAGGATGCCTTAAA	0.438000													11	24					9.70103e-10	1.60265e-09	1	1	0
BTK	695	broad.mit.edu	37	X	100617217	100617217	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:100617217C>A	ENST00000308731.7	-	7	695	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	BTK_ENST00000372880.1_Missense_Mutation_p.G178W	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	178					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGAGAACTCCCAGGTTTTAAG	0.493000									Agammaglobulinemia, X-linked				5	71					0.00116845	0.00135932	1	1	0
DGKB	1607	broad.mit.edu	37	7	14620515	14620515	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:14620515A>C	ENST00000403951.2	-	19	2003	c.1584T>G	c.(1582-1584)gaT>gaG	p.D528E	DGKB_ENST00000407950.1_Missense_Mutation_p.D520E|DGKB_ENST00000258767.5_Missense_Mutation_p.D528E|DGKB_ENST00000402815.1_Missense_Mutation_p.D527E|DGKB_ENST00000444700.2_Missense_Mutation_p.D509E|DGKB_ENST00000406247.3_Missense_Mutation_p.D528E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.D528E			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	528	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATCTTGCTAGATCATTGCCAG	0.413000													4	35					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904772	144904772	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:144904772C>A	ENST00000370490.1	+	1	5084	c.829C>A	c.(829-831)Cat>Aat	p.H277N	SLITRK2_ENST00000434188.2_Missense_Mutation_p.H277N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.H277N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.H277N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.H277N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	277						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGCAGCCATGCTGACAC	0.557000													26	116					1.32003e-05	1.73914e-05	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906524	164906524	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:164906524T>A	ENST00000475390.1	-	2	2538	c.2095A>T	c.(2095-2097)Act>Tct	p.T699S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.T699S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	699						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGGATGCCAGTAAGGTCCACA	0.567000										HNSCC(40;0.11)			9	49					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56099036	56099036	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:56099036C>T	ENST00000426658.2	-	1	887	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CTCFL_ENST00000429804.2_Missense_Mutation_p.E76K|CTCFL_ENST00000423479.2_Missense_Mutation_p.E76K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Missense_Mutation_p.E76K|CTCFL_ENST00000432255.2_Missense_Mutation_p.E76K|CTCFL_ENST00000243914.3_Missense_Mutation_p.E76K|CTCFL_ENST00000371196.2_Missense_Mutation_p.E76K|CTCFL_ENST00000422869.2_Missense_Mutation_p.E76K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422109.2_Missense_Mutation_p.E76K			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	76					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ATGTACTTCTCGCTCTCCTCC	0.592000													36	145					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102269917	102269917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:102269917G>T	ENST00000370103.4	-	6	1467	c.1254C>A	c.(1252-1254)taC>taA	p.Y418*	OLFM3_ENST00000338858.5_Nonsense_Mutation_p.Y438*|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	438	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ATATGTGAAAGTATTGGTTAT	0.438000													12	107					1.61879e-10	2.73431e-10	1	1	0
EPRS	2058	broad.mit.edu	37	1	220184353	220184353	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:220184353C>T	ENST00000366923.3	-	13	1809	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	514	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGGATCACTTCTTTCTTCAGT	0.423000													18	62					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366895	248366895	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:248366895C>A	ENST00000456743.1	+	1	564	c.526C>A	c.(526-528)Cac>Aac	p.H176N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAAATAGCCCACTTCTTCTG	0.413000													35	170					1.30293e-26	2.57171e-26	1	1	0
SERPINA4	5267	broad.mit.edu	37	14	95035756	95035756	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:95035756G>T	ENST00000557004.1	+	5	1529	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V370L|SERPINA4_ENST00000555095.1_Missense_Mutation_p.V370L			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	370					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CACCTTGGACGTGGATGAGGC	0.562000													4	48					1	1	1	1	0
RBM27	54439	broad.mit.edu	37	5	145641295	145641295	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:145641295C>T	ENST00000265271.5	+	13	2282	c.2116C>T	c.(2116-2118)Cca>Tca	p.P706S	RBM27_ENST00000506502.1_Missense_Mutation_p.P651S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	706	Gln-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATCACCTGCCACAGCATCT	0.507000													4	67					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11868629	11868629	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr18:11868629C>A	ENST00000334049.6	+	9	1606	c.998C>A	c.(997-999)tCc>tAc	p.S333Y	GNAL_ENST00000423027.3_Missense_Mutation_p.S256Y|GNAL_ENST00000602628.1_Missense_Mutation_p.S49Y|GNAL_ENST00000535121.1_Missense_Mutation_p.S256Y|GNAL_ENST00000269162.5_Missense_Mutation_p.S256Y|GNAL_ENST00000535980.1_3'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	256					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CTGAGAGAGTCCCTGGATCTT	0.413000													7	46					0.248553	0.251898	1	1	0
ATPAF1	64756	broad.mit.edu	37	1	47123832	47123832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:47123832C>T	ENST00000576409.1	-	4	587	c.525G>A	c.(523-525)atG>atA	p.M175I	ATPAF1_ENST00000371937.4_Missense_Mutation_p.M152I|ATPAF1_ENST00000329231.4_Missense_Mutation_p.M175I|ATPAF1_ENST00000574428.1_Missense_Mutation_p.M152I|ATPAF1_ENST00000532925.1_Missense_Mutation_p.M64I|ATPAF1_ENST00000542495.1_Start_Codon_SNP_p.M1I			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	152					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TTTCTTTTACCATCTCAATGT	0.299000													5	21					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780623	88780623	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:88780623T>A	ENST00000418177.2	-	2	785	c.418A>T	c.(418-420)Aag>Tag	p.K140*	GRM5_ENST00000305447.4_Nonsense_Mutation_p.K140*|GRM5_ENST00000393294.3_Nonsense_Mutation_p.K140*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.K140*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.K140*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.K140*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	140					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATGGGCTTCTTGGAGCGGAAG	0.493000													5	50					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51203935	51203935	+	Missense_Mutation	SNP	C	C	A	rs148755592	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:51203935C>A	ENST00000395542.2	-	7	1136	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L	COBL_ENST00000395540.2_Missense_Mutation_p.V293L|COBL_ENST00000441453.1_Missense_Mutation_p.V293L|COBL_ENST00000265136.7_Missense_Mutation_p.V293L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	293	Pro-rich.									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)					TCCGACTTCACGGACACCCCT	0.597000													8	39					0.000157383	0.000196078	1	1	0
SLC10A6	345274	broad.mit.edu	37	4	87769960	87769960	+	Missense_Mutation	SNP	C	C	A	rs141756668		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:87769960C>A	ENST00000273905.6	-	1	456	c.309G>T	c.(307-309)atG>atT	p.M103I	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	103						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GGCAGCAGCCCATGATGAGAA	0.512000													5	54					0.000602214	0.000714791	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31038921	31038921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:31038921G>T	ENST00000355537.3	+	4	2542	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATACCACTTAGAGCGACACCA	0.502000													16	110					3.52763e-06	4.81622e-06	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147293	26147293	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr16:26147293C>A	ENST00000331351.5	+	2	1487	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	365					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.A365A(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGGACCCCGCCGGGGAAATGG	0.493000													9	86					0.000442599	0.000530113	1	1	0
FLNA	2316	broad.mit.edu	37	X	153593198	153593198	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153593198C>A	ENST00000422373.1	-	12	2067	c.1819G>T	c.(1819-1821)Ggc>Tgc	p.G607C	FLNA_ENST00000344736.4_Missense_Mutation_p.G607C|FLNA_ENST00000360319.4_Missense_Mutation_p.G607C|FLNA_ENST00000369850.3_Missense_Mutation_p.G607C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	607					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCAGCGTGCCCACGTCGTCC	0.662000													26	316					3.08376e-08	4.73803e-08	1	1	0
MSH3	4437	broad.mit.edu	37	5	80168939	80168939	+	Silent	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:80168939A>T	ENST00000265081.6	+	23	3215	c.3135A>T	c.(3133-3135)gcA>gcT	p.A1045A		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1045			A -> T (in dbSNP:rs26279).		maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCACAGGCGCAGCAGAACAAG	0.358000								Mismatch excision repair (MMR)					6	43					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952554	33952554	+	RNA	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:33952554C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TTCAGCAGCCCCAGCTCGGAG	0.627000													3	11					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278467	114278467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:114278467C>A	ENST00000357077.4	+	38	8746	c.8693C>A	c.(8692-8694)aCt>aAt	p.T2898N	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2865N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2865					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCATCCATTACTACTCAAACA	0.388000													10	100					0.000442599	0.000530113	1	1	0
FAT3	120114	broad.mit.edu	37	11	92616431	92616431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:92616431C>A	ENST00000298047.6	+	23	12826	c.12809C>A	c.(12808-12810)tCg>tAg	p.S4270*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.S4270*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.S605*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.S4120*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4270					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACCCTGAGTCGCCCCGCATC	0.657000										TCGA Ovarian(4;0.039)			33	131					4.62619e-21	9.0632e-21	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62019242	62019242	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:62019242C>A	ENST00000435607.1	-	24	4476	c.4400G>T	c.(4399-4401)gGc>gTc	p.G1467V	SCN4A_ENST00000578147.1_Missense_Mutation_p.G1467V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1467					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGTCCGGATGCCCTTGGCCCC	0.612000													7	55					0.00198382	0.00226784	1	1	0
OR8B2	26595	broad.mit.edu	37	11	124252521	124252521	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:124252521G>T	ENST00000375013.2	-	1	737	c.719C>A	c.(718-720)aCt>aAt	p.T240N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAGCTACAAGTACTGAAGGC	0.388000													4	42					1.12685e-05	1.50723e-05	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43738703	43738703	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr15:43738703C>A	ENST00000263801.3	-	14	3159	c.2907G>T	c.(2905-2907)ggG>ggT	p.G969G	TP53BP1_ENST00000382044.4_Silent_p.G974G|TP53BP1_ENST00000382039.3_Silent_p.G974G|TP53BP1_ENST00000450115.2_Silent_p.G974G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	969					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTTCCACTCCCAAGTATGG	0.468000								Other conserved DNA damage response genes					7	47					1	1	1	1	0
ANK2	287	broad.mit.edu	37	4	114278766	114278766	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:114278766C>A	ENST00000357077.4	+	38	9045	c.8992C>A	c.(8992-8994)Caa>Aaa	p.Q2998K	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q2965K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2965					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATGGAATCCCAACAGGAAAG	0.428000													4	89					2.56e-06	3.53173e-06	1	1	0
C4orf40	401137	broad.mit.edu	37	4	71024442	71024442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:71024442C>A	ENST00000344526.5	+	3	662	c.473C>A	c.(472-474)cCt>cAt	p.P158H	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.P158H	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	158	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCAGCTGAGCCTGCTGCAGAG	0.637000													17	86					1.02788e-11	1.83005e-11	1	1	0
AIFM1	9131	broad.mit.edu	37	X	129289203	129289203	+	Silent	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:129289203A>T	ENST00000319908.3	-	2	387	c.165T>A	c.(163-165)tcT>tcA	p.S55S	AIFM1_ENST00000287295.3_Intron|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Intron	NM_145812.2	NP_665811.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	60					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CATCTTTCCCAGAAGCACCTG	0.413000													16	81					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621014	61621014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:61621014C>A	ENST00000583023.1	+	10	2237	c.2226C>A	c.(2224-2226)aaC>aaA	p.N742K	KCNH6_ENST00000581784.1_Missense_Mutation_p.N689K|KCNH6_ENST00000456941.2_Missense_Mutation_p.N689K|KCNH6_ENST00000314672.5_Missense_Mutation_p.N742K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	742					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCAGTGACAACCAGTCAGGTG	0.637000													8	73					0.0477658	0.0502446	1	1	0
GABRA1	2554	broad.mit.edu	37	5	161322792	161322792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:161322792C>A	ENST00000428797.2	+	10	1332	c.977C>A	c.(976-978)tCa>tAa	p.S326*	GABRA1_ENST00000444819.1_Nonsense_Mutation_p.S326*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.S326*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.S326*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.S326*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.S326*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	326					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTTGTGTTCTCAGCTCTGATT	0.433000													7	50					0.000274275	0.000333048	1	1	0
EDA2R	60401	broad.mit.edu	37	X	65819509	65819509	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:65819509G>T	ENST00000374719.3	-	6	767	c.711C>A	c.(709-711)gcC>gcA	p.A237A	EDA2R_ENST00000450752.1_Silent_p.A258A|EDA2R_ENST00000396050.1_Silent_p.A237A|EDA2R_ENST00000456230.2_Silent_p.A237A|EDA2R_ENST00000253392.5_Silent_p.A258A|EDA2R_ENST00000451436.2_Silent_p.A113A	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	237					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AGGTGCAGGAGGCCATGGTAA	0.557000													3	19					0.004672	0.00521641	1	1	0
KAZN	23254	broad.mit.edu	37	1	14925524	14925524	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:14925524C>T	ENST00000376030.2	+	1	325	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	KAZN_ENST00000503743.1_Missense_Mutation_p.R11C|KAZN_ENST00000422387.2_Missense_Mutation_p.R11C	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	11					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCTCGCGCTCCGCATCGATGG	0.667000													8	43					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504438	157504438	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:157504438G>T	ENST00000361835.3	-	8	1804	c.1647C>A	c.(1645-1647)ccC>ccA	p.P549P	FCRL5_ENST00000368190.3_Silent_p.P549P|FCRL5_ENST00000368189.3_Silent_p.P549P|FCRL5_ENST00000356953.4_Silent_p.P549P|FCRL5_ENST00000368191.3_Silent_p.P464P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	549	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CACTGCGCTGGGGACCAAAGC	0.517000													9	27					1.76689e-08	2.76306e-08	1	1	0
KRT16	3868	broad.mit.edu	37	17	39768802	39768802	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:39768802C>A	ENST00000301653.4	-	1	203	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	47	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGCCGCCCCCGTAGGTGCTG	0.711000													3	19					1	1	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19752495	19752495	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:19752495G>A	ENST00000400113.3	-	3	370	c.266C>T	c.(265-267)cCa>cTa	p.P89L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	89					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CAGCTGCTCTGGGTGGAAGAG	0.517000													18	83					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208725974	208725974	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:208725974T>A	ENST00000427836.2	-	7	2452	c.1963A>T	c.(1963-1965)Aag>Tag	p.K655*	PLEKHM3_ENST00000389247.4_Nonsense_Mutation_p.K655*	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	655					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGCCAGCTTTCCCTCTATT	0.438000													6	52					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8320499	8320499	+	Silent	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:8320499G>A	ENST00000558331.1	+	5	606	c.147G>A	c.(145-147)ctG>ctA	p.L49L	CERS4_ENST00000559450.1_Silent_p.L100L|CERS4_ENST00000251363.5_Silent_p.L100L|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Silent_p.L100L			Q9HA82	CERS4_HUMAN	ceramide synthase 4	100						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGCCCCAGCTGTCTCTCCTGG	0.647000													9	49					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319828	21319828	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:21319828G>T	ENST00000583088.1	+	3	2069	c.1174G>T	c.(1174-1176)Gcg>Tcg	p.A392S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A392S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGAGGATGAGGCGGACGGAGA	0.652000										Prostate(3;0.18)			6	81					0.00307968	0.00348281	1	1	0
XIST	7503	broad.mit.edu	37	X	73071543	73071543	+	RNA	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:73071543C>G	ENST00000429829.1	-	0	1045					NR_001564.2																						AGGTTTAGCTCATGCAATGCA	0.453000													4	42					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273094	162273094	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:162273094G>T	ENST00000389554.3	+	1	490	c.173G>T	c.(172-174)gGg>gTg	p.G58V		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	58						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ATTACCAGGGGGATGACGAAT	0.493000													15	72					7.93312e-07	1.13917e-06	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143632350	143632350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:143632350G>T	ENST00000408955.2	+	1	92	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCAGACGTGGGTGAGAGAATT	0.388000													7	79					0.0293803	0.0310912	1	1	0
CLIC5	53405	broad.mit.edu	37	6	45882044	45882044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:45882044C>T	ENST00000185206.6	-	5	1138	c.986G>A	c.(985-987)gGg>gAg	p.G329E	CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Missense_Mutation_p.G170E|CLIC5_ENST00000339561.6_Missense_Mutation_p.G170E	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	329	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GCGCCGGGACCCCTTGTCTTC	0.537000													8	69					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421916	153421916	+	Missense_Mutation	SNP	G	G	C	rs1065440	byFrequency	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153421916G>C	ENST00000369951.4	+	5	952	c.892G>C	c.(892-894)Gcc>Ccc	p.A298P		NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	298			A -> P (in dbSNP:rs1065440).		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	p.A298T(1)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTGGTTACGCCTTCCACCC	0.542000													47	336					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023712	32023712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:32023712C>A	ENST00000375244.3	-	24	8584	c.8383G>T	c.(8383-8385)Gag>Tag	p.E2795*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.E2795*			P22105	TENX_HUMAN	tenascin XB	2853	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCCCGGGCTCCAGGCCCCCC	0.662000													17	75					3.52763e-06	4.81622e-06	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35993838	35993838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:35993838G>T	ENST00000297866.5	+	15	2587	c.2521G>T	c.(2521-2523)Gtg>Ttg	p.V841L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	841										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATCCTAGTGGTGGCAGTTGT	0.413000													8	70					0.000157383	0.000196078	1	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55286890	55286890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:55286890C>A	ENST00000336077.6	+	4	684	c.644C>A	c.(643-645)cCa>cAa	p.P215Q	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.P215Q|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	215					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCAAGTGACCCACTGCTTGTT	0.547000													32	146					2.42023e-17	4.63804e-17	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140710791	140710791	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr5:140710791G>T	ENST00000517417.1	+	1	540	c.540G>T	c.(538-540)ctG>ctT	p.L180L	PCDHGA1_ENST00000378105.3_Silent_p.L180L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCTCCCTGGATGTGCAAC	0.527000													18	79					5.3912e-06	7.28504e-06	1	1	0
SCAF4	57466	broad.mit.edu	37	21	33044562	33044562	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:33044562A>T	ENST00000286835.7	-	20	2976	c.2594T>A	c.(2593-2595)aTg>aAg	p.M865K	SCAF4_ENST00000399804.1_Missense_Mutation_p.M843K|SCAF4_ENST00000434667.3_Missense_Mutation_p.M850K	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	865						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGGTGGGGGCATTCCTGGAGG	0.637000													12	76					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50468909	50468909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:50468909C>T	ENST00000266182.6	-	12	2152	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	TTLL8_ENST00000440475.1_Missense_Mutation_p.R698Q					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CTTCAGGCCCCGCAGCACAGG	0.697000													3	25					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189927997	189927997	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:189927997C>A	ENST00000374866.3	-	27	2045		c.e27-1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTGGCGCACCCTATAGAATTG	0.498000													16	82					1.52009e-12	2.77193e-12	1	1	0
FGFR2	2263	broad.mit.edu	37	10	123310863	123310863	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:123310863T>G	ENST00000358487.5	-	5	837	c.565A>C	c.(565-567)Atg>Ctg	p.M189L	FGFR2_ENST00000369059.1_Missense_Mutation_p.M74L|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Missense_Mutation_p.M100L|FGFR2_ENST00000359354.2_Missense_Mutation_p.M189L|FGFR2_ENST00000369061.4_Missense_Mutation_p.M189L|FGFR2_ENST00000351936.6_Missense_Mutation_p.M189L|FGFR2_ENST00000457416.2_Missense_Mutation_p.M189L|FGFR2_ENST00000369060.4_Missense_Mutation_p.M189L|FGFR2_ENST00000346997.2_Missense_Mutation_p.M189L|FGFR2_ENST00000356226.4_Missense_Mutation_p.M74L|FGFR2_ENST00000357555.5_Missense_Mutation_p.M100L|FGFR2_ENST00000369056.1_Missense_Mutation_p.M189L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	189	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGCCACCGCATGGTTGGCATT	0.502000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				13	65					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105178389	105178389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:105178389G>T	ENST00000369797.3	+	15	2198	c.2104G>T	c.(2104-2106)Gtt>Ttt	p.V702F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	702	S1 motif 7.				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)		CGAGGGGCGTGTTGTATCCTT	0.547000													5	42					0.184627	0.188198	1	1	0
STAG1	10274	broad.mit.edu	37	3	136170967	136170967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:136170967G>A	ENST00000383202.2	-	14	1592	c.1336C>T	c.(1336-1338)Caa>Taa	p.Q446*	STAG1_ENST00000536929.1_Nonsense_Mutation_p.Q30*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.Q446*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.Q220*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	446					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCTTCTGCTTGTGGGTCATGT	0.398000													7	43					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135158	156135158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:156135158G>A	ENST00000329476.3	+	2	556	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	NPY2R_ENST00000506608.1_Missense_Mutation_p.G23R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	23					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGAACAATACGGGCCACAAAC	0.488000													7	36					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111071	7111071	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:7111071C>A	ENST00000306904.5	+	1	907	c.720C>A	c.(718-720)caC>caA	p.H240Q		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	240	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTACACCCACCGCGATTACG	0.662000													6	45					0.00116845	0.00135932	1	1	0
PLEC	5339	broad.mit.edu	37	8	144997681	144997681	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr8:144997681C>A	ENST00000322810.4	-	31	6996	c.6827G>T	c.(6826-6828)cGc>cTc	p.R2276L	PLEC_ENST00000345136.3_Missense_Mutation_p.R2139L|PLEC_ENST00000357649.2_Missense_Mutation_p.R2143L|PLEC_ENST00000354589.3_Missense_Mutation_p.R2139L|PLEC_ENST00000356346.3_Missense_Mutation_p.R2125L|PLEC_ENST00000354958.2_Missense_Mutation_p.R2117L|PLEC_ENST00000398774.2_Missense_Mutation_p.R2107L|PLEC_ENST00000527096.1_Missense_Mutation_p.R2162L|PLEC_ENST00000436759.2_Missense_Mutation_p.R2166L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2276	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCCTCCTTGCGCAGCTTCTC	0.697000													3	23					0.150653	0.154464	1	1	0
PTCH2	8643	broad.mit.edu	37	1	45293185	45293185	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:45293185G>T	ENST00000447098.2	-	15	2271	c.2260C>A	c.(2260-2262)Cgc>Agc	p.R754S	PTCH2_ENST00000372192.3_Missense_Mutation_p.R754S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	754					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AAGAGGGCGCGTTGGGAGTGG	0.642000									Basal Cell Nevus syndrome				8	54					0.000157383	0.000196078	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125592355	125592355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:125592355C>A	ENST00000504087.1	-	4	3114	c.2077G>T	c.(2077-2079)Gtg>Ttg	p.V693L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.V514L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	693										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGGTGTTCCACAATCTCTCTA	0.453000													9	87					0.000274275	0.000333048	1	1	0
SPECC1	92521	broad.mit.edu	37	17	20108477	20108477	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:20108477C>A	ENST00000395530.2	+	2	1080	c.872C>A	c.(871-873)tCc>tAc	p.S291Y	SPECC1_ENST00000395522.2_Missense_Mutation_p.S291Y|SPECC1_ENST00000395529.3_Missense_Mutation_p.S372Y|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.S291Y|SPECC1_ENST00000261503.5_Missense_Mutation_p.S372Y|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.S372Y	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	372	Ser-rich.					nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCCCTGGCTTCCCTCACAGAG	0.468000													10	91					0.00829132	0.00921841	1	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376269	75376269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:75376269C>A	ENST00000555647.1	-	8	1534	c.1247G>T	c.(1246-1248)gGg>gTg	p.G416V	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G416V|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G416V|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G385V			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	416	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGCAGGTTCCCGGGGTGGAG	0.667000													14	33					1.5842e-08	2.49216e-08	1	1	0
UGT2B4	7363	broad.mit.edu	37	4	70351084	70351084	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:70351084G>T	ENST00000305107.6	-	5	1198	c.1152C>A	c.(1150-1152)atC>atA	p.I384I	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.I248I|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	384				EAIYHG -> KAISPR (in Ref. 1; CAA68415).	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCCATGGTAGATTGCCTCAT	0.433000													15	116					1.15088e-07	1.72305e-07	1	1	0
MACF1	23499	broad.mit.edu	37	1	39853456	39853456	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:39853456G>T	ENST00000564288.1	+	58	15719	c.14942G>T	c.(14941-14943)cGg>cTg	p.R4981L	MACF1_ENST00000545844.1_Missense_Mutation_p.R2919L|MACF1_ENST00000289893.4_Missense_Mutation_p.R3421L|MACF1_ENST00000317713.7_Missense_Mutation_p.R2919L|MACF1_ENST00000567887.1_Missense_Mutation_p.R5018L|MACF1_ENST00000539005.1_Missense_Mutation_p.R2898L|MACF1_ENST00000361689.2_Missense_Mutation_p.R2919L|MACF1_ENST00000372915.3_Missense_Mutation_p.R4986L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4986					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGGAATCCGGGATGAGAAG	0.498000													3	36					0.004672	0.00521641	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17418594	17418594	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:17418594C>A	ENST00000302539.4	-	33	4117		c.e33-1		ABCC8_ENST00000389817.3_Splice_Site	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGCGATGGTGCTGGGGGCCGG	0.632000													23	108					9.95505e-16	1.88716e-15	1	1	0
GCNT2	2651	broad.mit.edu	37	6	10557142	10557142	+	Silent	SNP	C	C	A	rs55758482		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:10557142C>A	ENST00000316170.3	+	1	903	c.486C>A	c.(484-486)atC>atA	p.I162I	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	164						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATGGAGGGATCTCCAGGCTCC	0.488000													9	63					0.00448238	0.00503671	1	1	0
ANK2	287	broad.mit.edu	37	4	114278765	114278765	+	Silent	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:114278765C>G	ENST00000357077.4	+	38	9044	c.8991C>G	c.(8989-8991)tcC>tcG	p.S2997S	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.S2964S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2964					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATGGAATCCCAACAGGAAA	0.423000													4	89					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77702207	77702207	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:77702207C>T	ENST00000534064.1	-	2	227	c.193G>A	c.(193-195)Gag>Aag	p.E65K	INTS4_ENST00000529807.1_Missense_Mutation_p.E65K|INTS4_ENST00000527522.1_Missense_Mutation_p.E65K	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	65					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTTTCCGCCTCGACAGGCTTC	0.448000													6	68					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566027	142566027	+	Silent	SNP	C	C	G			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:142566027C>G	ENST00000392957.2	+	14	2734	c.1947C>G	c.(1945-1947)tcC>tcG	p.S649S	EPHB6_ENST00000411471.2_Silent_p.S372S|EPHB6_ENST00000442129.1_Silent_p.S649S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	649						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCGACCCCTCCACCTACGAGG	0.577000													10	103					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005167	74005167	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:74005167C>A	ENST00000301607.3	-	22	4372	c.4119G>T	c.(4117-4119)caG>caT	p.Q1373H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q1395H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1373	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCACCTCCTGCACCACCA	0.701000													21	149					1.2644e-06	1.81071e-06	1	1	0
POTEH	23784	broad.mit.edu	37	22	16287404	16287404	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:16287404T>A	ENST00000343518.6	-	1	533	c.482A>T	c.(481-483)gAc>gTc	p.D161V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	161										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGCGCTGTCGTCGTAGTCTCC	0.587000													29	320					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44665968	44665968	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr20:44665968C>A	ENST00000454036.1	+	6	701	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Missense_Mutation_p.L186M|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L186M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	209					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCTTCTACCTGGGCACTAC	0.572000													14	37					1.05317e-09	1.72904e-09	1	1	0
MKRN1	23608	broad.mit.edu	37	7	140159034	140159034	+	Splice_Site	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:140159034C>A	ENST00000255977.2	-	4	769		c.e4-1		MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Splice_Site|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Splice_Site	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1								ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GAAGGCGCAGCTGAAAATGTG	0.463000													10	74					0.000442599	0.000530113	1	1	0
KDM4E	390245	broad.mit.edu	37	11	94759270	94759270	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr11:94759270G>T	ENST00000450979.2	+	1	849	c.549G>T	c.(547-549)aaG>aaT	p.K183N		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	183	JmjC.				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(1)|endometrium(7)|kidney(1)|lung(3)	12						GCATGTGGAAGACCACGTTTG	0.532000													8	89					6.5536e-12	1.17875e-11	1	1	0
CNST	163882	broad.mit.edu	37	1	246784884	246784884	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:246784884G>T	ENST00000366513.4	+	3	802	c.533G>T	c.(532-534)cGa>cTa	p.R178L	CNST_ENST00000366512.3_Missense_Mutation_p.R178L|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	178					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCACTTATACGAGGTGAAGTT	0.463000													27	114					6.07407e-21	1.18557e-20	1	1	0
RTDR1	27156	broad.mit.edu	37	22	23401805	23401805	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr22:23401805C>T	ENST00000216036.4	-	7	1078	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	294							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGTAAGGGCCTTGGTGGCAT	0.652000													21	151					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	67					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120072035	120072035	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:120072035G>T	ENST00000307128.5	+	3	298	c.85G>T	c.(85-87)Ggc>Tgc	p.G29C		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	29							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGATGTTGATGGCATGGACCT	0.373000													4	43					0.00024832	0.000304336	1	1	0
LSG1	55341	broad.mit.edu	37	3	194373706	194373706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr3:194373706C>A	ENST00000265245.5	-	8	1239	c.925G>T	c.(925-927)Gac>Tac	p.D309Y		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	309					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCTGGACAGTCCTCATACTCA	0.517000													18	94					1.33834e-09	2.19038e-09	1	1	0
OXA1L	5018	broad.mit.edu	37	14	23235795	23235795	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr14:23235795T>C	ENST00000285848.5	+	1	65	c.65T>C	c.(64-66)tTa>tCa	p.L22S		NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CGTTCTCTTTTACCGCCTGAT	0.502000													16	117					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153136378	153136378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:153136378C>A	ENST00000370060.1	-	7	750	c.561G>T	c.(559-561)atG>atT	p.M187I	L1CAM_ENST00000370055.1_Missense_Mutation_p.M182I|L1CAM_ENST00000361699.4_Missense_Mutation_p.M187I|L1CAM_ENST00000361981.3_Missense_Mutation_p.M182I|L1CAM_ENST00000370057.3_Missense_Mutation_p.M187I|L1CAM_ENST00000543994.1_Missense_Mutation_p.M189I|L1CAM_ENST00000538883.1_Missense_Mutation_p.M189I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	187	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTTCTGGCCCATCGTCACCC	0.597000													14	146					0.105934	0.110549	1	1	0
HOXB3	3213	broad.mit.edu	37	17	46628451	46628451	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:46628451T>A	ENST00000470495.1	-	2	1988	c.541A>T	c.(541-543)Agc>Tgc	p.S181C	HOXB3_ENST00000490677.1_Missense_Mutation_p.S47C|HOXB3_ENST00000489475.1_Missense_Mutation_p.S108C|HOXB3_ENST00000485909.2_Missense_Mutation_p.S49C|HOXB3_ENST00000311626.4_Missense_Mutation_p.S181C|HOXB3_ENST00000498678.1_Missense_Mutation_p.S181C|HOXB3_ENST00000476342.1_Missense_Mutation_p.S181C|HOXB3_ENST00000472863.1_Missense_Mutation_p.S108C|HOXB3_ENST00000460160.1_Missense_Mutation_p.S49C|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	181					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCCGGGGGGCTCTTGTCCCCT	0.746000													14	47					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639340	158639340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:158639340C>A	ENST00000368148.3	-	14	1871	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R564L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	564					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAGGGCATCCCGCCGGGCTAA	0.493000													26	153					1.66031e-10	2.79547e-10	1	1	0
MAG	4099	broad.mit.edu	37	19	35791225	35791225	+	Silent	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:35791225C>A	ENST00000361922.4	+	6	1038	c.888C>A	c.(886-888)acC>acA	p.T296T	MAG_ENST00000392213.3_Silent_p.T296T|MAG_ENST00000537831.2_Silent_p.T271T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	296	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGAGGTGACCCCCGCCGAAG	0.677000													4	32					0.184627	0.188198	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56077039	56077039	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr10:56077039T>A	ENST00000373965.2	-	8	1262	c.868A>T	c.(868-870)Aga>Tga	p.R290*	PCDH15_ENST00000373955.1_Nonsense_Mutation_p.R290*|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.R290*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.R253*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.R290*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.R290*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.R290*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.R290*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.R268*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.R290*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R295*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.R290*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.R268*|PCDH15_ENST00000395442.1_Nonsense_Mutation_p.R290*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.R290*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	290	Cadherin 3.				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)				ACCGGAGTTCTCAACTCAGGT	0.383000										HNSCC(58;0.16)			9	47					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903731	119903731	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:119903731C>T	ENST00000313400.4	-	4	1142	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.V348M|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	348						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGGACTCCACTGTCTCCTGA	0.582000													10	58					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117773480	117773480	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:117773480G>A	ENST00000276204.6	+	38	4158	c.4084G>A	c.(4084-4086)Gta>Ata	p.V1362I	DOCK11_ENST00000276202.7_Missense_Mutation_p.V1362I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1362					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGATCAGGAGTAATGCAGGC	0.413000													4	54					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744444	17744444	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:17744444C>A	ENST00000380060.3	+	6	2493	c.2155C>A	c.(2155-2157)Cct>Act	p.P719T	NHS_ENST00000398097.3_Missense_Mutation_p.P563T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	719						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)					GGATTTTAGTCCTGAGCGTCC	0.532000													14	136					1.5842e-08	2.49216e-08	1	1	0
MAP3K6	9064	broad.mit.edu	37	1	27688258	27688258	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:27688258G>A	ENST00000374040.3	-	9	1752	c.1492C>T	c.(1492-1494)Cac>Tac	p.H498Y	MAP3K6_ENST00000493901.1_Missense_Mutation_p.H506Y|MAP3K6_ENST00000357582.2_Missense_Mutation_p.H506Y			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	506					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAAGAAGTGGAGCCAGAAG	0.632000													9	25					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20185763	20185763	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:20185763C>A	ENST00000379565.3	-	17	1753	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A487S|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A488S|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A486S|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	516	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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 serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACAGCACTGGCCTCTCGTTCA	0.353000													7	100					0.00198382	0.00226784	1	1	0
HDC	3067	broad.mit.edu	37	15	50546431	50546431	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr15:50546431C>A	ENST00000267845.3	-	6	1018	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L	HDC_ENST00000543581.1_Missense_Mutation_p.V206L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	206					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTCATCTTCACAAGGGAAATC	0.522000													8	28					0.000274275	0.000333048	1	1	0
ITGA7	3679	broad.mit.edu	37	12	56088234	56088234	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr12:56088234A>T	ENST00000257880.7	-	18	2701	c.2482T>A	c.(2482-2484)Ttg>Atg	p.L828M	ITGA7_ENST00000394230.2_Missense_Mutation_p.L788M|ITGA7_ENST00000257879.6_Missense_Mutation_p.L784M|ITGA7_ENST00000452168.2_Missense_Mutation_p.L691M|ITGA7_ENST00000394229.2_Missense_Mutation_p.L784M|ITGA7_ENST00000347027.6_Missense_Mutation_p.L778M|ITGA7_ENST00000553804.1_Missense_Mutation_p.L788M|ITGA7_ENST00000555728.1_Missense_Mutation_p.L828M			Q13683	ITA7_HUMAN	integrin, alpha 7	828					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TACGTGGCCAACAGCAGCTCT	0.572000													5	43					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201534313	201534313	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:201534313G>C	ENST00000374700.2	+	34	4055	c.3814G>C	c.(3814-3816)Ggg>Cgg	p.G1272R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1272					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGGAGAGTCGGGGGTGTTCCT	0.478000													36	178					0	0	1	0	0
PF4V1	5197	broad.mit.edu	37	4	74719546	74719546	+	Silent	SNP	C	C	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr4:74719546C>T	ENST00000226524.3	+	2	321	c.147C>T	c.(145-147)acC>acT	p.T49T		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	49					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTGTGAAGACCACCTCCCAGG	0.612000													7	29					0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45109547	45109547	+	Silent	SNP	G	G	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:45109547G>T	ENST00000381112.3	+	6	1474	c.795G>T	c.(793-795)ctG>ctT	p.L265L	CCM2_ENST00000544363.1_Intron|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000541586.1_Silent_p.L186L|CCM2_ENST00000475551.1_Silent_p.L238L|CCM2_ENST00000258781.6_Silent_p.L244L|CCM2_ENST00000461377.1_3'UTR	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	244					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCACCACCTGTCCCTGCACA	0.602000													18	83					1.01871e-10	1.74306e-10	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028207	37028207	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:37028207C>A	ENST00000358047.3	+	1	1776	c.1724C>A	c.(1723-1725)cCc>cAc	p.P575H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	575										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCGGAGCCTCCCGATACTGGA	0.647000													13	175					4.3838e-07	6.4174e-07	1	1	0
UGT1A6	54578	broad.mit.edu	37	2	234681091	234681091	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr2:234681091G>C	ENST00000305139.6	+	5	1624	c.1485G>C	c.(1483-1485)ttG>ttC	p.L495F	UGT1A4_ENST00000373409.3_Missense_Mutation_p.L497F|UGT1A6_ENST00000373424.1_Missense_Mutation_p.L228F|UGT1A1_ENST00000305208.5_Missense_Mutation_p.L496F|UGT1A3_ENST00000482026.1_Missense_Mutation_p.L497F|UGT1A5_ENST00000373414.3_Missense_Mutation_p.L497F|UGT1A10_ENST00000344644.5_Missense_Mutation_p.L493F|UGT1A9_ENST00000354728.4_Missense_Mutation_p.L493F|UGT1A8_ENST00000373450.4_Missense_Mutation_p.L493F|UGT1A7_ENST00000373426.3_Missense_Mutation_p.L493F	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTTTCCTCTTGGCCGTCGTGC	0.537000													14	107					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													2	4	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26426984	26426984	+	RNA	DEL	T	T	-	rs79308421		TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:26426984delT	ENST00000466808.2	+	0	1067																											GAACCTAGTCTTTTTTTTTTT	0.428													2	4	---	---	---	---					
CD109	135228	broad.mit.edu	37	6	74513014	74513014	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:74513014delG	ENST00000437994.2	+	24	3381	c.2950delG	c.(2950-2952)ggfs	p.G984fs	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000287097.5_Frame_Shift_Del_p.G984fs|CD109_ENST00000422508.2_Frame_Shift_Del_p.G907fs	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	984						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGACCCTTCTGGGAGCACTTG	0.413													9	30	---	---	---	---					
C6orf118	168090	broad.mit.edu	37	6	165715130	165715130	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr6:165715130delG	ENST00000543069.1	-	2	950	c.369delC	c.(367-369)gcfs	p.A123fs	C6orf118_ENST00000230301.8_Frame_Shift_Del_p.A227fs			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	227										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GATCTTGCTTGGCGAGCACTT	0.622													9	91	---	---	---	---					
DPY19L2P3	442524	broad.mit.edu	37	7	29727118	29727118	+	RNA	DEL	A	A	-			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr7:29727118delA	ENST00000602980.1	+	0	936					NR_036482.1																						TTGTTGATTTAAAAAAAAATT	0.244													2	4	---	---	---	---					
OR1J1	347168	broad.mit.edu	37	9	125239575	125239576	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr9:125239575_125239576insT	ENST00000259357.2	-	1	659_660	c.630_631insA	c.(628-633)cctcctfs	p.P211fs		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ATGCACAGGAATGGAAGCATAA	0.495													9	43	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													2	4	---	---	---	---					
TMEM102	284114	broad.mit.edu	37	17	7340175	7340178	+	Frame_Shift_Del	DEL	GCAG	GCAG	-			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr17:7340175_7340178delGCAG	ENST00000323206.1	+	3	1150_1153	c.877_880delGCAG	c.(877-882)ctfs	p.AA293fs	RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Frame_Shift_Del_p.AA293fs|RP11-104H15.9_ENST00000570444.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	293					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCTGGTGCACGCAGCTCGCCACGC	0.676													8	73	---	---	---	---					
OR7A17	26333	broad.mit.edu	37	19	14991855	14991856	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr19:14991855_14991856insA	ENST00000327462.2	-	1	408_409	c.312_313insT	c.(310-315)tttactfs	p.T105fs		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CCAAAAAGTACAAAAAAGCACA	0.470													10	51	---	---	---	---					
DYRK1A	1859	broad.mit.edu	37	21	38884474	38884475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chr21:38884474_38884475insA	ENST00000339659.3	+	11	3375_3376	c.1905_1906insA	c.(1903-1908)gactatfs	p.DY635fs	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Frame_Shift_Ins_p.DY416fs|DYRK1A_ENST00000398960.2_Frame_Shift_Ins_p.DY644fs	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	644					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTACCCAAGATTCTATGGAGGT	0.520													8	70	---	---	---	---					
MAP3K15	389840	broad.mit.edu	37	X	19391685	19391685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:19391685delC	ENST00000338883.4	-	21	2901	c.2902delG	c.(2902-2904)cgfs	p.A968fs	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.A800fs|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.A403fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	968							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGCCTGGGCGCCCGGGTCCTC	0.677													3	6	---	---	---	---					
SAT1	6303	broad.mit.edu	37	X	23802146	23802147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-A48X-01A-11D-A24D-08	TCGA-55-A48X-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dec59723-1ea2-421a-aea2-d1d36dc1f7e4	f298a1a9-0cd9-4272-8290-f640ec7c3836	g.chrX:23802146_23802147insA	ENST00000379253.3	+	3	527_528	c.348_349insA	c.(346-351)agaaaafs	p.RK116fs	SAT1_ENST00000379270.4_Intron|SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Frame_Shift_Ins_p.RK146fs			P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	AACTACTGAGGAAAAAAAAAAA	0.396													2	4	---	---	---	---