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
ZFHX4	79776	broad.mit.edu	37	8	77767876	77767876	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:77767876C>A	ENST00000521891.2	+	10	9167	c.8719C>A	c.(8719-8721)Ccg>Acg	p.P2907T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2881T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2862T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2862T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2862						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATAGCGGACCCGAGCTCCCC	0.502000										HNSCC(33;0.089)			11	46					0.000978159	0.00108157	1	1	0
LHX8	431707	broad.mit.edu	37	1	75602803	75602803	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:75602803G>T	ENST00000294638.5	+	4	788	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.G32W	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	42						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CGAGGGAGCGGGGGACGAGGA	0.721000													10	34					3.07112e-06	3.70392e-06	1	1	0
KCNJ1	3758	broad.mit.edu	37	11	128712280	128712280	+	Silent	SNP	C	C	A	rs147611594	byFrequency	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:128712280C>A	ENST00000392664.2	-	1	149	c.33G>T	c.(31-33)acG>acT	p.T11T	KCNJ1_ENST00000324036.3_Intron|KCNJ1_ENST00000392665.2_Intron|KCNJ1_ENST00000392666.1_Intron|KCNJ1_ENST00000440599.2_Intron	NM_000220.4	NP_000211.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	11					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CACTTACCAACGTGTCAAACA	0.438000													9	24					0.00621372	0.00660725	1	1	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802931	31802931	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:31802931G>T	ENST00000334068.2	+	1	360	c.338G>T	c.(337-339)aGa>aTa	p.R113I		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	113						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						AGTGGCTTCAGATTCCTGAAA	0.522000													6	64					3.59834e-05	4.15895e-05	1	1	0
DYSF	8291	broad.mit.edu	37	2	71780146	71780146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:71780146C>A	ENST00000258104.3	+	20	2035	c.1758C>A	c.(1756-1758)taC>taA	p.Y586*	DYSF_ENST00000409366.1_Nonsense_Mutation_p.Y587*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.Y618*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.Y604*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Y617*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Y587*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Y604*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Y573*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Y603*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Y586*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.Y603*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	586						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCAGAAGTACCTTAGGAGGC	0.577000													22	14					7.45023e-12	1.02441e-11	1	1	0
CDH12	1010	broad.mit.edu	37	5	21975359	21975359	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:21975359G>T	ENST00000382254.1	-	6	1453	c.367C>A	c.(367-369)Cct>Act	p.P123T	CDH12_ENST00000504376.2_Missense_Mutation_p.P123T|CDH12_ENST00000522262.1_Missense_Mutation_p.P123T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	123	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGTAGAAAGGTTTCTCTTCT	0.448000										HNSCC(59;0.17)			47	214					1.7489e-18	2.68868e-18	1	1	0
OPRL1	4987	broad.mit.edu	37	20	62724131	62724131	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:62724131G>T	ENST00000349451.3	+	4	470	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C	OPRL1_ENST00000355631.4_Missense_Mutation_p.G20C|OPRL1_ENST00000336866.2_Missense_Mutation_p.G20C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	20					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCACCTTCAGGGCAACCTGTC	0.642000													23	69					1.55469e-16	2.33937e-16	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111886149	111886149	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:111886149G>T	ENST00000305815.5	-	26	3535	c.3283C>A	c.(3283-3285)Ccg>Acg	p.P1095T	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P1047T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1095					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATGTTAATCGGAGTTTGAATA	0.289000													8	31					5.18039e-06	6.18931e-06	1	1	0
CPEB4	80315	broad.mit.edu	37	5	173316776	173316776	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:173316776A>C	ENST00000265085.5	+	1	1494	c.40A>C	c.(40-42)Act>Cct	p.T14P	CPEB4_ENST00000519835.1_Missense_Mutation_p.T14P|CPEB4_ENST00000520867.1_Missense_Mutation_p.T14P|CPEB4_ENST00000334035.5_Missense_Mutation_p.T14P	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	14							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAAAGCAATACTGGGAATAA	0.433000													18	134					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51308406	51308406	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:51308406G>T	ENST00000266037.9	+	24	2539	c.2516G>T	c.(2515-2517)aGg>aTg	p.R839M		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	839						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCATTGCCAGGACAGTGGAT	0.547000													15	102					1.5739e-10	2.11845e-10	1	1	0
TENM2	57451	broad.mit.edu	37	5	167379751	167379751	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:167379751G>T	ENST00000519204.1	+	3	626	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	TENM2_ENST00000518659.1_Missense_Mutation_p.D291Y|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000403607.2_Missense_Mutation_p.D124Y|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.D291Y|TENM2_ENST00000520394.1_Missense_Mutation_p.D100Y					teneurin transmembrane protein 2																		AGCGCCCAATGACCTGGCCAC	0.622000													3	10					6.4e-05	7.35874e-05	1	1	0
OR4B1	119765	broad.mit.edu	37	11	48238825	48238825	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:48238825T>G	ENST00000309562.2	+	1	482	c.464T>G	c.(463-465)aTa>aGa	p.I155R		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTCACTCCATAATTCAGATT	0.468000													34	45					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179771	103179771	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:103179771G>T	ENST00000424685.2	-	45	7093	c.6934C>A	c.(6934-6936)Ctt>Att	p.L2312I	RELN_ENST00000343529.5_Missense_Mutation_p.L2312I|RELN_ENST00000428762.1_Missense_Mutation_p.L2312I			P78509	RELN_HUMAN	reelin	2312					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTCCAATAAGAATCTGAAAT	0.353000													6	45					0.00116845	0.00128308	1	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645527	13645527	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:13645527C>T	ENST00000361205.4	+	7	1460	c.792C>T	c.(790-792)ggC>ggT	p.G264G	LDLRAD4_ENST00000586765.1_Silent_p.G209G|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000592991.1_Silent_p.G166G|LDLRAD4_ENST00000585931.1_Silent_p.G187G|LDLRAD4_ENST00000399848.3_Silent_p.G246G|LDLRAD4_ENST00000587757.1_Silent_p.G227G|LDLRAD4_ENST00000359446.5_Silent_p.G264G	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		ACCACCCAGGCGCCTCTTTCC	0.597000													17	110					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393193	164393193	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:164393193T>A	ENST00000280605.3	-	1	1854	c.1694A>T	c.(1693-1695)gAt>gTt	p.D565V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	565						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCTGTAGTGATCCTCCACTGT	0.532000													21	176					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935191	113935191	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:113935191A>T	ENST00000335953.4	+	2	1549	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E390V	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	390					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AAGCTGGGGGAGCTGGCTGTG	0.632000													6	43					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924374	70924374	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:70924374G>A	ENST00000603540.1	+	2	416	c.158G>A	c.(157-159)aGa>aAa	p.R53K	ADAM21_ENST00000267499.3_Missense_Mutation_p.R53K|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	53					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCAGGGGCAGAAGTGCAAAG	0.527000													6	112					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135577	85135577	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:85135577C>A	ENST00000437941.2	-	3	485		c.e3-1		SSX2IP_ENST00000370612.4_Splice_Site|SSX2IP_ENST00000605755.1_Splice_Site|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Splice_Site	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein						cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAGTCAATTCCTGGTAGGAGA	0.318000													20	32					2.94398e-08	3.73412e-08	1	1	0
MAP1LC3C	440738	broad.mit.edu	37	1	242162078	242162078	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:242162078C>T	ENST00000357246.3	-	2	178	c.114_splice	c.e2+1	p.P38_splice		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	38					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTGTCTTACCGGGATTTTGT	0.502000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	91	247					0	0	1	0	0
C14orf142	84520	broad.mit.edu	37	14	93673329	93673329	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:93673329C>T	ENST00000306954.4	-	1	110	c.54G>A	c.(52-54)cgG>cgA	p.R18R	RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	18										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CACAGGACACCCGCAGCTTCT	0.632000											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	63					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170563	77170563	+	Silent	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:77170563G>C	ENST00000253506.5	+	2	657	c.288G>C	c.(286-288)ggG>ggC	p.G96G	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.G96G|NFATC1_ENST00000329101.4_Silent_p.G83G|NFATC1_ENST00000318065.5_Silent_p.G83G|NFATC1_ENST00000591814.1_Silent_p.G96G|NFATC1_ENST00000586434.1_Silent_p.G83G|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.G96G|NFATC1_ENST00000592223.1_Silent_p.G83G|NFATC1_ENST00000427363.2_Silent_p.G96G	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	96					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGGACGGTGGGCCCGCGGGCT	0.687000													17	35					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218218	244218218	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:244218218G>T	ENST00000358704.4	+	2	1291	c.1142G>T	c.(1141-1143)tGc>tTc	p.C381F		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		ATCTTCATGTGCCCCCTGTGC	0.657000													18	56					4.75885e-15	7.02811e-15	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34037283	34037283	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:34037283G>T	ENST00000373381.4	-	51	7982	c.7806C>A	c.(7804-7806)ggC>ggA	p.G2602G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2604	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTCCATCGGCCATGCTCCA	0.483000													26	68					4.43304e-23	7.23344e-23	1	1	0
KDM2B	84678	broad.mit.edu	37	12	121891037	121891037	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:121891037C>G	ENST00000377069.4	-	13	2158	c.1752G>C	c.(1750-1752)aaG>aaC	p.K584N	KDM2B_ENST00000377071.4_Missense_Mutation_p.K615N|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.K498N	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	615					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGGCCTCGCACTTGCGGCATC	0.692000													5	11					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537881	36537881	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:36537881G>T	ENST00000397293.2	-	4	710	c.363C>A	c.(361-363)agC>agA	p.S121R	APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000349314.2_Missense_Mutation_p.S192R|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	192					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CGCCAGTGGAGCTGGACACCA	0.547000													15	34					2.23348e-06	2.69879e-06	1	1	0
UPK1B	7348	broad.mit.edu	37	3	118913203	118913203	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:118913203G>T	ENST00000264234.3	+	6	755	c.606G>T	c.(604-606)ctG>ctT	p.L202L	UPK1B_ENST00000497685.1_Silent_p.L122L|UPK1B_ENST00000460625.1_Silent_p.L194L	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	202					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CTCTCAACCTGGAGGCTTGTA	0.453000													22	62					4.35082e-09	5.67653e-09	1	1	0
LMO7	4008	broad.mit.edu	37	13	76287385	76287385	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:76287385G>T	ENST00000357063.3	+	3	1553	c.293G>T	c.(292-294)tGt>tTt	p.C98F	LMO7_ENST00000341547.4_Missense_Mutation_p.C98F|LMO7_ENST00000377534.3_Missense_Mutation_p.C98F|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	98	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GTTCTGCTGTGTGAGTAAGTA	0.363000													22	8					1.10513e-12	1.54962e-12	1	1	0
CHRNA4	1137	broad.mit.edu	37	20	61991020	61991020	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:61991020G>T	ENST00000370263.4	-	2	329	c.108C>A	c.(106-108)gcC>gcA	p.A36A	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	36					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCCGCTCCTCGGCGTGGGCCC	0.667000													16	23					4.14922e-12	5.7423e-12	1	1	0
CFTR	1080	broad.mit.edu	37	7	117230459	117230459	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:117230459C>G	ENST00000003084.6	+	13	1864	c.1732C>G	c.(1732-1734)Cta>Gta	p.L578V	CFTR_ENST00000454343.1_Missense_Mutation_p.L517V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	578	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTTGGATACCTAGATGTTTT	0.294000									Cystic Fibrosis				13	71					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687123	68687123	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:68687123C>A	ENST00000361320.4	+	2	1027	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	150						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TCTCTGGGATCTGAACAGTTT	0.448000													47	98					2.22293e-35	3.85389e-35	1	1	0
TUBB1	81027	broad.mit.edu	37	20	57599155	57599155	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:57599155C>G	ENST00000217133.1	+	4	942	c.673C>G	c.(673-675)Ctc>Gtc	p.L225V		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	225					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTATGGGGATCTCAACCACCT	0.557000													30	99					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													5	114					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762443	24762443	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:24762443A>G	ENST00000376451.2	+	2	547	c.287A>G	c.(286-288)gAc>gGc	p.D96G	KIAA1217_ENST00000376462.1_Missense_Mutation_p.D298G|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D378G|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D378G|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D378G|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D96G|KIAA1217_ENST00000307544.6_Missense_Mutation_p.D96G|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D299G|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D96G			Q5T5P2	SKT_HUMAN	KIAA1217	378					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTGATGAAGACATGAGTGGC	0.488000													12	191					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107602082	107602082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:107602082G>A	ENST00000393561.1	-	14	2153	c.1969C>T	c.(1969-1971)Cga>Tga	p.R657*	LAMB1_ENST00000393560.1_Nonsense_Mutation_p.R633*|LAMB1_ENST00000222399.6_Nonsense_Mutation_p.R633*			P07942	LAMB1_HUMAN	laminin, beta 1	633	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.R633*(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCCAGGTCGCTGCACTGTG	0.473000													11	61					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23829249	23829249	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:23829249C>A	ENST00000216733.3	-	4	1046		c.e4-1		EFS_ENST00000351354.3_Splice_Site|EFS_ENST00000429593.2_Splice_Site	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate						cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CATCGTAGACCTGCGGAAAGG	0.637000													25	32					3.28513e-13	4.65758e-13	1	1	0
FSCB	84075	broad.mit.edu	37	14	44974188	44974188	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:44974188G>T	ENST00000340446.4	-	1	2294	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	668	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGAACTTCAGCGGGGGCCTC	0.617000													15	8					1.5739e-10	2.11845e-10	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618118	77618118	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:77618118G>T	ENST00000521891.2	+	2	2243	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G599C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G599C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G599C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTACTCCTGGCACACCAGG	0.572000										HNSCC(33;0.089)			31	36					1.61788e-16	2.42872e-16	1	1	0
ACHE	43	broad.mit.edu	37	7	100490117	100490117	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:100490117C>A	ENST00000302913.4	-	3	1529	c.1391G>T	c.(1390-1392)cGt>cTt	p.R464L	ACHE_ENST00000412389.1_Missense_Mutation_p.R464L|ACHE_ENST00000241069.5_Missense_Mutation_p.R464L|ACHE_ENST00000419336.2_Missense_Mutation_p.R376L|ACHE_ENST00000411582.1_Missense_Mutation_p.R464L|ACHE_ENST00000428317.1_Missense_Mutation_p.R464L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	464					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGTGGAAGCACGGTGTTCAAA	0.647000													4	71					0.00909568	0.00949762	1	1	0
SPAG9	9043	broad.mit.edu	37	17	49197817	49197817	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:49197817C>T	ENST00000262013.7	-	1	409	c.201G>A	c.(199-201)caG>caA	p.Q67Q	SPAG9_ENST00000357122.4_Silent_p.Q67Q|SPAG9_ENST00000505279.1_Silent_p.Q67Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	67					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTCCTGGTCCTGCGCGAACA	0.637000													6	30					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541633	187541633	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:187541633C>T	ENST00000441802.2	-	10	6316	c.6107G>A	c.(6106-6108)gGc>gAc	p.G2036D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2036	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAAGGGCGTGCCAGTGGTTGA	0.493000										HNSCC(5;0.00058)			107	118					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10846519	10846519	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:10846519G>C	ENST00000283027.5	+	4	330	c.311G>C	c.(310-312)gGa>gCa	p.G104A	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.G104A	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	104					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AAGATAATGGGATTGGAAGGA	0.438000													4	75					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344665	40344665	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:40344665G>A	ENST00000301671.8	-	4	924	c.483C>T	c.(481-483)ccC>ccT	p.P161P	GHDC_ENST00000414034.3_Silent_p.P161P|GHDC_ENST00000593209.1_Silent_p.P161P|GHDC_ENST00000436923.2_Silent_p.P161P|GHDC_ENST00000587427.1_Silent_p.P161P|GHDC_ENST00000428494.2_Silent_p.P122P			Q8N2G8	GHDC_HUMAN	GH3 domain containing	161						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCAGGGGTCGGGGCCAAGGGG	0.667000													15	57					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58750695	58750695	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:58750695A>G	ENST00000245206.5	-	7	853	c.725T>C	c.(724-726)tTt>tCt	p.F242S	GOT2_ENST00000564400.1_Intron|GOT2_ENST00000434819.2_Missense_Mutation_p.F199S	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	242					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCCATGTCAAAGAACGCAAA	0.463000													17	35					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065648	55065648	+	RNA	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:55065648C>A	ENST00000526016.1	-	0	60					NR_038174.2																						CCGGCAAAAGCTGTGCCCACA	0.488000													37	44					4.62619e-21	7.39727e-21	1	1	0
CX3CL1	6376	broad.mit.edu	37	16	57415950	57415950	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:57415950C>A	ENST00000565912.1	+	2	2792	c.86C>A	c.(85-87)aCg>aAg	p.T29K	CX3CL1_ENST00000006053.6_Missense_Mutation_p.T67K|CX3CL1_ENST00000564948.1_Silent_p.R27R|CX3CL1_ENST00000563383.1_Missense_Mutation_p.T73K			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	67	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCTTGGAGACGAGACAGCAC	0.597000													15	59					1.05317e-09	1.39403e-09	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67031487	67031487	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:67031487C>A	ENST00000340001.4	-	8	1239	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	ABCA9_ENST00000453985.2_Missense_Mutation_p.G343V|ABCA9_ENST00000370732.2_Missense_Mutation_p.G343V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	343					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCCCAGGATCCCCCAAAAGAC	0.438000													17	73					3.45872e-05	4.01942e-05	1	1	0
C7orf60	154743	broad.mit.edu	37	7	112462055	112462055	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:112462055A>G	ENST00000297145.4	-	5	1127	c.962T>C	c.(961-963)aTc>aCc	p.I321T		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	321										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTTAGAGAGATTTTCCTAAA	0.358000													14	68					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35753763	35753763	+	Missense_Mutation	SNP	G	G	T	rs79487218	by1000genomes	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:35753763G>T	ENST00000440995.2	+	24	3353	c.3353G>T	c.(3352-3354)cGg>cTg	p.R1118L	SPEF2_ENST00000356031.3_Missense_Mutation_p.R1123L|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1123					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGATGCCCGGAAGGAAGAG	0.493000													52	318					3.50607e-19	5.45578e-19	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29670432	29670432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:29670432G>T	ENST00000256062.5	-	14	2246	c.1773C>A	c.(1771-1773)taC>taA	p.Y591*	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.Y699*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.Y761*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.Y723*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	699						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAGCCTCTTCGTATCGGCCAG	0.488000													61	87					2.59843e-28	4.38571e-28	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29115246	29115246	+	RNA	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:29115246G>T	ENST00000564580.1	+	0	1360				CTB-134H23.3_ENST00000562618.1_RNA																							gagccactgcgcccagccAGG	0.458000													4	6					0.150653	0.153541	1	1	0
BRCA1	672	broad.mit.edu	37	17	41243708	41243708	+	Silent	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:41243708A>G	ENST00000309486.4	-	9	3979	c.2952T>C	c.(2950-2952)tcT>tcC	p.S984S	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Silent_p.S1280S|BRCA1_ENST00000354071.3_Silent_p.S1280S|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Silent_p.S1280S|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Silent_p.S1233S|BRCA1_ENST00000471181.2_Silent_p.S1280S|BRCA1_ENST00000468300.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1280					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATGTTCCTGAGATGCCTTTG	0.398000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			90	105					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170591670	170591670	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:170591670A>G	ENST00000392647.2	+	2	390	c.146A>G	c.(145-147)cAt>cGt	p.H49R	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.H49R	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	49	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						ATAATTTTCCATTGTCACCGA	0.353000													60	85					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133329850	133329850	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:133329850C>T	ENST00000260810.5	-	25	4302	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1391	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTAATACCTCAACAATGCCA	0.328000								Other conserved DNA damage response genes					15	76					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152492776	152492776	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:152492776C>A	ENST00000397345.3	-	64	9269	c.9067G>T	c.(9067-9069)Gtg>Ttg	p.V3023L	NEB_ENST00000603639.1_Missense_Mutation_p.V3023L|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.V3023L|NEB_ENST00000427231.2_Missense_Mutation_p.V3023L|NEB_ENST00000172853.10_Intron	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3023					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)		TTGGCCGCCACGATGGGGATG	0.438000													19	10					2.4624e-09	3.23253e-09	1	1	0
TTC40	54777	broad.mit.edu	37	10	134623945	134623945	+	Silent	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:134623945T>C	ENST00000368586.5	-	57	7732	c.7632A>G	c.(7630-7632)tcA>tcG	p.S2544S	TTC40_ENST00000263170.5_Silent_p.S705S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	705										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACTCATCTTCTGAAGGAGACG	0.627000													22	79					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73521611	73521611	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:73521611C>G	ENST00000394957.3	-	2	313	c.255G>C	c.(253-255)gaG>gaC	p.E85D	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	85	Ig-like.			E -> K (in Ref. 2; AAL55778).		integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGGGCCGGCGCTCTGAGCAGG	0.652000													4	65					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32961855	32961855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:32961855G>T	ENST00000321639.5	+	8	1784	c.1456G>T	c.(1456-1458)Gag>Tag	p.E486*		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	486						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGAGGAGGAGGAGGAGCGGCG	0.617000													14	28					9.05144e-12	1.2419e-11	1	1	0
UBE4A	9354	broad.mit.edu	37	11	118242371	118242371	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:118242371C>A	ENST00000252108.3	+	5	682	c.551C>A	c.(550-552)gCc>gAc	p.A184D	UBE4A_ENST00000431736.2_Missense_Mutation_p.A184D	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	184					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCCAGAGAGCCAAGGAAGAG	0.413000													21	40					6.44725e-10	8.58736e-10	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321471	52321471	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:52321471G>T	ENST00000356297.4	-	17	2813	c.2713C>A	c.(2713-2715)Cgg>Agg	p.R905R	PXDNL_ENST00000543296.1_Silent_p.R905R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	905					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)				TGGGATTCCCGCTCCGAGCTC	0.587000													20	34					3.99206e-14	5.78848e-14	1	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181585	128181585	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:128181585G>A	ENST00000469083.1	-	2	3061	c.504C>T	c.(502-504)tcC>tcT	p.S168S	DNAJB8_ENST00000319153.3_Silent_p.S168S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	168					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		AGCCCCCGAAGGAGGTGGATG	0.597000													22	41					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010523	78010523	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:78010523G>T	ENST00000435339.2	+	2	562	c.157G>T	c.(157-159)Ggt>Tgt	p.G53C	LPAR4_ENST00000373301.2_Missense_Mutation_p.G53C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	53						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTCATCTTGGGTCTGATAAC	0.398000													104	48					5.40725e-42	9.50365e-42	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140281653	140281653	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:140281653G>T	ENST00000458420.3	+	14	2403	c.2212_splice	c.e14-1	p.G738_splice		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	738					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTGGCACAGGTGTGGGCTCC	0.572000										HNSCC(16;0.037)			9	29					0.000442599	0.000494533	1	1	0
DHRS9	10170	broad.mit.edu	37	2	169948376	169948376	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:169948376G>T	ENST00000327239.4	+	7	2153	c.649G>T	c.(649-651)Gta>Tta	p.V217L	DHRS9_ENST00000602501.1_Missense_Mutation_p.V217L|DHRS9_ENST00000357546.2_Missense_Mutation_p.V217L|DHRS9_ENST00000436483.2_Missense_Mutation_p.V217L|DHRS9_ENST00000428522.1_Missense_Mutation_p.V217L|DHRS9_ENST00000421653.1_Missense_Mutation_p.V70L|DHRS9_ENST00000432060.2_Missense_Mutation_p.V277L|DHRS9_ENST00000412271.1_Missense_Mutation_p.V217L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	217					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGCAGATCCAGTAAAGGTAAT	0.413000													18	36					3.32936e-07	4.13255e-07	1	1	0
OR4S2	219431	broad.mit.edu	37	11	55418589	55418589	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:55418589T>G	ENST00000312422.2	+	1	210	c.210T>G	c.(208-210)tgT>tgG	p.C70W		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGACATTTGTTACTCTTCAG	0.428000													6	129					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27335364	27335364	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:27335364C>G	ENST00000376087.4	-	18	2068	c.1903G>C	c.(1903-1905)Ggg>Cgg	p.G635R	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G651R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.G192R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	634						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTGGCCTTCCCAAACACTGGT	0.398000													18	53					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770228	38770228	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:38770228G>A	ENST00000449082.2	-	15	2444	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	815					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTTCGGTTGTTACGGTAGT	0.532000													10	49					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97311456	97311456	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:97311456G>T	ENST00000389672.5	+	12	2425	c.2386_splice	c.e12-1	p.R796_splice	EPHA6_ENST00000502694.1_Splice_Site_p.R188_splice|EPHA6_ENST00000514100.1_Splice_Site_p.R188_splice|EPHA6_ENST00000442602.2_Splice_Site_p.R162_splice	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	701	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCTTAAAAGGATCCTTCCCG	0.433000													12	29					4.93089e-13	6.95997e-13	1	1	0
KLHL26	55295	broad.mit.edu	37	19	18780076	18780076	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:18780076C>G	ENST00000599006.1	+	4	457	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	KLHL26_ENST00000300976.4_3'UTR			Q53HC5	KLH26_HUMAN	kelch-like family member 26	0										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCCGGGACCCTGGCCTGACC	0.706000													17	25					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478592	69478592	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:69478592C>A	ENST00000374519.2	-	1	1062	c.883G>T	c.(883-885)Gcc>Tcc	p.A295S		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						TTGGCACTGGCCAGGGGCCGA	0.572000													15	5					0.000308642	0.000346679	1	1	0
OR2T11	127077	broad.mit.edu	37	1	248790395	248790395	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:248790395A>T	ENST00000330803.2	-	1	96	c.35T>A	c.(34-36)cTg>cAg	p.L12Q		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAAGCCCCAGGAGGGTGAA	0.522000													19	63					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152095961	152095961	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:152095961C>A	ENST00000409598.4	-	7	1722	c.555G>T	c.(553-555)ggG>ggT	p.G185G	SH3D19_ENST00000514152.1_Silent_p.G185G|SH3D19_ENST00000409252.2_Silent_p.G185G|SH3D19_ENST00000424281.1_Silent_p.G185G|SH3D19_ENST00000427414.2_Silent_p.G185G|SH3D19_ENST00000304527.4_Silent_p.G185G|SH3D19_ENST00000455740.1_Silent_p.G185G			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	185	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGGCTGGGGGCCCTTCTCCCA	0.562000													67	432					7.05995e-25	1.16993e-24	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113341695	113341695	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:113341695G>A	ENST00000401783.2	-	1	465	c.129C>T	c.(127-129)ccC>ccT	p.P43P	SVEP1_ENST00000374461.1_Silent_p.P20P|SVEP1_ENST00000374469.1_Silent_p.P20P|SVEP1_ENST00000302728.8_Silent_p.P43P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	43					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGATACTCCCGGGGGCCCCGG	0.741000													3	1					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140792938	140792938	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:140792938C>A	ENST00000398610.2	+	1	196	c.196C>A	c.(196-198)Cgc>Agc	p.R66S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCGGAGCGCGGAGTCCG	0.607000													13	82					1.5842e-08	2.02956e-08	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839668	62839668	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:62839668G>A	ENST00000536311.1	+	7	1483	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	MYT1_ENST00000328439.1_Missense_Mutation_p.M373I|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	373					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGACATGATGACCCGGGGAA	0.627000													28	62					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18787350	18787350	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:18787350C>G	ENST00000396576.2	+	3	736	c.235C>G	c.(235-237)Cca>Gca	p.P79A	CACNB2_ENST00000282343.8_Missense_Mutation_p.P106A|CACNB2_ENST00000377315.4_Missense_Mutation_p.P86A|CACNB2_ENST00000377329.4_Missense_Mutation_p.P80A|CACNB2_ENST00000377331.2_Missense_Mutation_p.P106A|CACNB2_ENST00000377328.1_Missense_Mutation_p.P134A|CACNB2_ENST00000377319.3_Missense_Mutation_p.P79A|CACNB2_ENST00000352115.6_Missense_Mutation_p.P134A|CACNB2_ENST00000324631.7_Missense_Mutation_p.P134A	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	134					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGATGTTCCAGTGCCTGG	0.423000													6	79					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072651	197072651	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:197072651C>A	ENST00000367409.4	-	18	5986	c.5730G>T	c.(5728-5730)atG>atT	p.M1910I	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1910	IQ 11.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGGCCTTGGCCATTCTAAAAG	0.443000													88	78					1.42074e-37	2.47659e-37	1	1	0
MUC16	94025	broad.mit.edu	37	19	9073257	9073257	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:9073257T>A	ENST00000397910.4	-	3	14392	c.14189A>T	c.(14188-14190)gAc>gTc	p.D4730V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4732	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGACACGTCCTTGACATC	0.488000													49	74					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018170	61018170	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:61018170G>T	ENST00000406396.3	-	6	951	c.560C>A	c.(559-561)tCt>tAt	p.S187Y	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	187					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTTGGATGCAGAGTAGGCTGT	0.498000													42	72					5.20837e-25	8.65349e-25	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130841621	130841621	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:130841621C>A	ENST00000245255.3	+	13	1835	c.1563C>A	c.(1561-1563)gcC>gcA	p.A521A		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	521					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTACACCAGCCATGGGCATGC	0.368000													6	35					0.0215528	0.0223588	1	1	0
HRSP12	10247	broad.mit.edu	37	8	99129313	99129313	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:99129313C>G	ENST00000254878.3	-	1	156	c.12G>C	c.(10-12)ttG>ttC	p.L4F	HRSP12_ENST00000519155.1_5'UTR	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	4					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CCCTTCTGATCAAGGACGACA	0.607000													8	62					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549852	167549852	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:167549852C>T	ENST00000341935.5	+	3	686	c.134C>T	c.(133-135)tCc>tTc	p.S45F	CCR6_ENST00000349984.4_Missense_Mutation_p.S45F|CCR6_ENST00000400926.2_Missense_Mutation_p.S45F	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	45					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AGGCAGTTCTCCAGGCTATTT	0.443000													39	75					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681212	40681212	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:40681212C>T	ENST00000302472.3	+	2	1141	c.117C>T	c.(115-117)atC>atT	p.I39I	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	39					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGTGGCCATCGTGGTGCTGT	0.607000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	170					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672062	55672062	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:55672062C>T	ENST00000527223.2	-	9	1199	c.1198G>A	c.(1198-1200)Ggg>Agg	p.G400R	DNAAF3_ENST00000524407.2_Missense_Mutation_p.G332R|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.G379R|DNAAF3_ENST00000455045.1_Missense_Mutation_p.G278R	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	332																	TCCAGGTCCCCCCCGGTGGCT	0.677000											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	46					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106800951	106800951	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:106800951C>A	ENST00000407775.2	+	6	788	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q48K|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q48K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	180					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATAGGGGGTCAGCTTTGGTG	0.408000													26	52					1.17739e-12	1.64371e-12	1	1	0
NBPF22P	285622	broad.mit.edu	37	5	85592221	85592221	+	RNA	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:85592221C>A	ENST00000590707.1	+	0	1520					NR_003719.2																						GGGTCCTTCACTGAGGATTGA	0.413000													6	13					1	1	1	1	0
CD300LG	146894	broad.mit.edu	37	17	41926320	41926320	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:41926320G>T	ENST00000588884.1	+	2	502	c.438G>T	c.(436-438)agG>agT	p.R146S	CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000317310.4_Intron|CD300LG_ENST00000539718.1_Intron|CD300LG_ENST00000293396.8_Intron			Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	0						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAAGAGGGAGGGGTGGTGGGG	0.562000													7	32					0.00198382	0.00216355	1	1	0
DSCR3	10311	broad.mit.edu	37	21	38639552	38639552	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:38639552A>G	ENST00000309117.6	-	1	281	c.44T>C	c.(43-45)gTt>gCt	p.V15A	DSCR3_ENST00000399001.1_Missense_Mutation_p.V15A|DSCR3_ENST00000539844.1_Missense_Mutation_p.V15A|DSCR3_ENST00000398998.1_Missense_Mutation_p.V15A|DSCR3_ENST00000476950.1_Missense_Mutation_p.V15A|DSCR3_ENST00000288304.5_5'UTR|DSCR3_ENST00000399000.3_5'UTR	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	15					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						GGCGTGATAAACTTTATTCGC	0.627000													3	30					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61187137	61187137	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:61187137T>A	ENST00000216513.4	-	2	949	c.890A>T	c.(889-891)gAa>gTa	p.E297V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	297						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGATTCATCTTCAGTGCTGGG	0.488000													11	51					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105235931	105235931	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:105235931C>A	ENST00000339750.2	+	1	52	c.52C>A	c.(52-54)Cgc>Agc	p.R18S	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCATGCAGCGCTCCCAGAG	0.657000										HNSCC(12;0.0054)			5	13					0.000602214	0.000671701	1	1	0
OR5H15	403274	broad.mit.edu	37	3	97888271	97888271	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:97888271C>A	ENST00000356526.2	+	1	728	c.728C>A	c.(727-729)gCc>gAc	p.A243D		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACCTGTGGAGCCCATCTCTTC	0.428000													17	37					4.14922e-12	5.7423e-12	1	1	0
FAM175B	23172	broad.mit.edu	37	10	126495432	126495432	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:126495432G>C	ENST00000298492.5	+	2	150	c.105G>C	c.(103-105)gaG>gaC	p.E35D		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	35	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						TAAGACAAGAGGAAACGTTTA	0.299000													17	89					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8426008	8426008	+	Silent	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:8426008A>G	ENST00000337907.3	-	14	1945	c.1311T>C	c.(1309-1311)taT>taC	p.Y437Y	RERE_ENST00000400907.2_Silent_p.Y437Y|RERE_ENST00000377464.1_Silent_p.Y169Y|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000460659.1_5'UTR|RERE_ENST00000400908.2_Silent_p.Y437Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	437	SANT.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCTTCTTCCAATAGTAATAGA	0.627000													12	25					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587358	200587358	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:200587358C>A	ENST00000367350.4	-	2	932	c.494G>T	c.(493-495)aGg>aTg	p.R165M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	165	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTACAATCCTTACATTTGT	0.338000													48	79					8.20599e-20	1.28634e-19	1	1	0
BRAF	673	broad.mit.edu	37	7	140482946	140482946	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:140482946C>T	ENST00000288602.6	-	10	1249	c.1189G>A	c.(1189-1191)Ggt>Agt	p.G397S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	397					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GCAGACAAACCTGTGGTTGAT	0.423000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	87					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513208	1513208	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:1513208G>A	ENST00000389470.4	-	43	6562	c.6563C>T	c.(6562-6564)cCg>cTg	p.P2188L	INTS1_ENST00000404767.3_Missense_Mutation_p.P1984L			Q8N201	INT1_HUMAN	integrator complex subunit 1	1984					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCACTGGAGCGGGTCGGCGTG	0.607000													11	26					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154519882	154519882	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:154519882G>A	ENST00000409663.3	+	21	2313	c.2261G>A	c.(2260-2262)aGa>aAa	p.R754K	KIAA0922_ENST00000440693.1_Missense_Mutation_p.R671K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.R755K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	754						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GACTGCCGTAGACGTGAGTTC	0.433000													7	67					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406035	55406035	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:55406035G>A	ENST00000314612.2	+	1	202	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTCACTCTCCGACCTTTGCTA	0.403000													43	25					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910466	35910466	+	Splice_Site	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:35910466A>T	ENST00000397367.2	-	3	442		c.e3+1		CAPSL_ENST00000397366.1_Splice_Site|CAPSL_ENST00000514524.1_Splice_Site	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like							cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GGGGCCACTTACTCTTAATGT	0.398000													29	118					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33406294	33406294	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:33406294T>A	ENST00000305768.4	-	14	1602	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	505						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GATTTTGCCATCCGAGTGTGT	0.393000													4	79					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412959	43412959	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:43412959T>C	ENST00000310826.5	-	3	1429	c.1246A>G	c.(1246-1248)Aca>Gca	p.T416A	ZBTB21_ENST00000398499.1_Missense_Mutation_p.T416A|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.T416A|ZBTB21_ENST00000398511.3_Missense_Mutation_p.T416A	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TCCCTGTCTGTTGACTGAGAA	0.542000													11	39					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209180	34209180	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:34209180G>T	ENST00000373381.4	-	14	2050	c.1874C>A	c.(1873-1875)cCg>cAg	p.P625Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	585	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACCCCAGACGGGCTGGTGAA	0.592000													19	50					1.33834e-09	1.76053e-09	1	1	0
ACTL6A	86	broad.mit.edu	37	3	179287650	179287650	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:179287650A>G	ENST00000429709.2	+	2	277	c.64A>G	c.(64-66)Act>Gct	p.T22A	ACTL6A_ENST00000392662.1_5'UTR|ACTL6A_ENST00000450518.2_5'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	22					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGGATCCTATACTGTGAGAGC	0.353000													10	66					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28547182	28547182	+	Silent	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:28547182T>A	ENST00000452236.2	-	2	1052	c.435A>T	c.(433-435)acA>acT	p.T145T	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	145				T -> A (in Ref. 3; BX647791).	DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTGCCCATATGTGCCCTGTG	0.398000													14	58					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70246956	70246956	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:70246956C>A	ENST00000265870.2	-	8	885	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	SLC25A16_ENST00000539557.1_Missense_Mutation_p.V165L|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	263					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CGACGAGTCACATCAAATGGG	0.328000													21	110					2.21704e-12	3.08836e-12	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228257	3228257	+	Missense_Mutation	SNP	C	C	A	rs143264543	byFrequency	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:3228257C>A	ENST00000217939.6	-	7	8141	c.7987G>T	c.(7987-7989)Ggg>Tgg	p.G2663W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2663	Ig-like C2-type 11.					extracellular region		p.G2663R(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCCCAGCCCCGGGAGGGGTG	0.592000													32	23					8.16721e-17	1.23476e-16	1	1	0
TAL1	6886	broad.mit.edu	37	1	47685826	47685826	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:47685826G>A	ENST00000371883.3	-	4	1144	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.R188W|TAL1_ENST00000371884.2_Missense_Mutation_p.R188W			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	188					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						AAGATACGCCGCACAACTTTG	0.557000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								4	49					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68564363	68564363	+	Silent	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:68564363T>A	ENST00000265641.5	-	7	886	c.732A>T	c.(730-732)ggA>ggT	p.G244G	CPT1A_ENST00000540367.1_Silent_p.G244G|CPT1A_ENST00000538994.1_5'UTR|CPT1A_ENST00000539743.1_Silent_p.G244G|CPT1A_ENST00000376618.2_Silent_p.G244G	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	244					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGGCCCTCGTCCTCGGAGGT	0.647000													37	12					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2013170	2013170	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:2013170C>A	ENST00000529806.1	-	2	451	c.265G>T	c.(265-267)Ggc>Tgc	p.G89C	RPS2_ENST00000526522.1_Missense_Mutation_p.G119C|RPS2_ENST00000343262.4_Missense_Mutation_p.G119C|RPS2_ENST00000530225.1_Missense_Mutation_p.G119C			P15880	RS2_HUMAN	ribosomal protein S2	119					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTGCGCTGGCCGGCACGGGTC	0.567000													3	10					1	1	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122845595	122845595	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:122845595T>C	ENST00000358808.2	-	5	1070	c.916A>G	c.(916-918)Agc>Ggc	p.S306G	CLIP1_ENST00000540338.1_Missense_Mutation_p.S306G|CLIP1_ENST00000537178.1_Missense_Mutation_p.S306G|CLIP1_ENST00000361654.4_Missense_Mutation_p.S306G|CLIP1_ENST00000302528.7_Missense_Mutation_p.S306G|CLIP1_ENST00000545889.1_Missense_Mutation_p.S7G	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	306	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CGCTTCAGGCTGGCGGACGTG	0.607000													4	55					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64519928	64519928	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:64519928T>C	ENST00000355086.3	+	19	2920	c.2396T>C	c.(2395-2397)gTg>gCg	p.V799A	SRGAP1_ENST00000357825.3_Missense_Mutation_p.V776A|SRGAP1_ENST00000543397.1_Missense_Mutation_p.V736A	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	799	SH3.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATATAGTGGTGCAGGATATG	0.522000													30	42					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135173644	135173644	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:135173644C>T	ENST00000372169.2	-	13	5786	c.5604G>A	c.(5602-5604)ccG>ccA	p.P1868P	SETX_ENST00000393220.1_Silent_p.P1868P|SETX_ENST00000224140.5_Silent_p.P1868P			Q7Z333	SETX_HUMAN	senataxin	1868					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTAAATTGGCCGGAAAGTTCT	0.393000													13	50					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022045	58022045	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:58022045C>A	ENST00000341156.4	-	9	1587	c.1002_splice	c.e9-1	p.G335_splice	B4GALNT1_ENST00000418555.2_Splice_Site_p.G280_splice	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	335					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCGAACCAGCCCTGGCAGAAA	0.592000													6	63					0.0293803	0.0303312	1	1	0
UBAP1	51271	broad.mit.edu	37	9	34249887	34249887	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:34249887G>A	ENST00000536252.1	+	6	1592	c.1194G>A	c.(1192-1194)acG>acA	p.T398T	UBAP1_ENST00000540348.1_Silent_p.T398T|UBAP1_ENST00000545103.1_Silent_p.T462T|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000297661.4_Silent_p.T398T|UBAP1_ENST00000359544.2_Silent_p.T398T|UBAP1_ENST00000543944.1_Silent_p.T434T	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	398	UBA 1.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTGTGGAGACGGTGGTCAACA	0.557000													49	32					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892177	16892177	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:16892177G>A	ENST00000430580.2	-	27	3902	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGCATAAAAGGAACTTCCAT	0.448000													41	1093					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16514615	16514615	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:16514615T>G	ENST00000602009.1	-	9	1988	c.1093A>C	c.(1093-1095)Att>Ctt	p.I365L	EPS15L1_ENST00000248070.6_Missense_Mutation_p.I519L|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I519L|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I519L|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I519L|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I519L			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	519	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCAGCCTGAATGCTCTGCTCC	0.542000													31	58					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805729	169805729	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:169805729G>T	ENST00000274629.4	-	4	997	c.555C>A	c.(553-555)tcC>tcA	p.S185S	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	185					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CCGCCAGGATGGACAGGTACT	0.632000													25	29					8.24728e-16	1.23226e-15	1	1	0
ZNF252P	286101	broad.mit.edu	37	8	146220633	146220633	+	RNA	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:146220633T>C	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						CCTGACCAACTTGTGATCCTA	0.418000													55	47					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768175	121768175	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:121768175G>C	ENST00000282561.3	+	2	339	c.182G>C	c.(181-183)tGt>tCt	p.C61S		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	61					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CAACCTGGTTGTGAAAATGTC	0.493000													28	27					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141766520	141766520	+	Splice_Site	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:141766520G>C	ENST00000475668.2	+	41	4972	c.4919_splice	c.e41+1	p.E1640_splice	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1640	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGCTCCATGAGTGAGTGTC	0.473000													132	140					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587194	55587194	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:55587194C>A	ENST00000373965.2	-	33	4741	c.4347G>T	c.(4345-4347)ccG>ccT	p.P1449P	PCDH15_ENST00000395430.1_Silent_p.P1439P|PCDH15_ENST00000361849.3_Silent_p.P1442P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Silent_p.P1444P|PCDH15_ENST00000395432.2_Silent_p.P1402P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.P1371P|PCDH15_ENST00000395445.1_Silent_p.P1449P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P1417P|PCDH15_ENST00000395438.1_Silent_p.P1442P|PCDH15_ENST00000320301.6_Silent_p.P1442P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1053P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1442					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)				GCGCACCTggcggaggcggcg	0.572000										HNSCC(58;0.16)			28	63					9.39395e-14	1.3529e-13	1	1	0
TBC1D28	254272	broad.mit.edu	37	17	18541189	18541189	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:18541189C>G	ENST00000345096.4	-	8	1184	c.485G>C	c.(484-486)aGa>aCa	p.R162T	TBC1D28_ENST00000405044.1_Missense_Mutation_p.R162T			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						GACTCCGAATCTTTGTATGAA	0.542000													6	77					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85946784	85946784	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:85946784G>T	ENST00000268638.5	+	5	917	c.495G>T	c.(493-495)ccG>ccT	p.P165P		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	165					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCCTTCCCCGCCGGAGGCCT	0.617000													9	105					5.4927e-09	7.15172e-09	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107605038	107605038	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:107605038C>A	ENST00000393561.1	-	12	1913	c.1729G>T	c.(1729-1731)Gat>Tat	p.D577Y	LAMB1_ENST00000393560.1_Missense_Mutation_p.D553Y|LAMB1_ENST00000222399.6_Missense_Mutation_p.D553Y			P07942	LAMB1_HUMAN	laminin, beta 1	553	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTAGTGATCCAGGGTGGCA	0.542000													19	109					5.35267e-07	6.57996e-07	1	1	0
GFOD1	54438	broad.mit.edu	37	6	13364977	13364977	+	Nonstop_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:13364977A>C	ENST00000379287.3	-	2	1835	c.1171T>G	c.(1171-1173)Tag>Gag	p.*391E	GFOD1_ENST00000379284.1_Nonstop_Mutation_p.*288E	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	0						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AATCTGTGCTAACAGTAGAGG	0.612000													6	17					0	0	1	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249316	90249316	+	RNA	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:90249316C>A	ENST00000468879.1	+	0	453																											GGATCTGGGACGGATTACACT	0.468000													117	243					5.62818e-54	1.00301e-53	1	1	0
CUBN	8029	broad.mit.edu	37	10	16979676	16979676	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:16979676G>T	ENST00000377833.4	-	39	5906	c.5841C>A	c.(5839-5841)tcC>tcA	p.S1947S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1947	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAAGAGTCGGAGTAAAAAT	0.463000													14	47					1.15088e-07	1.44255e-07	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8698484	8698484	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:8698484C>A	ENST00000378641.3	+	14	1977	c.1502C>A	c.(1501-1503)tCc>tAc	p.S501Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.S501Y|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.S501Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	501					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAGCCCTCATCCCCAGGAGCC	0.532000													12	21					1.61879e-10	2.16972e-10	1	1	0
RELN	5649	broad.mit.edu	37	7	103194274	103194274	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:103194274C>G	ENST00000424685.2	-	39	5961	c.5802G>C	c.(5800-5802)aaG>aaC	p.K1934N	RELN_ENST00000343529.5_Missense_Mutation_p.K1934N|RELN_ENST00000428762.1_Missense_Mutation_p.K1934N			P78509	RELN_HUMAN	reelin	1934					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCTTCTTTCTTACCTAAGG	0.358000													4	72					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													4	3					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415084	213415084	+	Silent	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:213415084C>G	ENST00000366960.3	+	11	2415	c.2265C>G	c.(2263-2265)ccC>ccG	p.P755P	RPS6KC1_ENST00000543470.1_Silent_p.P543P|RPS6KC1_ENST00000366959.3_Silent_p.P743P|RPS6KC1_ENST00000543354.1_Silent_p.P458P|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	755					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAGTGATCCCTCTGGGCCCA	0.433000													30	99					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70502132	70502132	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:70502132A>T	ENST00000310961.5	+	21	2432	c.2014A>T	c.(2014-2016)Act>Tct	p.T672S	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.T667S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	667						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCAGAATCAACTGATGAGTC	0.398000													18	66					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122665427	122665427	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:122665427C>T	ENST00000263461.6	+	27	3577	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1111						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						TGTTTTAAGGCGGTGGGTTGA	0.453000													15	63					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774610	140774610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:140774610G>T	ENST00000398604.2	+	1	2230	c.2230G>T	c.(2230-2232)Gag>Tag	p.E744*	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGTGTTGAGGAGGTACA	0.597000													14	38					1.36491e-13	1.96129e-13	1	1	0
MS4A3	932	broad.mit.edu	37	11	59834550	59834550	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:59834550C>A	ENST00000278865.3	+	5	551	c.478C>A	c.(478-480)Ccg>Acg	p.P160T	MS4A3_ENST00000395032.2_Missense_Mutation_p.P37T|MS4A3_ENST00000358152.2_Missense_Mutation_p.P114T|MS4A3_ENST00000534744.1_Missense_Mutation_p.P114T	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	160						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ATCAGAGTCACCGGACCTATG	0.358000													9	17					0.000673444	0.00074723	1	1	0
GTDC1	79712	broad.mit.edu	37	2	144903179	144903179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:144903179C>A	ENST00000409214.1	-	5	585	c.307G>T	c.(307-309)Gag>Tag	p.E103*	GTDC1_ENST00000409298.1_Nonsense_Mutation_p.E103*|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000392869.1_Nonsense_Mutation_p.E103*|GTDC1_ENST00000344850.4_Nonsense_Mutation_p.E103*|GTDC1_ENST00000241391.5_Nonsense_Mutation_p.E103*|GTDC1_ENST00000542155.1_Nonsense_Mutation_p.E103*|GTDC1_ENST00000392867.3_Nonsense_Mutation_p.E103*	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	103					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAATCCCTCTCCTGACATTTC	0.413000													16	76					6.94344e-10	9.22899e-10	1	1	0
PAQR5	54852	broad.mit.edu	37	15	69696023	69696023	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr15:69696023C>A	ENST00000340965.3	+	9	1523	c.855C>A	c.(853-855)gcC>gcA	p.A285A	RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000561153.1_Silent_p.A285A|RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000395407.2_Silent_p.A285A	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	285					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GGCTCCTGGCCACCTCCAAGC	0.498000													43	34					2.19962e-31	3.77247e-31	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76569582	76569582	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:76569582G>T	ENST00000307431.8	+	19	3278	c.2893G>T	c.(2893-2895)Ggg>Tgg	p.G965W	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G917W|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G893W|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G969W|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	966	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCAGCTATGGGAAGTTATG	0.507000													25	16					1.96895e-08	2.50736e-08	1	1	0
DPEP3	64180	broad.mit.edu	37	16	68010120	68010120	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:68010120C>T	ENST00000268793.4	-	9	1554	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	369					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ATCCTCCAGCCCCTGAGGGAA	0.612000													21	45					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19441958	19441958	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:19441958G>A	ENST00000375267.2	-	74	11000	c.10997C>T	c.(10996-10998)tCg>tTg	p.S3666L	UBR4_ENST00000375254.3_Missense_Mutation_p.S3666L|UBR4_ENST00000375217.2_Missense_Mutation_p.S3659L|UBR4_ENST00000375226.2_Missense_Mutation_p.S3642L|UBR4_ENST00000375218.3_Missense_Mutation_p.S81L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3666					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGGGACCGAGGCACTACA	0.537000													38	121					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038945	75038945	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:75038945C>G	ENST00000326665.5	-	14	2667	c.2449G>C	c.(2449-2451)Gag>Cag	p.E817Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	817	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGGCTGCTCTGCTGTTGGC	0.552000													30	99					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4851865	4851865	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:4851865G>A	ENST00000520002.1	-	1	629	c.74C>T	c.(73-75)aCt>aTt	p.T25I	CSMD1_ENST00000602723.1_Missense_Mutation_p.T25I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T25I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T25I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T25I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T25I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T25I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	25						integral to membrane		p.T25I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCGCTGCAGTGAGGAGCCT	0.657000													4	26					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85971437	85971437	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:85971437G>T	ENST00000372117.3	+	14	1622	c.1519G>T	c.(1519-1521)Gtg>Ttg	p.V507L	CDHR1_ENST00000440770.2_Missense_Mutation_p.V211L|CDHR1_ENST00000332904.3_Missense_Mutation_p.V507L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	507	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGGGCGAAGTGAAATATTC	0.577000													12	143					1.61879e-10	2.16972e-10	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130422696	130422696	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:130422696T>A	ENST00000356763.3	-	13	3526	c.2969A>T	c.(2968-2970)cAt>cTt	p.H990L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	990					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTATGCTCATGAAGATGGGC	0.403000													44	93					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31571647	31571647	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:31571647G>T	ENST00000356173.3	-	13	1185	c.1093C>A	c.(1093-1095)Ccg>Acg	p.P365T	SUN5_ENST00000375523.3_Missense_Mutation_p.P340T	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	365					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCTCTGGGCGGGGCCACAGAG	0.557000													59	83					2.14255e-21	3.44319e-21	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189916052	189916052	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:189916052C>A	ENST00000374866.3	-	42	3199	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	975					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)			TTACAGGTTGCCCATCTTCTC	0.512000													23	41					2.98393e-07	3.71826e-07	1	1	0
IGHV3-53	28420	broad.mit.edu	37	14	107048839	107048839	+	RNA	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:107048839C>A	ENST00000390627.2	-	0	401																											AGCCCCTTCCCTGGAGCCTGG	0.572000													17	251					1.33834e-09	1.76053e-09	1	1	0
CROCC	9696	broad.mit.edu	37	1	17250952	17250952	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:17250952A>T	ENST00000375541.5	+	3	398	c.329A>T	c.(328-330)aAg>aTg	p.K110M	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	110					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCGCCATTAAGTACAATGCG	0.657000													4	46					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035766	95035766	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:95035766C>A	ENST00000557004.1	+	5	1539	c.1118C>A	c.(1117-1119)gCt>gAt	p.A373D	SERPINA4_ENST00000555095.1_Missense_Mutation_p.A373D|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.A373D			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	373					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)		GTGGATGAGGCTGGCACCGAG	0.572000													4	32					0.00024832	0.000280404	1	1	0
KRT9	3857	broad.mit.edu	37	17	39728094	39728094	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:39728094T>A	ENST00000246662.4	-	1	216	c.151A>T	c.(151-153)Agt>Tgt	p.S51C	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	51	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCATAGCCACTAGAAGAGCTG	0.652000													8	11					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75602802	75602802	+	Silent	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:75602802G>C	ENST00000294638.5	+	4	787	c.123G>C	c.(121-123)gcG>gcC	p.A41A	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Silent_p.A31A	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	41						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCGAGGGAGCGGGGGACGAGG	0.721000													9	33					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036219	32036219	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:32036219G>A	ENST00000375244.3	-	17	6369	c.6168C>T	c.(6166-6168)taC>taT	p.Y2056Y	TNXB_ENST00000375247.2_Silent_p.Y2056Y			P22105	TENX_HUMAN	tenascin XB	2138					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						CGTGGAAGCCGTACAGGTTCA	0.632000													3	29					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16278829	16278829	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:16278829G>C	ENST00000205557.7	-	15	1959	c.1930C>G	c.(1930-1932)Ccc>Gcc	p.P644A	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	644	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGAGGCAGGGAGGGCTTTCC	0.582000													19	45					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081184	95081184	+	Missense_Mutation	SNP	A	A	T	rs11538070		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:95081184A>T	ENST00000553947.1	+	5	1369	c.481A>T	c.(481-483)Agt>Tgt	p.S161C	SERPINA3_ENST00000467132.1_Missense_Mutation_p.S136C|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S136C|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S136C|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	136					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GCTGCAGCTGAGTATGGGAAA	0.542000													38	30					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119153	3119153	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:3119153A>G	ENST00000304094.1	+	1	239	c.239A>G	c.(238-240)aAg>aGg	p.K80R		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ACCATCCCTAAGATGCTGGCC	0.473000													77	47					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733993	28733993	+	RNA	SNP	A	A	C	rs11556628		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:28733993A>C	ENST00000550043.1	+	0	398																											ATACCAACAGAGCTTCTGAAA	0.468000													11	118					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39898663	39898663	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:39898663C>T	ENST00000597629.1	+	2	397	c.323C>T	c.(322-324)tCg>tTg	p.S108L	ZFP36_ENST00000248673.3_Missense_Mutation_p.S102L|ZFP36_ENST00000594045.1_3'UTR			P26651	TTP_HUMAN	ZFP36 ring finger protein	102					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCACCCCCTCGCGCTACAAG	0.687000													13	96					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767877	77767877	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:77767877C>A	ENST00000521891.2	+	10	9168	c.8720C>A	c.(8719-8721)cCg>cAg	p.P2907Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2881Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2862Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2862Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2862						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAGCGGACCCGAGCTCCCCA	0.498000										HNSCC(33;0.089)			10	47					0.00829132	0.00878714	1	1	0
SNAPC4	6621	broad.mit.edu	37	9	139277798	139277798	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:139277798T>A	ENST00000298532.2	-	15	2191	c.1823A>T	c.(1822-1824)cAg>cTg	p.Q608L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	608					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTGCCGCCCTGGCTGGCACT	0.721000													4	7					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60150733	60150733	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:60150733G>T	ENST00000358246.1	+	2	312	c.119G>T	c.(118-120)gGg>gTg	p.G40V	MS4A7_ENST00000530234.2_Missense_Mutation_p.G40V|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.G40V|MS4A7_ENST00000534016.1_Missense_Mutation_p.G40V	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	40						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CTGCAGAACGGGCTGCCAACA	0.443000													31	38					1.75199e-13	2.5006e-13	1	1	0
TTN	7273	broad.mit.edu	37	2	179414719	179414719	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:179414719C>A	ENST00000589042.1	-	337	92070	c.91846G>T	c.(91846-91848)Gta>Tta	p.V30616L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V28975L|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V21551L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28048L|TTN_ENST00000342175.6_Missense_Mutation_p.V21743L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V21676L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28975	Fibronectin type-III 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCTTGTACTTTCACTTTA	0.358000													13	48					0.00010058	0.000114794	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140414421	140414421	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:140414421G>T	ENST00000406427.1	-	11	1368	c.1032C>A	c.(1030-1032)ggC>ggA	p.G344G	PNPLA7_ENST00000277531.4_Silent_p.G319G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	319					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTCTTCTTCGCCATAGAACA	0.597000													15	162					6.31663e-08	7.94873e-08	1	1	0
KLHL10	317719	broad.mit.edu	37	17	40003661	40003661	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:40003661C>A	ENST00000293303.4	+	4	1604	c.1452_splice	c.e4+1	p.A484_splice		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	484						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CATGTATATGCGGTAAGTTTA	0.378000													7	53					8.12818e-05	9.3102e-05	1	1	0
PTPDC1	138639	broad.mit.edu	37	9	96860191	96860191	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:96860191G>T	ENST00000375360.3	+	7	1521	c.1181G>T	c.(1180-1182)aGt>aTt	p.S394I	PTPDC1_ENST00000288976.3_Missense_Mutation_p.S446I	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	394							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTCAGCTACAGTGACTCAGAT	0.527000													30	23					5.77227e-19	8.93861e-19	1	1	0
NID2	22795	broad.mit.edu	37	14	52520995	52520995	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:52520995C>G	ENST00000216286.5	-	4	811	c.812G>C	c.(811-813)gGc>gCc	p.G271A	NID2_ENST00000541773.1_Missense_Mutation_p.G218A	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	271	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGAAGTGCTGCCGATATGGAA	0.502000													5	27					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	52					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435749	158435749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:158435749C>A	ENST00000289451.2	+	1	478	c.398C>A	c.(397-399)tCa>tAa	p.S133*		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTGCGCTACTCAGTGCTCATG	0.532000													98	136					1.31735e-33	2.26542e-33	1	1	0
CTDP1	9150	broad.mit.edu	37	18	77474522	77474522	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:77474522G>A	ENST00000299543.7	+	8	1209	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	CTDP1_ENST00000075430.7_Silent_p.E354E	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	354					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGGTCTCAGAGCCATCTCCGC	0.512000													14	32					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197143337	197143337	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:197143337C>A	ENST00000260983.2	-	15	3232	c.3050G>T	c.(3049-3051)cGg>cTg	p.R1017L	HECW2_ENST00000409111.1_Missense_Mutation_p.R661L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1017	Interaction with TP73.|WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AAGTGGGAGCCGGGGATCAAT	0.532000													15	49					1.3612e-06	1.65104e-06	1	1	0
CLEC17A	388512	broad.mit.edu	37	19	14698430	14698430	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:14698430C>A	ENST00000547437.1	+	3	203	c.126C>A	c.(124-126)acC>acA	p.T42T	CLEC17A_ENST00000397439.2_Silent_p.T42T|CLEC17A_ENST00000417570.1_Silent_p.T42T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	42						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGGAAGGGACCATGGAGGAGG	0.567000													8	12					1.08611e-07	1.36405e-07	1	1	0
TMTC3	160418	broad.mit.edu	37	12	88568433	88568433	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:88568433C>A	ENST00000266712.6	+	9	1469	c.1249C>A	c.(1249-1251)Cat>Aat	p.H417N		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	417						integral to membrane	binding	p.H417D(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GATACTCACTCATTCCTTAAA	0.333000													39	33					6.29468e-14	9.08599e-14	1	1	0
TP73	7161	broad.mit.edu	37	1	3646622	3646622	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:3646622G>T	ENST00000378295.4	+	11	1410	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W	TP73_ENST00000603362.1_Intron|TP73_ENST00000604074.1_Intron|TP73_ENST00000346387.4_Intron|TP73_ENST00000357733.3_Intron|TP73_ENST00000378280.1_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000354437.4_Missense_Mutation_p.G419W|TP73_ENST00000378285.1_Missense_Mutation_p.G370W|TP73_ENST00000378288.4_Missense_Mutation_p.G370W|TP73_ENST00000378290.4_Missense_Mutation_p.G348W	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	419					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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAAGGTGCACGGGGGCATGAA	0.662000													8	18					3.09899e-07	3.8541e-07	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157926482	157926482	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:157926482C>A	ENST00000389413.3	-	9	1546	c.1443G>T	c.(1441-1443)tcG>tcT	p.S481S	PTPRN2_ENST00000404321.2_Silent_p.S504S|PTPRN2_ENST00000409483.1_Silent_p.S443S|PTPRN2_ENST00000389418.4_Silent_p.S481S|PTPRN2_ENST00000389416.4_Silent_p.S464S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	481						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCTCCTCCTTCGAGGGCCCAG	0.652000													14	65					0.0167234	0.0174054	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179605563	179605563	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:179605563C>T	ENST00000467460.1	-	4	538	c.208G>A	c.(208-210)Gag>Aag	p.E70K	PEX5L_ENST00000392649.3_Missense_Mutation_p.E27K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E68K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E11K|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.E35K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E27K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E46K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E27K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	70					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCTTGTTGCTCATTCACCAGC	0.438000													27	116					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95134609	95134609	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:95134609C>T	ENST00000371501.4	-	23	2334	c.2212G>A	c.(2212-2214)Gtg>Atg	p.V738M	MYOF_ENST00000371502.4_Missense_Mutation_p.V738M|MYOF_ENST00000359263.4_Missense_Mutation_p.V738M|MYOF_ENST00000358334.5_Missense_Mutation_p.V725M			Q9NZM1	MYOF_HUMAN	myoferlin	738					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCATCCTCACAGCCGCCTCA	0.498000													34	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179658144	179658144	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:179658144A>C	ENST00000589042.1	-	9	1747	c.1523T>G	c.(1522-1524)gTa>gGa	p.V508G	TTN_ENST00000591111.1_Missense_Mutation_p.V508G|TTN_ENST00000460472.2_Missense_Mutation_p.V508G|TTN_ENST00000342992.6_Missense_Mutation_p.V508G|TTN_ENST00000342175.6_Missense_Mutation_p.V508G|TTN_ENST00000359218.5_Missense_Mutation_p.V508G|TTN_ENST00000360870.5_Missense_Mutation_p.V508G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	508							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATGAGTTACGTGCATCTG	0.403000													90	109					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719108	140719108	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:140719108G>T	ENST00000394576.2	+	1	570	c.570G>T	c.(568-570)aaG>aaT	p.K190N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGAACAAGTACCCAGAAC	0.577000													10	77					2.17888e-05	2.55069e-05	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40368822	40368822	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:40368822C>A	ENST00000221347.6	-	28	12533	c.12526G>T	c.(12526-12528)Gtg>Ttg	p.V4176L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4176	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTGGGCCACTGAAATCCGC	0.612000													67	204					9.40535e-28	1.58327e-27	1	1	0
ACOX3	8310	broad.mit.edu	37	4	8394170	8394170	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:8394170C>A	ENST00000356406.5	-	11	1267	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V	ACOX3_ENST00000413009.2_Missense_Mutation_p.G397V|ACOX3_ENST00000503233.1_Missense_Mutation_p.G397V	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	397					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GATCTCACGTCCAAGCTCTGC	0.542000													47	125					6.08268e-21	9.67768e-21	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81964568	81964568	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:81964568C>A	ENST00000356860.3	-	3	516		c.e3-1		CACNA2D1_ENST00000423588.1_Splice_Site|CACNA2D1_ENST00000356253.5_Splice_Site	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1							voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCTCATAAATCTGTGTGAAAG	0.323000													26	82					4.26978e-12	5.89636e-12	1	1	0
GPR98	84059	broad.mit.edu	37	5	90149128	90149128	+	Silent	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:90149128A>G	ENST00000405460.2	+	80	17328	c.17232A>G	c.(17230-17232)ccA>ccG	p.P5744P	GPR98_ENST00000425867.2_Silent_p.P1405P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5744					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGTTGCCCATATTTGTCAA	0.363000													49	35					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892865	58892865	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:58892865A>T	ENST00000343597.3	+	4	1486	c.1295A>T	c.(1294-1296)aAc>aTc	p.N432I	FAM111B_ENST00000411426.1_Missense_Mutation_p.N402I|FAM111B_ENST00000529618.1_Missense_Mutation_p.N402I	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	432							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AAGCAATTCAACATATATAAA	0.368000													59	58					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245789	166245789	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:166245789C>T	ENST00000357398.3	+	27	5763	c.5473C>T	c.(5473-5475)Ctg>Ttg	p.L1825L	SCN2A_ENST00000375437.2_Silent_p.L1825L|SCN2A_ENST00000375427.2_Silent_p.L1825L|SCN2A_ENST00000283256.6_Silent_p.L1825L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1825					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCAGATGCCCTGGATCCTCC	0.468000													39	158					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135124	156135124	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:156135124C>G	ENST00000329476.3	+	2	522	c.33C>G	c.(31-33)aaC>aaG	p.N11K	NPY2R_ENST00000506608.1_Missense_Mutation_p.N11K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	11					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)				CTGATGAGAACCAGACAGTGG	0.463000													19	103					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32341274	32341274	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:32341274G>T	ENST00000315285.3	+	7	1216	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M	SPAST_ENST00000345662.1_Missense_Mutation_p.R332M	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	364	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCTTCTCTGAGGCCTGAGGTA	0.323000													34	16					2.09667e-21	3.37796e-21	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:140559208G>T	ENST00000239444.2	+	1	1838	c.1593G>T	c.(1591-1593)cgG>cgT	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													71	228					6.00099e-30	1.02097e-29	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58827655	58827655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:58827655G>T	ENST00000355431.3	+	19	2348	c.1975G>T	c.(1975-1977)Gag>Tag	p.E659*	ARID4A_ENST00000348476.3_Nonsense_Mutation_p.E659*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.E659*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.E659*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	659					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGAGAGATGAGGAGAGGCA	0.403000													4	60					0.00909568	0.00949762	1	1	0
IGLL1	3543	broad.mit.edu	37	22	23915507	23915507	+	Silent	SNP	G	G	T	rs151337964	byFrequency	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:23915507G>T	ENST00000330377.2	-	3	705	c.588C>A	c.(586-588)gtC>gtA	p.V196V	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	196	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CTTCGTGCATGACCTGGCAGC	0.632000													33	58					7.11191e-15	1.04308e-14	1	1	0
NELL1	4745	broad.mit.edu	37	11	21581802	21581802	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:21581802G>A	ENST00000298925.5	+	18	2091	c.1938G>A	c.(1936-1938)ggG>ggA	p.G646G	NELL1_ENST00000325319.5_Silent_p.G561G|NELL1_ENST00000532434.1_Silent_p.G571G|NELL1_ENST00000357134.5_Silent_p.G618G|NELL1_ENST00000529218.1_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	618	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCTGGCAGGGGGCTTTGACT	0.522000													52	48					0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16817159	16817159	+	RNA	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:16817159C>T	ENST00000263511.4	-	0	1108					NR_023386.1																						CAGCTCCTTGCGGCTGCGTGT	0.647000													5	10					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339757	231339757	+	Splice_Site	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:231339757G>C	ENST00000444294.3	+	6	2531	c.1674_splice	c.e6+1	p.R558_splice	TRIM67_ENST00000366653.5_Splice_Site_p.R560_splice|TRIM67_ENST00000366652.2_Splice_Site_p.R560_splice|TRIM67_ENST00000449018.3_Splice_Site_p.R498_splice	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	560	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGACAGTTCCGGGTGAGGCCT	0.632000													14	24					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239059672	239059672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:239059672G>A	ENST00000409223.1	+	8	1810	c.1703G>A	c.(1702-1704)tGg>tAg	p.W568*	KLHL30_ENST00000305959.4_Nonsense_Mutation_p.W550*			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	568										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTCTCCAAGTGGACCCAGCCC	0.711000													3	4					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323175	61323175	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:61323175C>T	ENST00000283752.5	-	8	1032	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SERPINB3_ENST00000332821.8_Missense_Mutation_p.D245N|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	297					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.D297N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTCAACGTGTCCTTGAGGTCA	0.488000													39	71					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154099826	154099826	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:154099826G>T	ENST00000368559.3	-	9	1217	c.1146C>A	c.(1144-1146)gaC>gaA	p.D382E	NUP210L_ENST00000271854.3_Missense_Mutation_p.D382E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	382						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCAAAGACGTCTACTGTAA	0.358000													12	44					2.27111e-07	2.83555e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9074248	9074248	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:9074248C>A	ENST00000397910.4	-	3	13401	c.13198G>T	c.(13198-13200)Ggt>Tgt	p.G4400C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4402	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATATGGACCCTGTGTTGCA	0.473000													24	97					4.72057e-08	5.95203e-08	1	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781998	128781998	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:128781998C>A	ENST00000529694.1	+	2	1206	c.830C>A	c.(829-831)tCc>tAc	p.S277Y	KCNJ5_ENST00000338350.4_Missense_Mutation_p.S277Y|KCNJ5_ENST00000533599.1_Missense_Mutation_p.S277Y	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	277					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTGATCATCTCCCATGAGATC	0.527000													51	51					1.86633e-21	3.01448e-21	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57768951	57768951	+	Silent	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:57768951A>T	ENST00000371030.2	+	1	2877	c.2877A>T	c.(2875-2877)ggA>ggT	p.G959G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	959						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTCCCTGGGGACCAAGGCACA	0.592000													15	84					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231724	29231724	+	RNA	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:29231724G>A	ENST00000441381.1	+	0	195																											AATGGCAGCAGGATAAGGACC	0.423000													28	103					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532488	50532488	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:50532488G>A	ENST00000374144.3	+	3	2186	c.1898G>A	c.(1897-1899)tGt>tAt	p.C633Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.C633Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	633										endometrium(1)	1						TCCAGCTGGTGTCCAGACTCC	0.567000													6	16					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170148851	170148851	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:170148851G>A	ENST00000263816.3	-	7	966	c.681C>T	c.(679-681)ttC>ttT	p.F227F	LRP2_ENST00000443831.1_Silent_p.F227F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	227	LDL-receptor class A 6.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGGGCAAGTGAACTGGTAAC	0.468000													7	70					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41305156	41305156	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:41305156G>C	ENST00000357137.4	+	6	970	c.886G>C	c.(886-888)Gac>Cac	p.D296H	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.D273H	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	296					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TCGTGGCGCAGACATTTTAGC	0.478000													5	103					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77669555	77669555	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:77669555T>A	ENST00000407578.2	-	58	10403	c.10137A>T	c.(10135-10137)aaA>aaT	p.K3379N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.K3341N|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K3341N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAATGCCTTCTTTTACACTGG	0.443000													21	37					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4954450	4954450	+	RNA	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:4954450G>T	ENST00000592666.1	+	0	2483							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CAGGAGGGGGGCTTCGCGTCC	0.627000													6	20					4.096e-09	5.35502e-09	1	1	0
CTNND2	1501	broad.mit.edu	37	5	10973685	10973685	+	Silent	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:10973685G>C	ENST00000304623.8	-	22	3747	c.3558C>G	c.(3556-3558)acC>acG	p.T1186T	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.T753T|CTNND2_ENST00000359640.2_Silent_p.T1128T|CTNND2_ENST00000503622.1_Silent_p.T849T|CTNND2_ENST00000511377.1_Silent_p.T1095T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1186					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCAGGTGCATGGTGTACTCGC	0.537000													30	163					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22841067	22841067	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:22841067G>T	ENST00000400546.1	+	14	2108	c.1859G>T	c.(1858-1860)gGg>gTg	p.G620V	NCAM2_ENST00000284894.7_Missense_Mutation_p.G478V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	620	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACGATGGAGGGGCCCCTATT	0.388000													16	43					3.41278e-10	4.56469e-10	1	1	0
CHL1	10752	broad.mit.edu	37	3	432415	432415	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:432415G>A	ENST00000256509.2	+	21	3144	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	CHL1_ENST00000397491.2_Silent_p.V818V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	818	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCCATGGGGTGGACGTTATAA	0.378000													7	26					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875417	247875417	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:247875417G>A	ENST00000302084.2	-	1	688	c.641C>T	c.(640-642)aCc>aTc	p.T214I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGAGACAAAGGTGATGAGGCA	0.547000													74	101					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717292	47717292	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:47717292C>A	ENST00000360380.3	-	18	3743	c.3380G>T	c.(3379-3381)gGa>gTa	p.G1127V	STIL_ENST00000396221.2_Missense_Mutation_p.G1110V|STIL_ENST00000371877.3_Missense_Mutation_p.G1128V|STIL_ENST00000337817.5_Missense_Mutation_p.G1127V|STIL_ENST00000243182.6_Missense_Mutation_p.G1127V			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1127					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGTAGGAGTCCATATCTCTT	0.378000													57	158					1.11015e-26	1.85899e-26	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2692050	2692050	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:2692050C>A	ENST00000399655.1	+	15	2431	c.2166C>A	c.(2164-2166)ccC>ccA	p.P722P	CACNA1C_ENST00000399606.1_Silent_p.P722P|CACNA1C_ENST00000399641.1_Silent_p.P722P|CACNA1C_ENST00000399595.1_Silent_p.P722P|CACNA1C_ENST00000399617.1_Silent_p.P722P|CACNA1C_ENST00000399637.1_Silent_p.P722P|CACNA1C_ENST00000399629.1_Silent_p.P722P|CACNA1C_ENST00000399649.1_Silent_p.P722P|CACNA1C_ENST00000399597.1_Silent_p.P722P|CACNA1C_ENST00000399634.1_Silent_p.P722P|CACNA1C_ENST00000399591.1_Silent_p.P722P|CACNA1C_ENST00000399601.1_Silent_p.P722P|CACNA1C_ENST00000402845.3_Silent_p.P722P|CACNA1C_ENST00000406454.3_Silent_p.P722P|CACNA1C_ENST00000399621.1_Silent_p.P722P|CACNA1C_ENST00000399644.1_Silent_p.P722P|CACNA1C_ENST00000344100.3_Silent_p.P722P|CACNA1C_ENST00000335762.5_Silent_p.P747P|CACNA1C_ENST00000399638.1_Silent_p.P722P|CACNA1C_ENST00000399603.1_Silent_p.P722P|CACNA1C_ENST00000327702.7_Silent_p.P722P|CACNA1C_ENST00000480911.1_Silent_p.P722P|CACNA1C_ENST00000347598.4_Silent_p.P722P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	722					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATGGCGGCCCCTCTTTTCCAG	0.532000													6	10					0.00448238	0.00481441	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100552303	100552303	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:100552303C>A	ENST00000319509.7	+	1	1054	c.1054C>A	c.(1054-1056)Ccc>Acc	p.P352T						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACTTCTCCTCCCACCACCCC	0.468000													62	464					1.44317e-28	2.44229e-28	1	1	0
SLC30A5	64924	broad.mit.edu	37	5	68425393	68425393	+	Silent	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:68425393A>C	ENST00000396591.3	+	16	2857	c.2247A>C	c.(2245-2247)acA>acC	p.T749T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	749					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGGCTATGACAAAACAAATGG	0.353000													33	28					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44035402	44035402	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:44035402C>T	ENST00000359947.4	+	6	861	c.521C>T	c.(520-522)cCt>cTt	p.P174L	PTPRF_ENST00000372413.3_Missense_Mutation_p.P174L|PTPRF_ENST00000372414.3_Missense_Mutation_p.P174L|PTPRF_ENST00000438120.1_Missense_Mutation_p.P174L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	174	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACTTCCTTCCTGTAGACCCT	0.587000													8	57					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21552004	21552004	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:21552004G>T	ENST00000524240.1	-	8	1894	c.1244C>A	c.(1243-1245)tCc>tAc	p.S415Y	GFRA2_ENST00000400782.4_Missense_Mutation_p.S310Y|GFRA2_ENST00000518077.1_Missense_Mutation_p.S282Y|GFRA2_ENST00000517328.1_Missense_Mutation_p.S415Y	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	415						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TAACTCTTTGGAGTTGTTGGC	0.612000													4	9					0.150653	0.153541	1	1	0
LOX	4015	broad.mit.edu	37	5	121409844	121409844	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:121409844T>G	ENST00000231004.4	-	4	1198	c.899A>C	c.(898-900)gAg>gCg	p.E300A	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	300	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTGGCTAAACTCATCCATACT	0.443000													22	50					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414395	46414395	+	Translation_Start_Site	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:46414395T>C	ENST00000343801.4	+	3	359	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CCR5_ENST00000292303.4_Start_Codon_SNP_p.M1T|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Start_Codon_SNP_p.M1T	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	1					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGGAACAAGATGGATTATCAA	0.378000													25	74					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683125	31683125	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:31683125C>G	ENST00000319386.3	+	11	2690	c.1697C>G	c.(1696-1698)tCc>tGc	p.S566C	CCDC129_ENST00000407970.3_Missense_Mutation_p.S714C|CCDC129_ENST00000409210.1_Missense_Mutation_p.S622C|CCDC129_ENST00000451887.2_Missense_Mutation_p.S740C			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	714										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAGATGTCCTCCAGCCTGGTG	0.522000													18	166					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48794511	48794511	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:48794511T>C	ENST00000314191.2	-	38	4977	c.4921A>G	c.(4921-4923)Aaa>Gaa	p.K1641E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.K1641E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1642					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACTGCCATTTTAGTTTCGAGA	0.403000								Non-homologous end-joining					11	45					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149220167	149220167	+	Silent	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:149220167T>C	ENST00000407073.1	+	7	1127	c.130T>C	c.(130-132)Tta>Cta	p.L44L	MBD5_ENST00000404807.1_Silent_p.L44L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	44	MBD.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGGTCTTTGTTATCTTGCTT	0.343000													12	60					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586700	53586700	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:53586700C>A	ENST00000025008.5	-	7	1230	c.707G>T	c.(706-708)aGa>aTa	p.R236I	RB1CC1_ENST00000539297.1_Missense_Mutation_p.R236I|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R236I	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	236					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCAGTGGATCTTTTCATCTC	0.433000													107	114					1.13638e-54	2.03084e-54	1	1	0
F7	2155	broad.mit.edu	37	13	113768213	113768213	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:113768213C>A	ENST00000375581.3	+	5	404	c.369C>A	c.(367-369)gaC>gaA	p.D123E	F7_ENST00000541084.1_Missense_Mutation_p.D54E|F7_ENST00000346342.3_Missense_Mutation_p.D101E|F7_ENST00000473085.1_3'UTR	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	123	EGF-like 1; calcium-binding (Potential).				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCTGCAAGGACCAGCTCCAGT	0.597000													45	31					2.64894e-19	4.13209e-19	1	1	0
NDST3	9348	broad.mit.edu	37	4	119059388	119059388	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:119059388C>A	ENST00000296499.5	+	5	1807	c.1404C>A	c.(1402-1404)aaC>aaA	p.N468K	NDST3_ENST00000433996.2_Missense_Mutation_p.N387K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	468	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCACAAAAACATCATGGTGA	0.403000													26	38					1.2476e-16	1.88172e-16	1	1	0
P2RY12	64805	broad.mit.edu	37	3	151056584	151056584	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:151056584C>T	ENST00000302632.3	-	3	349	c.50G>A	c.(49-51)tGc>tAc	p.C17Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	17					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GTCTCTGGTGCACAGACTGGT	0.473000													21	29					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48896791	48896791	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:48896791C>A	ENST00000315869.7	-	3	634	c.375G>T	c.(373-375)gcG>gcT	p.A125A	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	125					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CCTGCTCCTGCGCCTGGGCCC	0.652000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								8	3					0.00448238	0.00481441	1	1	0
CENPB	1059	broad.mit.edu	37	20	3766380	3766380	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:3766380G>A	ENST00000379751.4	-	1	957	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	251					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TGGCCTGCGCGGGGCTTGGCC	0.697000													15	12					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47267577	47267577	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:47267577G>T	ENST00000396220.1	-	23	2694	c.2672C>A	c.(2671-2673)gCt>gAt	p.A891D	PREX1_ENST00000371941.3_Missense_Mutation_p.A891D			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	891					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTCATTGGCAGCAAAGGCCTC	0.552000													22	30					1.10513e-12	1.54962e-12	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55935574	55935574	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:55935574A>C	ENST00000244728.5	-	21	2385	c.1988T>G	c.(1987-1989)aTt>aGt	p.I663S	COL21A1_ENST00000370819.1_Missense_Mutation_p.I660S|COL21A1_ENST00000370808.2_Missense_Mutation_p.I63S|COL21A1_ENST00000535941.1_Missense_Mutation_p.I663S|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	663					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATCCCTTGAATTCCAGGTTC	0.328000													4	9					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35435441	35435441	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:35435441G>A	ENST00000439785.1	+	5	2018	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	ZNF30_ENST00000426813.2_Missense_Mutation_p.G443D|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.G524D|ZNF30_ENST00000303586.7_Missense_Mutation_p.G525D	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TTCAGTTCTGGCTCATACCTT	0.423000													8	40					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230606	147230606	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:147230606C>T	ENST00000271348.2	-	2	902	c.741G>A	c.(739-741)aaG>aaA	p.K247K	GJA5_ENST00000369237.1_Silent_p.K247K	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	247					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAAGCTGGCACTTAGCCATGT	0.567000													44	45					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107605039	107605039	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:107605039C>A	ENST00000393561.1	-	12	1912	c.1728G>T	c.(1726-1728)ctG>ctT	p.L576L	LAMB1_ENST00000393560.1_Silent_p.L552L|LAMB1_ENST00000222399.6_Silent_p.L552L			P07942	LAMB1_HUMAN	laminin, beta 1	552	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAGTGATCCAGGGTGGCAA	0.547000													19	108					5.35267e-07	6.57996e-07	1	1	0
PRLR	5618	broad.mit.edu	37	5	35084693	35084693	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:35084693G>T	ENST00000382002.5	-	5	678	c.252C>A	c.(250-252)aaC>aaA	p.N84K	PRLR_ENST00000513753.1_Missense_Mutation_p.N84K|PRLR_ENST00000542609.1_Missense_Mutation_p.N84K|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.N13K|PRLR_ENST00000348262.3_Missense_Mutation_p.N84K|PRLR_ENST00000231423.3_Missense_Mutation_p.N84K|PRLR_ENST00000310101.5_Missense_Mutation_p.N84K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	84	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTGGCAGGAGTTGGGGCCAC	0.433000													187	106					2.44375e-80	4.39187e-80	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48368090	48368090	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:48368090C>A	ENST00000380518.3	-	53	4263	c.4099G>T	c.(4099-4101)Gct>Tct	p.A1367S	COL2A1_ENST00000337299.6_Missense_Mutation_p.A1298S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1367	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTGTTGGGAGCCAGATTGTCA	0.572000													30	27					3.22433e-31	5.51508e-31	1	1	0
TRIP11	9321	broad.mit.edu	37	14	92471367	92471367	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:92471367C>A	ENST00000267622.4	-	11	3326	c.2953G>T	c.(2953-2955)Gac>Tac	p.D985Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	985					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTTTGAATGTCCTGTCTTTCT	0.343000			T	PDGFRB	AML								5	63					0.00116845	0.00128308	1	1	0
MASP1	5648	broad.mit.edu	37	3	186969470	186969470	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:186969470G>C	ENST00000337774.5	-	7	1352	c.963C>G	c.(961-963)ttC>ttG	p.F321L	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.F321L|MASP1_ENST00000392472.2_Missense_Mutation_p.F208L|MASP1_ENST00000169293.6_Missense_Mutation_p.F321L|MASP1_ENST00000392470.2_Missense_Mutation_p.F295L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	321	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTTGGTCTTTGAAGAAATACT	0.532000													22	76					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102231698	102231698	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:102231698G>T	ENST00000376180.3	+	5	866	c.647G>T	c.(646-648)tGt>tTt	p.C216F	ITGBL1_ENST00000376162.3_Missense_Mutation_p.C123F|ITGBL1_ENST00000545560.2_Missense_Mutation_p.C75F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	216	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGATAAATGTGAATTCCAG	0.443000													40	27					8.69298e-16	1.2928e-15	1	1	0
VEGFC	7424	broad.mit.edu	37	4	177648974	177648974	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:177648974C>A	ENST00000280193.2	-	3	925	c.510G>T	c.(508-510)ggG>ggT	p.G170G	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	170					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGCACTGCAGCCCCTCACTAT	0.517000													11	69					3.86212e-05	4.45575e-05	1	1	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162315	33162315	+	RNA	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:33162315C>A	ENST00000510327.1	-	0	346																											CTGGCACCAGCGCCGCAAAAC	0.557000													14	67					6.72482e-11	9.14805e-11	1	1	0
CSAD	51380	broad.mit.edu	37	12	53566323	53566323	+	Missense_Mutation	SNP	C	C	A	rs35851381		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:53566323C>A	ENST00000267085.4	-	5	550	c.317G>T	c.(316-318)cGc>cTc	p.R106L	CSAD_ENST00000542115.1_Missense_Mutation_p.R79L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000444623.1_Missense_Mutation_p.R79L|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000453446.2_Missense_Mutation_p.R79L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	79					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GACACTGTAGCGAATCACAGC	0.592000													17	28					0.000422831	0.000474106	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120437986	120437986	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:120437986A>G	ENST00000369400.1	-	1	1132	c.974T>C	c.(973-975)cTa>cCa	p.L325P		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	325	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTTGTATCTAGTAAAGTACT	0.418000													47	112					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275334	58275334	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:58275334G>C	ENST00000360374.2	-	1	244	c.245C>G	c.(244-246)gCa>gGa	p.A82G		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGACCGCAATGCAGCCACCGT	0.527000													21	30					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48617740	48617740	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:48617740C>A	ENST00000328333.8	-	55	5197	c.5090G>T	c.(5089-5091)gGg>gTg	p.G1697V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1697V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1697	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCGGCTCCCCACGGTCACC	0.637000													4	13					0.00024832	0.000280404	1	1	0
APC	324	broad.mit.edu	37	5	112177975	112177975	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:112177975G>A	ENST00000457016.1	+	16	7064	c.6684G>A	c.(6682-6684)agG>agA	p.R2228R	APC_ENST00000508376.2_Silent_p.R2228R|APC_ENST00000257430.4_Silent_p.R2228R|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2228	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R2228R(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCGAGGCAGGACAATGATTC	0.418000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			32	34					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031523	110031523	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:110031523G>T	ENST00000369870.3	+	7	853	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	280	SCA7.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGACTTTGACGTGCTGGTGGC	0.607000													4	75					0.00024832	0.000280404	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30518001	30518001	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:30518001C>A	ENST00000383096.3	-	23	2760	c.2578G>T	c.(2578-2580)Gat>Tat	p.D860Y	CCDC178_ENST00000403303.1_Missense_Mutation_p.D860Y|CCDC178_ENST00000581852.1_Missense_Mutation_p.D65Y|CCDC178_ENST00000406524.2_Missense_Mutation_p.D884Y|CCDC178_ENST00000402325.1_Missense_Mutation_p.D810Y|CCDC178_ENST00000583930.1_Missense_Mutation_p.D884Y|CCDC178_ENST00000579916.1_Missense_Mutation_p.D180Y|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000300227.8_Missense_Mutation_p.D822Y					coiled-coil domain containing 178																		CATGTGCCATCTGTCAAAGTC	0.343000													10	35					2.80697e-09	3.67731e-09	1	1	0
NOX4	50507	broad.mit.edu	37	11	89133421	89133421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:89133421G>A	ENST00000535633.1	-	10	1211	c.901C>T	c.(901-903)Cga>Tga	p.R301*	NOX4_ENST00000413594.2_Nonsense_Mutation_p.R346*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R159*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R301*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R301*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R301*|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R300*|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R301*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R301*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.R325*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R325*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	325	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTGACCATTCGGATTTCCATG	0.408000													6	63					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156696732	156696732	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:156696732A>C	ENST00000313146.6	-	1	1495	c.713T>G	c.(712-714)gTg>gGg	p.V238G	ISG20L2_ENST00000368219.1_Missense_Mutation_p.V238G	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	238	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTGGCATTCACCATGTGCTG	0.517000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	84					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10183846	10183846	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:10183846G>T	ENST00000256474.2	+	1	1155	c.315G>T	c.(313-315)acG>acT	p.T105T	VHL_ENST00000345392.2_Silent_p.T105T	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	105	Involved in binding to CCT complex.		T -> P (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G104fs*23(2)|p.T105_G106insRP(1)|p.G104fs*22(1)|p.G104fs*52(1)|p.R107_R108insTG(1)|p.G106fs*49(1)|p.T100_G106>S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCCTGGCACGGGCCGCCGCA	0.697000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				3	8					0.004672	0.00497619	1	1	0
MYH7	4625	broad.mit.edu	37	14	23884888	23884888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:23884888C>A	ENST00000355349.3	-	35	5269	c.5107G>T	c.(5107-5109)Gag>Tag	p.E1703*	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1703				EQ -> DE (in Ref. 13; CAA35940).|EQ -> DR (in Ref. 2; CAA37068 and 16; AAA36343).	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGCTCCTGCTCCGCCAGCTTC	0.637000													9	38					2.17888e-05	2.55069e-05	1	1	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971133	31971133	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:31971133C>T	ENST00000334897.3	-	1	86	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	21						intermediate filament		p.E21K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						CCTAGGCCTTCGTATCCACAG	0.567000													18	75					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2398049	2398049	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:2398049A>G	ENST00000202625.2	+	10	1569	c.1508A>G	c.(1507-1509)gAg>gGg	p.E503G	TGM6_ENST00000381423.1_Missense_Mutation_p.E503G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	503					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AAGGTGCTAGAGCCTCCCATG	0.657000													3	24					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068390	89068390	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:89068390C>A	ENST00000286614.6	-	8	1620	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	447	Hemopexin-like 3.				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						TTCCCGACGTCCTCCCACCAA	0.413000													11	55					5.50884e-06	6.55716e-06	1	1	0
CRYGN	155051	broad.mit.edu	37	7	151135213	151135213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:151135213C>A	ENST00000337323.2	-	2	265	c.139G>T	c.(139-141)Gga>Tga	p.G47*	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	47	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCCAGGCTCCGCTCTCCACG	0.592000													24	40					0.000295444	0.000332439	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50715320	50715320	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:50715320T>C	ENST00000449103.1	-	34	5352	c.5212A>G	c.(5212-5214)Aag>Gag	p.K1738E	PLXNB2_ENST00000359337.4_Missense_Mutation_p.K1738E			O15031	PLXB2_HUMAN	plexin B2	1738					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACAGCAGCTTGTTGCTGGGA	0.632000													3	4					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978724	119978724	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:119978724G>C	ENST00000307142.4	+	5	3617	c.3421G>C	c.(3421-3423)Ggt>Cgt	p.G1141R	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	790						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCTCCTCTCGGTCTAGTGGA	0.488000													14	72					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222217	50222217	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:50222217G>C	ENST00000002829.3	+	13	1910	c.1426G>C	c.(1426-1428)Ggg>Cgg	p.G476R	SEMA3F_ENST00000434342.1_Missense_Mutation_p.G445R|SEMA3F_ENST00000413852.1_Missense_Mutation_p.G377R	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	476	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGCAGCCGACGGGCGCTATGA	0.682000													9	18					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149313562	149313562	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:149313562A>T	ENST00000255266.5	-	3	767	c.648T>A	c.(646-648)aaT>aaA	p.N216K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	216	GAF 1.		N -> S (in dbSNP:rs10057110).		cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATTTGCAAAATTGAGGTACT	0.453000													11	4					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607999	46607999	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:46607999T>A	ENST00000239174.6	-	1	360	c.268A>T	c.(268-270)Agc>Tgc	p.S90C	HOXB1_ENST00000577092.1_Missense_Mutation_p.S90C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	90						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCTGGGGCTGCAGGCGGCA	0.652000													14	110					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948642	82948642	+	Splice_Site	SNP	T	T	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:82948642T>G	ENST00000274341.4	-	3	952	c.100_splice	c.e3-1	p.A34_splice	HAPLN1_ENST00000514416.1_Splice_Site_p.A34_splice	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	34					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGCCATTTTCTGCTATAATTA	0.323000													25	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084409	9084409	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:9084409G>T	ENST00000397910.4	-	1	7609	c.7406C>A	c.(7405-7407)tCt>tAt	p.S2469Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2469	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTGGTCTAGACCAGGCTAA	0.522000													9	58					0.000442599	0.000494533	1	1	0
TLL2	7093	broad.mit.edu	37	10	98138814	98138814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:98138814G>A	ENST00000357947.3	-	17	2455	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	744	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACTCATGCTGACACCCGCCG	0.557000													26	55					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966243	20966243	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:20966243G>A	ENST00000261383.3	-	55	10962	c.10963C>T	c.(10963-10965)Cct>Tct	p.P3655S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3655	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGAACACAGGATCTGAGATG	0.498000													16	118					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4008964	4008964	+	Missense_Mutation	SNP	C	C	T	rs146705640	by1000genomes	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:4008964C>T	ENST00000404826.2	+	11	1761	c.1622C>T	c.(1621-1623)gCg>gTg	p.A541V	SDK1_ENST00000389531.3_Missense_Mutation_p.A541V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	541	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTACAGATCGCGCCCGTCTTC	0.552000													142	587					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111749769	111749769	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:111749769G>A	ENST00000524880.1	-	1	380	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.L30F			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	330					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GTGGCGGTAAGTTGAGTGCTC	0.677000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17264927	17264927	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:17264927C>A	ENST00000331428.5	-	4	1064	c.962G>T	c.(961-963)tGc>tTc	p.C321F		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	321						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	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)				TGCTGACCAGCAGGAGAAGTT	0.428000													34	61					4.14481e-20	6.52935e-20	1	1	0
LOC101929006	101929006	broad.mit.edu	37	6	29231693	29231693	+	RNA	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:29231693G>T	ENST00000441381.1	+	0	164																											ATATATGGGGGTTTGGAGATG	0.398000													38	123					3.28013e-08	4.15223e-08	1	1	0
GNAL	2774	broad.mit.edu	37	18	11864539	11864539	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:11864539T>C	ENST00000334049.6	+	7	1393	c.785T>C	c.(784-786)cTc>cCc	p.L262P	GNAL_ENST00000423027.3_Missense_Mutation_p.L185P|GNAL_ENST00000535121.1_Missense_Mutation_p.L185P|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000269162.5_Missense_Mutation_p.L185P|GNAL_ENST00000602628.1_5'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	185					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						CAGGACCTCCTCAGATGCAGA	0.433000													31	206					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013645	133013645	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:133013645G>A	ENST00000367928.4	-	5	918	c.905C>T	c.(904-906)tCg>tTg	p.S302L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	302	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ATCCAGTTGCGAGAGGAGGAG	0.443000													6	38					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57262910	57262910	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:57262910A>T	ENST00000262293.4	+	4	701	c.389A>T	c.(388-390)cAg>cTg	p.Q130L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	130										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCAAGCTCCAGGAAGCACTG	0.363000													27	40					0	0	1	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106962979	106962979	+	RNA	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:106962979C>A	ENST00000390621.2	-	0	360																											GGCTGCTCAGCTCCATGTAGG	0.498000													14	174					4.3838e-07	5.4098e-07	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160049536	160049536	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:160049536C>A	ENST00000327245.5	-	14	2523	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	559					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCCAACCACAGGGCAGCAT	0.493000													19	24					8.34094e-07	1.01945e-06	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85971440	85971440	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:85971440A>G	ENST00000372117.3	+	14	1625	c.1522A>G	c.(1522-1524)Aaa>Gaa	p.K508E	CDHR1_ENST00000440770.2_Missense_Mutation_p.K212E|CDHR1_ENST00000332904.3_Missense_Mutation_p.K508E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	508	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGGCGAAGTGAAATATTCCAC	0.572000													12	142					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707945	14707945	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:14707945C>A	ENST00000547437.1	+	10	695	c.618C>A	c.(616-618)agC>agA	p.S206R	CLEC17A_ENST00000397439.2_Missense_Mutation_p.S189R|CLEC17A_ENST00000417570.1_Missense_Mutation_p.S206R	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	206						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAATGTTAAGCTTTCAGCAGA	0.488000													4	8					0.00909568	0.00949762	1	1	0
MPP4	58538	broad.mit.edu	37	2	202545744	202545744	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:202545744G>T	ENST00000409474.3	-	10	953	c.746C>A	c.(745-747)gCc>gAc	p.A249D	MPP4_ENST00000409143.1_Missense_Mutation_p.A222D|MPP4_ENST00000396886.3_Missense_Mutation_p.A205D|MPP4_ENST00000315506.7_Intron|MPP4_ENST00000447335.2_Missense_Mutation_p.A249D|MPP4_ENST00000359962.5_Missense_Mutation_p.A249D|MPP4_ENST00000428900.2_Missense_Mutation_p.A249D	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	249	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CTCAGTCATGGCACGGACGTA	0.547000											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	20					3.59834e-05	4.15895e-05	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59885879	59885879	+	Silent	SNP	G	G	A	rs147739458		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:59885879G>A	ENST00000259008.2	-	7	1134	c.867C>T	c.(865-867)gtC>gtT	p.V289V	BRIP1_ENST00000577598.1_Silent_p.V289V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	289	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGAAGTTACCGACTACCTCAG	0.403000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					25	96					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390210	89390210	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:89390210T>C	ENST00000336596.2	+	4	1184	c.959T>C	c.(958-960)aTg>aCg	p.M320T	EPHA3_ENST00000452448.2_Missense_Mutation_p.M320T|EPHA3_ENST00000494014.1_Missense_Mutation_p.M320T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	320	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTCCATCCATGGCTTGTACC	0.443000										TSP Lung(6;0.00050)			14	87					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8319964	8319964	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:8319964G>T	ENST00000381196.4	-	42	6080	c.5537C>A	c.(5536-5538)gCg>gAg	p.A1846E	PTPRD_ENST00000355233.5_Missense_Mutation_p.A1440E|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1824E|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1439E|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1846E|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1846E|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1439E|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1833E|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1436E|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1439E|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1436E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1846	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCAACGCCCGCGCTGCCACA	0.448000										TSP Lung(15;0.13)			28	17					8.58068e-18	1.30968e-17	1	1	0
GART	2618	broad.mit.edu	37	21	34901177	34901177	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:34901177G>T	ENST00000381831.3	-	8	1053	c.790C>A	c.(790-792)Caa>Aaa	p.Q264K	GART_ENST00000381839.3_Missense_Mutation_p.Q264K|GART_ENST00000361093.5_Missense_Mutation_p.Q264K|GART_ENST00000381815.4_Missense_Mutation_p.Q264K	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	264	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTACCCTCTTGCTGCATGCCA	0.383000													20	51					3.8784e-16	5.8085e-16	1	1	0
ADNP2	22850	broad.mit.edu	37	18	77895876	77895876	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:77895876G>T	ENST00000262198.4	+	4	3035	c.2580G>T	c.(2578-2580)agG>agT	p.R860S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	860					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGAAGGTGAGGCCTCAGGCTG	0.577000													15	53					1.3612e-06	1.65104e-06	1	1	0
SUCLA2	8803	broad.mit.edu	37	13	48542854	48542854	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:48542854C>A	ENST00000378654.3	-	6	734	c.678G>T	c.(676-678)atG>atT	p.M226I	SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_Missense_Mutation_p.M92I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.M168I|SUCLA2_ENST00000543413.1_Missense_Mutation_p.M168I	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	226	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GTGGAAATCCCATCTTCTGTG	0.328000													8	37					0.0381472	0.0393181	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918538	51918538	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:51918538G>T	ENST00000353836.5	-	7	1448	c.1227C>A	c.(1225-1227)gtC>gtA	p.V409V	SIGLEC10_ENST00000441969.3_Silent_p.V351V|SIGLEC10_ENST00000439889.2_Silent_p.V351V|SIGLEC10_ENST00000525998.1_Silent_p.V319V|SIGLEC10_ENST00000339313.5_Silent_p.V409V|SIGLEC10_ENST00000436984.2_Silent_p.V361V|SIGLEC10_ENST00000432469.2_Silent_p.V326V|SIGLEC10_ENST00000356298.5_Silent_p.V409V|SIGLEC10_ENST00000442846.3_Silent_p.V261V	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	409	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCAGCTCCAGGACCCCGGGGT	0.667000													57	19					1.27862e-28	2.16957e-28	1	1	0
IGFBP3	3486	broad.mit.edu	37	7	45956236	45956236	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:45956236G>T	ENST00000275521.6	-	3	794	c.661C>A	c.(661-663)Ctg>Atg	p.L221M	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.L227M|IGFBP3_ENST00000381086.5_Missense_Mutation_p.L124M	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	221	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	AGGTGATTCAGTGTGTCTTCC	0.453000													54	182					2.17126e-26	3.62634e-26	1	1	0
LATS2	26524	broad.mit.edu	37	13	21565415	21565415	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:21565415G>A	ENST00000382592.4	-	3	876	c.471C>T	c.(469-471)tcC>tcT	p.S157S	LATS2_ENST00000542899.1_Silent_p.S157S|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	157					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTCACCTGGGGAGGTCTGCT	0.597000													41	34					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140534	50140534	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:50140534G>A	ENST00000371564.3	-	2	465	c.246C>T	c.(244-246)ccC>ccT	p.P82P	NFATC2_ENST00000396009.3_Silent_p.P82P|NFATC2_ENST00000414705.1_Silent_p.P62P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	82					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATCGGCCGGGGGGCTCGCCAG	0.652000													32	49					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23609766	23609766	+	Silent	SNP	G	G	A	rs139271979		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:23609766G>A	ENST00000316902.7	-	5	1427	c.702C>T	c.(700-702)gtC>gtT	p.V234V	SLC7A8_ENST00000453702.1_Silent_p.V31V|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000469263.1_Silent_p.V234V|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Silent_p.V129V	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	234					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAGCCAGTGCGACGAGGCCGA	0.512000													22	167					0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72520897	72520897	+	Missense_Mutation	SNP	A	A	G	rs145668801	byFrequency	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:72520897A>G	ENST00000377197.3	+	6	622	c.535A>G	c.(535-537)Ata>Gta	p.I179V	C9orf135_ENST00000527647.1_Silent_p.P159P|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	179						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TGATTATTCCATAGTCCACAG	0.338000													30	25					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394270	164394270	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:164394270C>G	ENST00000280605.3	-	1	777	c.617G>C	c.(616-618)tGc>tCc	p.C206S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	206						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTTCACAGCAATTCTGGTA	0.512000													14	149					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68797774	68797774	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:68797774T>C	ENST00000508048.1	-	4	289	c.254A>G	c.(253-255)gAt>gGt	p.D85G	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D86G|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.D89G			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	89	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						AAATATCTCATCCACCTGTTA	0.303000													22	25					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308423	7308423	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:7308423C>T	ENST00000297498.2	-	4	457		c.e4-1		SPAG11B_ENST00000528168.1_Splice_Site|SPAG11B_ENST00000398462.2_Splice_Site|SPAG11B_ENST00000359758.5_Splice_Site|SPAG11B_ENST00000458665.1_Splice_Site|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GGAACATCCCCTATGGATACA	0.438000													17	130					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906661	68906661	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:68906661G>A	ENST00000262340.5	-	6	571	c.518C>T	c.(517-519)tCt>tTt	p.S173F		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	173					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCCATTGACAGAGACATAGTT	0.403000													11	40					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995574	19995574	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:19995574G>T	ENST00000391403.2	-	1	2304	c.2201C>A	c.(2200-2202)cCa>cAa	p.P734Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	734	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGCAGGTCTTGGGGGACGGTA	0.488000													13	34					5.50884e-06	6.55716e-06	1	1	0
ABHD16B	140701	broad.mit.edu	37	20	62493319	62493319	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:62493319C>A	ENST00000369916.3	+	1	754	c.426C>A	c.(424-426)cgC>cgA	p.R142R		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	142							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						ACGGCCGGCGCGCCAAGCTGG	0.706000													14	24					1.3612e-06	1.65104e-06	1	1	0
SMYD1	150572	broad.mit.edu	37	2	88408039	88408039	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:88408039C>T	ENST00000419482.2	+	9	1380	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.P419L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CCCTCCCACCCCATCACTAAG	0.567000													24	22					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512525	123512525	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:123512525C>A	ENST00000360772.3	-	5	542	c.165_splice	c.e5+1	p.R55_splice	MYLK_ENST00000346322.5_Splice_Site_p.R55_splice|MYLK_ENST00000475616.1_Splice_Site_p.R55_splice|MYLK_ENST00000360304.3_Splice_Site_p.R55_splice|MYLK_ENST00000359169.1_Splice_Site_p.R55_splice			Q15746	MYLK_HUMAN	myosin light chain kinase	55	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTTCTTACCCGCCCTTCGAA	0.587000													9	37					1.12685e-05	1.33382e-05	1	1	0
TEX13A	56157	broad.mit.edu	37	X	104464010	104464010	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:104464010G>T	ENST00000413579.1	-	5	977	c.866C>A	c.(865-867)tCa>tAa	p.S289*	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.Q290K|TEX13A_ENST00000372575.1_Missense_Mutation_p.Q290K|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	289						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AAGAGGTTCTGATGAGGCTCT	0.517000													17	10					2.48551e-13	3.53963e-13	1	1	0
LRRC43	254050	broad.mit.edu	37	12	122684751	122684751	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:122684751C>T	ENST00000339777.4	+	8	1393	c.1365C>T	c.(1363-1365)agC>agT	p.S455S	LRRC43_ENST00000425921.1_Silent_p.S270S	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	455										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCCTCTTCAGCACTGCCCACA	0.652000													12	67					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962384	2962384	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:2962384C>A	ENST00000396946.4	-	17	2556	c.2153G>T	c.(2152-2154)tGc>tTc	p.C718F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	718	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCCTCGGATGCAGCCTTCTAG	0.607000			Mis		DLBCL								28	78					3.69857e-22	6.00429e-22	1	1	0
TEX37	200523	broad.mit.edu	37	2	88825152	88825152	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:88825152G>T	ENST00000303254.3	+	2	132		c.e2-1			NM_152670.2	NP_689883.1			testis expressed 37																		TCTGTGTCTAGGTCGTTTGCC	0.547000													42	167					2.35958e-20	3.73552e-20	1	1	0
ACVR1	90	broad.mit.edu	37	2	158617506	158617506	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:158617506G>A	ENST00000263640.3	-	9	1579	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	ACVR1_ENST00000434821.1_Missense_Mutation_p.P384S|ACVR1_ENST00000410057.2_Missense_Mutation_p.P384S|ACVR1_ENST00000409283.2_Missense_Mutation_p.P384S	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	384	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGAACTTCGGGGGCCATGTAG	0.507000													25	27					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001407	52001407	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:52001407G>T	ENST00000291707.3	-	5	1325	c.1270C>A	c.(1270-1272)Cag>Aag	p.Q424K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Q306K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	424	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding	p.Q424*(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCGAGGACTGTGAGGGGCTC	0.622000													40	15					1.57019e-19	2.45535e-19	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29639225	29639225	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:29639225G>C	ENST00000318184.5	-	8	948	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	317	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGAACTCAGGGCCTTTGTT	0.438000													5	71					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210329137	210329137	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:210329137A>T	ENST00000537238.1	+	8	1513	c.1122A>T	c.(1120-1122)gaA>gaT	p.E374D	SYT14_ENST00000399639.2_Missense_Mutation_p.E412D|SYT14_ENST00000534859.1_Missense_Mutation_p.E412D|SYT14_ENST00000367015.1_Missense_Mutation_p.E374D|SYT14_ENST00000367019.1_Missense_Mutation_p.E412D|SYT14_ENST00000472886.1_Missense_Mutation_p.E412D|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.E457D	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	412	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGTCTCTTGAACATGGCTCAG	0.393000													33	78					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71227848	71227848	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:71227848T>C	ENST00000226460.4	+	2	112	c.16T>C	c.(16-18)Tgg>Cgg	p.W6R		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	6						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ATCACTGACTTGGATCTTGGG	0.348000													51	81					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327678	28327678	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:28327678G>T	ENST00000377255.3	+	3	612	c.315G>T	c.(313-315)tgG>tgT	p.W105C	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.W105C|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	105	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGCAGAGCTGGGTGCGGGAGC	0.612000													6	51					0.00198382	0.00216355	1	1	0
LIN7C	55327	broad.mit.edu	37	11	27528284	27528284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:27528284C>A	ENST00000278193.2	-	1	36	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	LIN7C_ENST00000524596.1_Nonsense_Mutation_p.E6*	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	6					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						CGCACGGGTTCCCCTAGCGCC	0.657000													5	65					0.217242	0.220351	1	1	0
SRPK1	6732	broad.mit.edu	37	6	35837334	35837334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:35837334G>A	ENST00000373825.2	-	11	1621	c.1336C>T	c.(1336-1338)Caa>Taa	p.Q446*	SRPK1_ENST00000373822.1_Nonsense_Mutation_p.Q339*|SRPK1_ENST00000423325.2_Nonsense_Mutation_p.Q430*			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	446	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ATGCTTTCTTGAAGTTGGCTA	0.453000													11	99					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107526690	107526690	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:107526690A>G	ENST00000265840.7	+	11	995	c.730A>G	c.(730-732)Act>Gct	p.T244A	ELMOD1_ENST00000531234.1_Missense_Mutation_p.T238A|ELMOD1_ENST00000443271.2_Missense_Mutation_p.T236A	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	244	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CATCAATATAACTGACCTGGC	0.388000													5	14					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145697972	145697972	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:145697972G>T	ENST00000301332.2	+	16	2121	c.1744G>T	c.(1744-1746)Ggg>Tgg	p.G582W	KIFC2_ENST00000301331.5_Intron|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	582	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGAAACTGGGGAGGAGCAA	0.726000													7	27					5.18039e-06	6.18931e-06	1	1	0
OR9A2	135924	broad.mit.edu	37	7	142724158	142724158	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:142724158C>T	ENST00000350513.2	-	1	124	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GTGGTGTAGTCCTTGGGACCC	0.413000													12	89					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30942363	30942363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:30942363C>A	ENST00000597505.1	-	23	3252	c.3253G>T	c.(3253-3255)Gaa>Taa	p.E1085*	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E164*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					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)					AGAGGATCTTCTTGCATTTGC	0.408000													16	13					9.7654e-05	0.000111655	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9063162	9063162	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:9063162C>A	ENST00000382496.5	-	18	3020	c.2355G>T	c.(2353-2355)ggG>ggT	p.G785G		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	785	TSP type-1 5.				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						CTGACCAAGCCCCGTTGACCG	0.562000													19	76					3.51602e-12	4.88719e-12	1	1	0
ALG2	85365	broad.mit.edu	37	9	101980818	101980818	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:101980818C>G	ENST00000476832.1	-	2	710	c.649G>C	c.(649-651)Gat>Cat	p.D217H	ALG2_ENST00000319033.6_Missense_Mutation_p.D124H	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	217					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ACTAGGTCATCCAGCTTTTCA	0.443000													4	65					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50097609	50097609	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:50097609G>C	ENST00000046087.2	-	4	532	c.463C>G	c.(463-465)Ctt>Gtt	p.L155V	ZPBP_ENST00000419417.1_Missense_Mutation_p.L154V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	155					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTTAGTTGAAGACGTTTAACA	0.299000													18	78					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53820925	53820925	+	Silent	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:53820925A>G	ENST00000288139.3	+	41	5047	c.4929A>G	c.(4927-4929)aaA>aaG	p.K1643K	CACNA1D_ENST00000540742.1_Silent_p.K515K|CACNA1D_ENST00000350061.5_Silent_p.K1623K|CACNA1D_ENST00000422281.2_Silent_p.K1608K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1623					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGAAACGGAAAGAACAAGGAC	0.428000													7	36					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463176	62463176	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:62463176C>A	ENST00000430451.2	+	1	636	c.439C>A	c.(439-441)Ctt>Att	p.L147I	SYT16_ENST00000446982.2_Missense_Mutation_p.L147I	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	147										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGAGCATCACCTTGAAAAGCA	0.468000													14	115					1.49906e-05	1.76133e-05	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46976327	46976327	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:46976327G>T	ENST00000264318.3	-	6	1625	c.643C>A	c.(643-645)Ccg>Acg	p.P215T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GACTCCTTCGGAACTTCAACT	0.393000													6	90					0.217242	0.220351	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762759	53762759	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:53762759C>A	ENST00000341702.3	+	1	1215	c.1131C>A	c.(1129-1131)ctC>ctA	p.L377L	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	377					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GATCCAGGCTCTGCAGTATCT	0.463000													6	124					0.00198382	0.00216355	1	1	0
CD53	963	broad.mit.edu	37	1	111434074	111434074	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:111434074T>A	ENST00000271324.5	+	2	156	c.44T>A	c.(43-45)tTc>tAc	p.F15Y	CD53_ENST00000429072.2_Missense_Mutation_p.F15Y	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	15					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		GTCCTGTTTTTCTTCAACTTG	0.443000													23	48					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94820550	94820550	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:94820550C>T	ENST00000358746.2	-	38	4230		c.e38-1			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37								binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCGTCTTTAACTGTAAACAAA	0.348000													3	37					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325220	6325220	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:6325220G>T	ENST00000335585.5	-	9	1176	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R	PPP2R2C_ENST00000382599.4_Silent_p.R385R|PPP2R2C_ENST00000506140.1_Silent_p.R378R|PPP2R2C_ENST00000507294.1_Silent_p.R378R|PPP2R2C_ENST00000515571.1_Silent_p.R368R	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	385					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGCACAGCCCGGGGCTTGCTG	0.617000													11	31					0.000151284	0.000172356	1	1	0
VWF	7450	broad.mit.edu	37	12	6143899	6143899	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:6143899C>A	ENST00000261405.5	-	20	2894	c.2640G>T	c.(2638-2640)ggG>ggT	p.G880G		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	880	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTATTTGAGCCCGTCGAAGG	0.592000													23	60					1.22574e-08	1.57665e-08	1	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68704180	68704180	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:68704180G>T	ENST00000255078.3	+	13	2343	c.2232G>T	c.(2230-2232)ttG>ttT	p.L744F		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	744	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGATGCAGTTGGAGTTTCCTC	0.602000													9	61					0.000274275	0.000309165	1	1	0
SIM1	6492	broad.mit.edu	37	6	100838747	100838747	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:100838747C>A	ENST00000369208.3	-	12	2573	c.1791G>T	c.(1789-1791)ggG>ggT	p.G597G	SIM1_ENST00000262901.4_Silent_p.G597G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	597	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTTCCCAGCCCCATTAATGG	0.468000													4	60					0.00909568	0.00949762	1	1	0
ULK4	54986	broad.mit.edu	37	3	41977433	41977433	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:41977433C>T	ENST00000301831.4	-	4	701		c.e4-1		ULK4_ENST00000420927.1_Splice_Site	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4								ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGGAACCACCTGCAAGAGGT	0.408000													11	54					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180261	57180261	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:57180261G>C	ENST00000504228.1	+	6	698	c.593G>C	c.(592-594)gGa>gCa	p.G198A	KIAA1211_ENST00000541073.1_Missense_Mutation_p.G191A|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G198A			Q6ZU35	K1211_HUMAN	KIAA1211	198										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GACCAGAACGGACACCCAGGC	0.542000													6	25					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141533750	141533750	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:141533750C>A	ENST00000389484.3	-	33	6388	c.5417G>T	c.(5416-5418)aGa>aTa	p.R1806I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1806					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTCCGTCTCTTTTGCTGCA	0.388000										TSP Lung(27;0.18)			22	39					6.44725e-10	8.58736e-10	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97522375	97522375	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:97522375A>C	ENST00000375315.2	+	1	310	c.310A>C	c.(310-312)Aaa>Caa	p.K104Q	C9orf3_ENST00000297979.5_Missense_Mutation_p.K104Q|C9orf3_ENST00000277198.2_Missense_Mutation_p.K104Q	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	104					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AATCTGTAGTAAAGGTGAAAA	0.413000													90	164					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429113	10429113	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:10429113G>A	ENST00000245503.5	-	31	4652	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1423M|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	1423					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1423K(1)		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						CCGCTGCTTCGTCTTTTCGAG	0.512000													15	54					0	0	1	0	0
GPR180	160897	broad.mit.edu	37	13	95264515	95264515	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:95264515T>C	ENST00000376958.4	+	3	401	c.376T>C	c.(376-378)Tat>Cat	p.Y126H		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	126						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GCATGTGTTTTATGCAGACAA	0.423000													11	80					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57327752	57327752	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:57327752G>T	ENST00000293502.1	-	1	437	c.294C>A	c.(292-294)ggC>ggA	p.G98G		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	98						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CACCTTGTTCGCCCACTTTGT	0.542000													57	34					4.48484e-38	7.83925e-38	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77619897	77619897	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:77619897C>G	ENST00000521891.2	+	3	3155	c.2707C>G	c.(2707-2709)Cta>Gta	p.L903V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L877V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L877V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L877V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	877						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCTGAAGCTATTCCAGTG	0.537000										HNSCC(33;0.089)			8	25					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48673997	48673997	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:48673997G>T	ENST00000352832.5	+	14	3357	c.2985G>T	c.(2983-2985)aaG>aaT	p.K995N	CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1018N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1018N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K995N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1018N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K995N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K995N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K995N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1018N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K995N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1018N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1018N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K995N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K995N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1018					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACAGGAAGAAGTGCTTGGCCT	0.602000													15	20					9.16793e-09	1.18404e-08	1	1	0
ADCY2	108	broad.mit.edu	37	5	7706920	7706920	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:7706920C>A	ENST00000338316.4	+	8	1262	c.1173C>A	c.(1171-1173)gtC>gtA	p.V391V	ADCY2_ENST00000537121.1_Silent_p.V211V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	391					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGGGAATGTCCTGTGTGGCG	0.498000													55	248					9.72345e-25	1.60714e-24	1	1	0
VAT1L	57687	broad.mit.edu	37	16	77850840	77850840	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:77850840A>C	ENST00000302536.2	+	2	409	c.256A>C	c.(256-258)Atg>Ctg	p.M86L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	86							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CATTGACTTGATGGTGCGACA	0.443000													11	80					0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19446416	19446416	+	Splice_Site	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:19446416G>C	ENST00000340967.2	+	5	667	c.641_splice	c.e5+1	p.W214_splice		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	214					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CACTGCATGTGGTAAGCCCCT	0.597000													55	31					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311268	117311268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:117311268C>T	ENST00000369478.3	+	5	1027	c.919C>T	c.(919-921)Cag>Tag	p.Q307*		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	307	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGTTCAGCACCAGCCTCAGAA	0.612000													6	129					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260188	44260188	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:44260188C>A	ENST00000315087.7	-	7	1608	c.948G>T	c.(946-948)gtG>gtT	p.V316V	ST8SIA5_ENST00000538168.1_Silent_p.V352V|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.V285V	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	316					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAAAGAGGTGCACCTCCTCAC	0.632000													24	53					5.45024e-15	8.03061e-15	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234113075	234113075	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:234113075G>A	ENST00000359570.5	+	28	3243	c.3243G>A	c.(3241-3243)gaG>gaA	p.1081_1081insE	INPP5D_ENST00000450745.1_Missense_Mutation_p.845_845insE|INPP5D_ENST00000455936.2_Missense_Mutation_p.845_845insE			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCTCTGCCGAGGGCAGGGCGG	0.711000													3	15					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814463	128814463	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:128814463G>T	ENST00000270861.5	+	11	2486	c.2212G>T	c.(2212-2214)Gat>Tat	p.D738Y	PLK4_ENST00000507249.1_Missense_Mutation_p.D677Y|PLK4_ENST00000515069.1_Missense_Mutation_p.D660Y|PLK4_ENST00000514379.1_Missense_Mutation_p.D697Y|PLK4_ENST00000513090.1_Missense_Mutation_p.D706Y	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	738					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CAAAACAGAAGATTTCATTCA	0.274000													67	77					8.83742e-36	1.53631e-35	1	1	0
OR10G8	219869	broad.mit.edu	37	11	123900399	123900399	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:123900399C>A	ENST00000431524.1	+	1	103	c.70C>A	c.(70-72)Ccc>Acc	p.P24T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCTGGACGCCCCCCTCTTTGG	0.587000													41	100					3.61848e-18	5.54949e-18	1	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148997777	148997777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:148997777G>T	ENST00000333677.6	+	6	860	c.697G>T	c.(697-699)Gag>Tag	p.E233*		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	233					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GACCCTCCGGGAGCGGCTGGC	0.612000													32	58					3.80469e-20	6.0084e-20	1	1	0
TIE1	7075	broad.mit.edu	37	1	43788393	43788393	+	Nonstop_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:43788393A>G	ENST00000372476.3	+	23	3496	c.3417A>G	c.(3415-3417)tgA>tgG	p.*1139W	TIE1_ENST00000433781.2_Nonstop_Mutation_p.*784W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	0					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGAGGCCTGAGCTGCCATCC	0.572000													4	20					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53621555	53621555	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:53621555C>T	ENST00000342160.3	-	30	3864	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G1136D|HUWE1_ENST00000218328.8_Missense_Mutation_p.G1136D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1136					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGATGTGAAACCAACTGAACA	0.408000													3	19					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23721519	23721519	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:23721519C>G	ENST00000256797.4	-	4	592	c.424G>C	c.(424-426)Ggg>Cgg	p.G142R	ERN2_ENST00000457008.2_Missense_Mutation_p.G94R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	94					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTTTGGGTCCCCAAGATGTAC	0.527000													10	28					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30733960	30733960	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:30733960G>T	ENST00000262518.4	+	23	4168	c.3783G>T	c.(3781-3783)caG>caT	p.Q1261H	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1261	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCTCATCCAGGCCGTGGCCC	0.647000													8	154					0.000157383	0.000178985	1	1	0
MYH7	4625	broad.mit.edu	37	14	23902905	23902905	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:23902905C>T	ENST00000355349.3	-	3	199	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	13	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGTAGGGGGCGGCAGCCCCA	0.587000													24	21					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268734	65268734	+	RNA	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:65268734T>A	ENST00000534336.1	+	0	3502					NR_002819.2																						ATGTTTTCAGTTCTTTTTCCC	0.398000													4	37					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143193	56143193	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:56143193T>G	ENST00000302270.1	+	1	94	c.94T>G	c.(94-96)Tta>Gta	p.L32V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.L32L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGTGCTATTCTTATCCATCTA	0.443000													11	140					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181765911	181765911	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:181765911G>T	ENST00000526775.1	+	45	6295	c.6130G>T	c.(6130-6132)Ggg>Tgg	p.G2044W	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1670W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2106W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2087W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2063W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1995W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2057W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2106					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAAGAGCGAGGGACCCAGGC	0.607000													5	15					0.014758	0.015385	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73480146	73480146	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:73480146G>A	ENST00000523207.1	+	2	765	c.177G>A	c.(175-177)acG>acA	p.T59T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCCCAGGACGCGCCTGGGGA	0.537000													7	101					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849658	26849658	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:26849658G>T	ENST00000376236.4	+	13	1709		c.e13-1			NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein						blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCTCTCCCCAGTATGGGAAGA	0.468000													16	44					2.23348e-06	2.69879e-06	1	1	0
SLC17A9	63910	broad.mit.edu	37	20	61594070	61594070	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:61594070G>T	ENST00000370349.3	+	6	778	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.V198L			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	198					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						CTTGCTTTGGGTGTGGTACGT	0.642000													50	114					2.74695e-27	4.61199e-27	1	1	0
SRGAP3	9901	broad.mit.edu	37	3	9121754	9121754	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:9121754C>A	ENST00000383836.3	-	4	868	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.L147L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	147					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGTGCATCTGCAGGCCAATCT	0.493000			T	RAF1	pilocytic astrocytoma								10	24					9.70103e-10	1.28675e-09	1	1	0
PRAM1	84106	broad.mit.edu	37	19	8564088	8564088	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:8564088G>T	ENST00000423345.4	-	2	1124	c.604C>A	c.(604-606)Ccg>Acg	p.P202T	PRAM1_ENST00000255612.3_Missense_Mutation_p.P202T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	250	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGGGACCTCGGGGTAGCCTCA	0.647000													10	19					0.000978159	0.00108157	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11565071	11565071	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:11565071C>A	ENST00000304623.8	-	3	461	c.272G>T	c.(271-273)aGc>aTc	p.S91I	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S91I|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000511377.1_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	91					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTGCTCATGCTGCCAGTCTC	0.542000													9	79					0.00448238	0.00481441	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94964292	94964292	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:94964292C>T	ENST00000341228.2	-	3	1238	c.443G>A	c.(442-444)cGt>cAt	p.R148H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R148H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	148					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAAAAACTTACGCTGTGGCTG	0.468000													6	127					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2763714	2763714	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:2763714C>G	ENST00000320876.6	+	37	4984	c.4646C>G	c.(4645-4647)aCt>aGt	p.T1549S	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.T1549S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1549					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAGGAAGATACTGATACCCCA	0.353000													4	40					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125141152	125141152	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:125141152C>A	ENST00000362012.2	+	5	456	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	PTGS1_ENST00000373698.5_Missense_Mutation_p.L42M|PTGS1_ENST00000540753.1_Missense_Mutation_p.L126M|PTGS1_ENST00000223423.4_Missense_Mutation_p.L151M	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	151					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CACTCGTATTCTGCCCTCTGT	0.532000													3	24					1	1	1	1	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:7577082C>G	ENST00000420246.2	-	8	988	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	TP53_ENST00000455263.2_Missense_Mutation_p.E286Q|TP53_ENST00000269305.4_Missense_Mutation_p.E286Q|TP53_ENST00000359597.4_Missense_Mutation_p.E286Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E286Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		AGATTCTCTTCCTCTGTGCGC	0.557000		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)			27	10					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288739	114288739	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:114288739G>C	ENST00000357077.4	+	42	11103	c.11050G>C	c.(11050-11052)Gag>Cag	p.E3684Q	ANK2_ENST00000510275.2_Missense_Mutation_p.E251Q|ANK2_ENST00000394537.3_Missense_Mutation_p.E1599Q|ANK2_ENST00000509550.1_Missense_Mutation_p.E775Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E1590Q|ANK2_ENST00000264366.6_Missense_Mutation_p.E3651Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3651					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)		GGTACTTCAAGAGGAGTTATG	0.383000													10	77					0	0	1	0	0
NUCKS1	64710	broad.mit.edu	37	1	205687434	205687434	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:205687434C>G	ENST00000367142.4	-	7	1008	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	236						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGGGCTTCATCTTCAGACCCT	0.423000													23	130					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91519973	91519973	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr15:91519973G>A	ENST00000361188.5	-	9	2347	c.1136C>T	c.(1135-1137)aCa>aTa	p.T379I	PRC1_ENST00000442656.2_Missense_Mutation_p.T338I|PRC1_ENST00000394249.3_Missense_Mutation_p.T379I|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.T379I			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	379	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCCTCGGTTTGTAAATCGATT	0.373000													46	37					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2436377	2436377	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:2436377C>A	ENST00000452833.1	-	9	1467	c.1459G>T	c.(1459-1461)Ggc>Tgc	p.G487C	TRPM5_ENST00000533060.1_Missense_Mutation_p.G485C|TRPM5_ENST00000528453.1_Missense_Mutation_p.G485C|TRPM5_ENST00000155858.6_Missense_Mutation_p.G485C			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	485						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTGGCCGGCCGTCCTGGTAG	0.746000													9	1					1.12685e-05	1.33382e-05	1	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256489	24256489	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:24256489A>C	ENST00000538205.1	+	10	1175	c.628A>C	c.(628-630)Aac>Cac	p.N210H	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N210H|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.N289H	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	289					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACGTTTGACAACTTCCTGAG	0.488000													6	40					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138282972	138282972	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:138282972G>A	ENST00000394817.2	-	10	1359	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000509534.1_Missense_Mutation_p.T414I|SIL1_ENST00000265195.5_Missense_Mutation_p.T407I	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	407					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCCCGGCAGGTGGTCAGGAG	0.677000									Marinesco-Sjgren syndrome				22	16					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61577705	61577705	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:61577705G>T	ENST00000398571.2	-	11	1451	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	459					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTATTACCTGTTCAGTATGA	0.338000													33	49					4.2108e-06	5.0593e-06	1	1	0
C6	729	broad.mit.edu	37	5	41196022	41196022	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:41196022G>T	ENST00000263413.3	-	5	723	c.459C>A	c.(457-459)gcC>gcA	p.A153A	C6_ENST00000337836.5_Silent_p.A153A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	153	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTAACTTTCTGGCAATGCAGC	0.358000													44	133					5.44703e-19	8.45548e-19	1	1	0
ATP13A1	57130	broad.mit.edu	37	19	19766876	19766876	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:19766876G>A	ENST00000357324.6	-	8	1226	c.1200C>T	c.(1198-1200)acC>acT	p.T400T	ATP13A1_ENST00000291503.5_Silent_p.T282T	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	400					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCAGGCCCGTGGTGGCTTTCT	0.637000													10	37					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439455	150439455	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:150439455G>T	ENST00000358647.3	+	3	595	c.228G>T	c.(226-228)agG>agT	p.R76S	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAACGGGAGGAAAGTCCTGG	0.582000													47	60					5.20006e-24	8.52863e-24	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476588	120476588	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:120476588C>A	ENST00000355622.6	+	3	2283	c.2182C>A	c.(2182-2184)Cat>Aat	p.H728N	TLR4_ENST00000394487.4_Missense_Mutation_p.H688N|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	728	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGAAGGTTTCCATAAAAGCCG	0.478000													30	32					1.39806e-14	2.04578e-14	1	1	0
DICER1	23405	broad.mit.edu	37	14	95584083	95584083	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:95584083T>C	ENST00000526495.1	-	11	1676	c.1385A>G	c.(1384-1386)aAg>aGg	p.K462R	DICER1_ENST00000527414.1_Missense_Mutation_p.K462R|DICER1_ENST00000343455.3_Missense_Mutation_p.K462R|DICER1_ENST00000393063.1_Missense_Mutation_p.K462R|DICER1_ENST00000541352.1_Missense_Mutation_p.K462R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	462	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCCAGCTTCCTTTATCAATCT	0.358000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				8	60					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193469	152193469	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:152193469G>T	ENST00000368801.2	-	3	711	c.636C>A	c.(634-636)tcC>tcA	p.S212S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	212					keratinization		calcium ion binding|protein binding	p.S212S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACTGTCCGGAGCCAGAGC	0.567000													84	208					1.91123e-38	3.3499e-38	1	1	0
FTMT	94033	broad.mit.edu	37	5	121187794	121187794	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:121187794C>T	ENST00000321339.1	+	1	145	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	46					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)		GATCGCCCCCCGCCGCCCCCT	0.786000													4	2					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202820	39202820	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:39202820C>T	ENST00000351578.6	-	2	433	c.243G>A	c.(241-243)ccG>ccA	p.P81P	FYB_ENST00000505428.1_Silent_p.P81P|FYB_ENST00000515010.1_Silent_p.P81P|FYB_ENST00000512982.1_Silent_p.P81P|FYB_ENST00000540520.1_Silent_p.P91P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	81					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTTAGAAACGGGGGCTTGG	0.552000													7	107					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888130	25888130	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:25888130C>A	ENST00000376351.3	+	11	3934	c.3575C>A	c.(3574-3576)gCc>gAc	p.A1192D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1192						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTTTACCTGCCTCTTCTGCT	0.448000													27	50					2.41591e-17	3.67864e-17	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160468875	160468875	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:160468875C>A	ENST00000356956.1	+	17	2429	c.2281C>A	c.(2281-2283)Ccg>Acg	p.P761T		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	761					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTATGCCTGCCCGGAGGAGCC	0.577000													26	77					2.48779e-11	3.39148e-11	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35275603	35275603	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr15:35275603C>A	ENST00000356321.4	-	3	377	c.33G>T	c.(31-33)aaG>aaT	p.K11N		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACTGTTGAATCTTTAGCATTT	0.328000													12	13					1.5842e-08	2.02956e-08	1	1	0
ANK2	287	broad.mit.edu	37	4	114290746	114290746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:114290746G>T	ENST00000357077.4	+	43	11448	c.11395G>T	c.(11395-11397)Gag>Tag	p.E3799*	ANK2_ENST00000510275.2_Nonsense_Mutation_p.E366*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.E1714*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.E890*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.E1705*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E3766*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3766					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)		CAAGACACCTGAGGAAGTTAG	0.527000													34	45					3.67414e-24	6.0415e-24	1	1	0
TRAF6	7189	broad.mit.edu	37	11	36511802	36511802	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:36511802G>A	ENST00000526995.1	-	7	1401	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	TRAF6_ENST00000348124.5_Silent_p.P385P	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	385	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GTTTGTACCCGGGTTTGCCAG	0.433000													12	81					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675956	62675956	+	Missense_Mutation	SNP	C	C	A	rs139433745	by1000genomes	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:62675956C>A	ENST00000498273.1	+	4	1805	c.1510C>A	c.(1510-1512)Cgt>Agt	p.R504S		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	504										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAAGCCTCACGTAGACAAAA	0.443000													6	59					0.27861	0.281255	1	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060836	35060836	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:35060836C>A	ENST00000373913.3	+	3	1196	c.716C>A	c.(715-717)cCa>cAa	p.P239Q	DLGAP4_ENST00000339266.5_Missense_Mutation_p.P239Q|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P239Q|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P239Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	239					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGCAGCCAGCCACGCTACTTC	0.627000													20	52					7.45023e-12	1.02441e-11	1	1	0
SACS	26278	broad.mit.edu	37	13	23905531	23905531	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:23905531C>A	ENST00000382298.3	-	10	13072	c.12484G>T	c.(12484-12486)Gct>Tct	p.A4162S	SACS_ENST00000402364.1_Missense_Mutation_p.A3412S|SACS_ENST00000382292.3_Missense_Mutation_p.A4162S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4162					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)		TGAATTTCAGCAGGAATTGGT	0.418000													96	55					7.79919e-48	1.38219e-47	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153220946	153220946	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:153220946C>A	ENST00000310441.7	-	17	3870	c.2904G>T	c.(2902-2904)ggG>ggT	p.G968G	HCFC1_ENST00000369984.4_Silent_p.G968G|HCFC1_ENST00000354233.3_Silent_p.G899G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	968					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)					GGGCCTCCACCCCACTAGGTG	0.632000													10	8					7.48243e-07	9.16274e-07	1	1	0
FAM111A	63901	broad.mit.edu	37	11	58920302	58920302	+	Silent	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:58920302A>T	ENST00000528737.1	+	5	3979	c.1161A>T	c.(1159-1161)atA>atT	p.I387I	FAM111A_ENST00000420244.1_Silent_p.I387I|FAM111A_ENST00000361723.3_Silent_p.I387I|FAM111A_ENST00000531147.1_Silent_p.I387I|FAM111A_ENST00000533703.1_Silent_p.I387I			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	387					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GGCATGTAATAGATAGCATTG	0.423000													30	117					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54694330	54694330	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:54694330G>T	ENST00000254442.3	+	28	4576	c.4365G>T	c.(4363-4365)gcG>gcT	p.A1455A	WDR7_ENST00000589935.1_Silent_p.A32A|WDR7_ENST00000357574.3_Silent_p.A1422A	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617000													9	32					0.00448238	0.00481441	1	1	0
PREX2	80243	broad.mit.edu	37	8	69136813	69136813	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:69136813C>A	ENST00000288368.4	+	39	5004	c.4727C>A	c.(4726-4728)aCa>aAa	p.T1576K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1576					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTCAGAACACAGCGAAGAAT	0.443000													19	27					1.01871e-10	1.38285e-10	1	1	0
C1orf210	149466	broad.mit.edu	37	1	43748474	43748474	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:43748474C>G	ENST00000523677.1	-	3	557	c.324G>C	c.(322-324)agG>agC	p.R108S	C1orf210_ENST00000423420.1_Missense_Mutation_p.R108S	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	108						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAAGTGGTCCCTGCTACCCT	0.572000													33	48					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733039	52733039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:52733039C>A	ENST00000360540.5	-	7	1352	c.946G>T	c.(946-948)Gag>Tag	p.E316*	PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.E240*|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.E316*|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	316						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				tctttttcctcctcttctttg	0.398000													9	28					0.000673444	0.00074723	1	1	0
CUX2	23316	broad.mit.edu	37	12	111742115	111742115	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:111742115T>A	ENST00000261726.6	+	10	1009	c.855T>A	c.(853-855)agT>agA	p.S285R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGGGCCCAGTGGGGTAAGGA	0.612000													3	21					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869781	22869781	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:22869781G>A	ENST00000302097.3	-	2	426	c.174C>T	c.(172-174)gtC>gtT	p.V58V		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGTTTGAAACGACTGGTTTTG	0.443000													28	81					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36273517	36273517	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:36273517G>T	ENST00000007510.4	+	14	1393	c.1249G>T	c.(1249-1251)Ggg>Tgg	p.G417W	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G281W|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G417W			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	417	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTCAGTGCCTGGGGAGGAGGA	0.652000													19	13					8.28177e-16	1.23453e-15	1	1	0
YTHDC1	91746	broad.mit.edu	37	4	69188509	69188509	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:69188509C>A	ENST00000344157.4	-	11	1894	c.1559G>T	c.(1558-1560)cGa>cTa	p.R520L	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R520L|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R502L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	520	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGGACGTCCTCGTGATCGGGG	0.463000													22	28					1.28384e-07	1.60606e-07	1	1	0
ASTN1	460	broad.mit.edu	37	1	176918415	176918415	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:176918415C>G	ENST00000367654.2	-	12	1997	c.1984G>C	c.(1984-1986)Gac>Cac	p.D662H	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D654H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D654H|ASTN1_ENST00000424564.2_Missense_Mutation_p.D654H			O14525	ASTN1_HUMAN	astrotactin 1	662	EGF-like 3.				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						TTGAAGCCGTCGGAACAGTCC	0.577000											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	54					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298902	125298902	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:125298902G>T	ENST00000538699.1	-	2	1086	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q336K	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	336								p.Q336*(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGCTGGCGCTGGCGCGGATCC	0.627000													48	35					1.61863e-15	2.40159e-15	1	1	0
SCAF4	57466	broad.mit.edu	37	21	33064701	33064701	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:33064701G>A	ENST00000286835.7	-	13	1957	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	SCAF4_ENST00000434667.3_Silent_p.A510A|SCAF4_ENST00000399804.1_Silent_p.A525A	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	525	RRM.					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						CCAAGAGACTGGCAACATCCT	0.363000													4	44					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809504	18809504	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:18809504G>T	ENST00000400664.1	+	1	2081	c.2029G>T	c.(2029-2031)Ggc>Tgc	p.G677C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	677						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGTCAACGGCTTTCTCTA	0.692000													16	37					2.31682e-05	2.7072e-05	1	1	0
CHST15	51363	broad.mit.edu	37	10	125805372	125805372	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:125805372G>A	ENST00000346248.5	-	2	999	c.357C>T	c.(355-357)aaC>aaT	p.N119N	CHST15_ENST00000421115.1_Silent_p.N119N|CHST15_ENST00000435907.1_Silent_p.N119N	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	119					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCAAGCTGGGGTTGCTGGGGA	0.448000													8	163					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141458082	141458082	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:141458082C>A	ENST00000389484.3	-	41	7507	c.6536G>T	c.(6535-6537)gGa>gTa	p.G2179V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2179	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAAGTAACTCCATCTTCTGC	0.403000										TSP Lung(27;0.18)			59	73					7.10663e-31	1.21231e-30	1	1	0
PLP1	5354	broad.mit.edu	37	X	103045517	103045517	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:103045517C>T	ENST00000418604.1	+	8	1105	c.825C>T	c.(823-825)acC>acT	p.T275T	PLP1_ENST00000303958.2_Silent_p.T275T|PLP1_ENST00000361621.2_Silent_p.T240T|PLP1_ENST00000466486.1_3'UTR	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	275					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GCCGAGGCACCAAGTTCTGAT	0.488000													50	28					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2692049	2692049	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:2692049C>A	ENST00000399655.1	+	15	2430	c.2165C>A	c.(2164-2166)cCc>cAc	p.P722H	CACNA1C_ENST00000399606.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P722H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P722H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P722H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P747H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P722H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P722H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P722H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	722					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TATGGCGGCCCCTCTTTTCCA	0.527000													6	10					0.00448238	0.00481441	1	1	0
CCDC172	374355	broad.mit.edu	37	10	118101652	118101652	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:118101652G>A	ENST00000333254.3	+	5	638	c.387G>A	c.(385-387)atG>atA	p.M129I	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		AGCTTTTGATGAAAGAAAATG	0.274000													28	63					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18868823	18868823	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:18868823G>C	ENST00000406451.3	+	18	2503	c.2353G>C	c.(2353-2355)Gaa>Caa	p.E785Q	HDAC9_ENST00000432645.2_Missense_Mutation_p.E785Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.E788Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.E744Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	785	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCATCACGCTGAAGAATCCAC	0.522000													78	149					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48617741	48617741	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:48617741C>A	ENST00000328333.8	-	55	5196	c.5089G>T	c.(5089-5091)Ggg>Tgg	p.G1697W	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1697W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1697	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCGGCTCCCCACGGTCACCC	0.632000													4	13					0.00024832	0.000280404	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11397316	11397316	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:11397316C>A	ENST00000304623.8	-	6	629		c.e6-1		CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000359640.2_Splice_Site|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Splice_Site	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGCTGGGCCCTGCATTGAAA	0.478000													20	73					2.94398e-08	3.73412e-08	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42355926	42355926	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:42355926T>C	ENST00000554171.1	+	5	2530	c.98T>C	c.(97-99)cTt>cCt	p.L33P	LRFN5_ENST00000554120.1_Missense_Mutation_p.L33P|LRFN5_ENST00000298119.4_Missense_Mutation_p.L33P			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	33	LRRNT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCTCCTAATCTTGCAACCCTT	0.383000										HNSCC(30;0.082)			23	13					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46292328	46292328	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:46292328C>T	ENST00000359930.4	-	16	2947	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q	SULF2_ENST00000467815.1_Missense_Mutation_p.R699Q|SULF2_ENST00000361612.4_Missense_Mutation_p.R699Q|SULF2_ENST00000484875.1_Missense_Mutation_p.R699Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	699					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						CTTCTGCTCCCGCAACAGCCA	0.597000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	67					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649412	69649412	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:69649412C>T	ENST00000453994.2	+	11	1367	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	GDPD2_ENST00000538649.1_Missense_Mutation_p.P257S|GDPD2_ENST00000536730.1_Missense_Mutation_p.P257S|GDPD2_ENST00000374382.3_Missense_Mutation_p.P336S|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	336	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TCAGACGGTACCAGCATTAGA	0.512000													13	10					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192683	52192683	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:52192683C>A	ENST00000371471.2	-	4	3045	c.2620G>T	c.(2620-2622)Ggc>Tgc	p.G874C	ZNF217_ENST00000302342.3_Missense_Mutation_p.G874C			O75362	ZN217_HUMAN	zinc finger protein 217	874					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTACTGCTGCCGAGGGTGGGC	0.517000													24	88					6.21321e-17	9.41575e-17	1	1	0
SCLY	51540	broad.mit.edu	37	2	238977941	238977941	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:238977941A>T	ENST00000254663.6	+	4	473	c.331A>T	c.(331-333)Aat>Tat	p.N111Y	SCLY_ENST00000409736.2_Missense_Mutation_p.N103Y|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000555827.1_Missense_Mutation_p.N103Y|SCLY_ENST00000373332.3_5'UTR	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	103					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TCTGCAGTCAAATAATTTAGT	0.433000													12	24					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215777545	215777545	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:215777545C>T	ENST00000259154.4	+	13	1504	c.1210C>T	c.(1210-1212)Cca>Tca	p.P404S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	404						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGTACAACACCCAGAGACAGT	0.458000													11	100					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075079	83075079	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:83075079G>A	ENST00000369750.3	+	2	1018	c.401G>A	c.(400-402)cGc>cAc	p.R134H	TPBG_ENST00000543496.1_Missense_Mutation_p.R134H|TPBG_ENST00000535040.1_Missense_Mutation_p.R134H			Q13641	TPBG_HUMAN	trophoblast glycoprotein	134					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GACGAGGTGCGCGCGGGCGCC	0.731000													6	30					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563874	51563874	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:51563874C>G	ENST00000595793.1	-	2	97	c.55G>C	c.(55-57)Gtc>Ctc	p.V19L	KLK13_ENST00000596955.1_Missense_Mutation_p.V19L|KLK13_ENST00000595547.1_Missense_Mutation_p.V19L|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	19					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TCCTGGGAGACACCTGGTAAA	0.562000													38	24					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026035	79026035	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:79026035G>A	ENST00000446378.2	+	2	1478	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	483	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTCAAAGGAGAGAAGGAGGA	0.468000													67	58					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183906918	183906918	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:183906918G>T	ENST00000429586.2	+	10	1205	c.1020G>T	c.(1018-1020)cgG>cgT	p.R340R	ABCF3_ENST00000292808.5_Silent_p.R334R|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	340	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCTGGCCCGGGCCCTCTTTG	0.552000													17	25					9.16793e-09	1.18404e-08	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141032060	141032060	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:141032060C>G	ENST00000389484.3	-	85	14046	c.13075G>C	c.(13075-13077)Gac>Cac	p.D4359H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4359					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACACTTGTCAACCTCACAT	0.413000										TSP Lung(27;0.18)			21	86					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345891	33345891	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:33345891G>A	ENST00000374796.2	-	8	3230	c.660C>T	c.(658-660)ctC>ctT	p.L220L	NCOA6_ENST00000359003.2_Silent_p.L220L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	220	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCCCAGAGAGGAGTGGATCCA	0.433000													8	97					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65084184	65084184	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:65084184T>A	ENST00000380985.5	+	8	1376	c.1198T>A	c.(1198-1200)Ttg>Atg	p.L400M	NLN_ENST00000502464.1_Missense_Mutation_p.L296M	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	400					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CTACCAGGAGTTGTTGGGACT	0.423000													120	87					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3937160	3937160	+	Missense_Mutation	SNP	C	C	A	rs149545036		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:3937160C>A	ENST00000324333.10	-	4	1468	c.1275G>T	c.(1273-1275)agG>agT	p.R425S	GLIS3_ENST00000381971.3_Missense_Mutation_p.R580S|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	425					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)		GATTTTCAAGCCTTGAAAAGG	0.473000													30	28					2.61193e-14	3.80459e-14	1	1	0
ASTN1	460	broad.mit.edu	37	1	176863698	176863698	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:176863698C>A	ENST00000367654.2	-	17	2977	c.2964_splice	c.e17+1	p.R988_splice	ASTN1_ENST00000361833.2_Splice_Site_p.R980_splice|ASTN1_ENST00000367657.3_Splice_Site_p.R980_splice|ASTN1_ENST00000424564.2_Splice_Site_p.R980_splice			O14525	ASTN1_HUMAN	astrotactin 1	988					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						GGCCTCTTACCCTCTGGGTCT	0.567000													6	55					0.00116845	0.00128308	1	1	0
SIDT1	54847	broad.mit.edu	37	3	113323790	113323790	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:113323790G>A	ENST00000264852.4	+	14	2097	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	SIDT1_ENST00000393830.3_Silent_p.L457L|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	457						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTTACGCGCTGCCCGTGATCC	0.483000													8	65					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54254598	54254598	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:54254598A>C	ENST00000259782.4	+	11	1402	c.1306A>C	c.(1306-1308)Aat>Cat	p.N436H		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	436					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATTGCTGCCAATTCCTGGGG	0.378000													13	94					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23876264	23876264	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:23876264C>A	ENST00000405093.3	-	3	239	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	MYH6_ENST00000356287.3_Missense_Mutation_p.G57C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	57	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATGACCTTGCCTCCCTCCCGG	0.567000													37	257					6.97489e-18	1.06714e-17	1	1	0
ACTL9	284382	broad.mit.edu	37	19	8808686	8808686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:8808686C>T	ENST00000324436.3	-	1	486	c.366G>A	c.(364-366)tgG>tgA	p.W122*		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	122						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGGCGGCATCCCAGTCCACGA	0.706000													25	38					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237948065	237948065	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:237948065G>T	ENST00000366574.2	+	90	13370	c.13053G>T	c.(13051-13053)agG>agT	p.R4351S	RYR2_ENST00000542537.1_Missense_Mutation_p.R4335S|RYR2_ENST00000360064.6_Missense_Mutation_p.R4357S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4351					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGAGAGAGGAAACCCCTGG	0.532000													36	43					1.67305e-13	2.39866e-13	1	1	0
REL	5966	broad.mit.edu	37	2	61118822	61118822	+	Silent	SNP	G	G	A	rs139585157		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:61118822G>A	ENST00000295025.7	+	2	335	c.15G>A	c.(13-15)gcG>gcA	p.A5A	REL_ENST00000394479.3_Silent_p.A5A	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	5					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TTTCAGGTGCGTATAACCCGT	0.378000			A		Hodgkin Lymphoma								36	22					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308726	117308726	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:117308726G>A	ENST00000321322.6	-	25	4498	c.4497C>T	c.(4495-4497)tcC>tcT	p.S1499S	DSCAML1_ENST00000527706.1_Silent_p.S1229S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1439	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAGCTTGAAGGAGCGCTCGC	0.592000													8	18					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92011694	92011694	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:92011694G>A	ENST00000450295.1	-	6	1148	c.372C>T	c.(370-372)taC>taT	p.Y124Y	SEMA4D_ENST00000438547.2_Silent_p.Y124Y|SEMA4D_ENST00000339861.4_Silent_p.Y124Y|SEMA4D_ENST00000343780.4_Silent_p.Y124Y|SEMA4D_ENST00000420987.1_Silent_p.Y124Y|SEMA4D_ENST00000356444.2_Silent_p.Y124Y|SEMA4D_ENST00000422704.2_Silent_p.Y124Y|SEMA4D_ENST00000455551.2_Silent_p.Y124Y			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	124	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TCCCACACACGTAAAGGGAAG	0.582000													10	15					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275545	186275545	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:186275545A>T	ENST00000445192.2	+	7	739	c.694A>T	c.(694-696)Aag>Tag	p.K232*	PRG4_ENST00000367485.4_Nonsense_Mutation_p.K139*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.K189*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.K191*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.K191*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	232					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGGTGACTTCAAGGTCACAAC	0.438000													61	177					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167512	140167512	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:140167512G>C	ENST00000504120.2	+	1	1637	c.1637G>C	c.(1636-1638)gGc>gCc	p.G546A	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G546A|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTCTGGGCAGCAACGTG	0.672000													55	52					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108939030	108939030	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:108939030T>A	ENST00000228284.3	-	4	848	c.614A>T	c.(613-615)aAa>aTa	p.K205I	SART3_ENST00000431469.2_Missense_Mutation_p.K205I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	205					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GGAGCGAACTTTCTCAAGGCC	0.463000									Porokeratosis				43	33					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634612	113634612	+	Silent	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:113634612T>A	ENST00000358160.4	+	10	1509	c.1017T>A	c.(1015-1017)gcT>gcA	p.A339A	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Silent_p.A172A|GRAMD1C_ENST00000452134.2_Silent_p.A68A|GRAMD1C_ENST00000440446.2_Silent_p.A134A	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	339						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATATCAGTGCTGACAGAATGT	0.338000													5	38					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585162	158585162	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:158585162C>T	ENST00000368148.3	-	48	6812	c.6632G>A	c.(6631-6633)cGt>cAt	p.R2211H	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2208H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2211					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)					GGTTAGTTGACGCTTCATCGC	0.483000													46	166					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481417	140481417	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:140481417C>A	ENST00000288602.6	-	11	1451	c.1391G>T	c.(1390-1392)gGa>gTa	p.G464V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	464	Protein kinase.		G -> E (in colorectal cancer).|G -> V (in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G464E(6)|p.G464V(6)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGATCCAGATCCAATTCTTTG	0.388000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				134	46					1.05089e-66	1.88333e-66	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55406034	55406034	+	Silent	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:55406034C>G	ENST00000314612.2	+	1	201	c.201C>G	c.(199-201)tcC>tcG	p.S67S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCTCACTCTCCGACCTTTGCT	0.398000													42	25					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2818669	2818669	+	Silent	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:2818669G>C	ENST00000520002.1	-	63	10254	c.9699C>G	c.(9697-9699)ggC>ggG	p.G3233G	CSMD1_ENST00000602723.1_Silent_p.G3056G|CSMD1_ENST00000400186.3_Silent_p.G3056G|CSMD1_ENST00000602557.1_Silent_p.G3233G|CSMD1_ENST00000542608.1_Silent_p.G3055G|CSMD1_ENST00000537824.1_Silent_p.G3232G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3233	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTACCTCATAGCCTCTGGAGC	0.343000													4	17					0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135458235	135458235	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:135458235G>A	ENST00000263610.2	+	1	664	c.51G>A	c.(49-51)gcG>gcA	p.A17A	BARHL1_ENST00000542090.1_Silent_p.A17A	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCCACCGCGCGGGCAGCCCCG	0.662000													30	37					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92509074	92509074	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:92509074G>T	ENST00000371721.3	-	2	1059	c.817C>A	c.(817-819)Cac>Aac	p.H273N	HTR7_ENST00000371719.2_Missense_Mutation_p.H273N|HTR7_ENST00000336152.3_Missense_Mutation_p.H273N|HTR7_ENST00000277874.6_Missense_Mutation_p.H273N			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	273					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGAAACTTGTGTTTGGCAGCA	0.498000													4	51					0.150653	0.153541	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25606432	25606432	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:25606432C>A	ENST00000329474.6	+	35	4146	c.3778C>A	c.(3778-3780)Cag>Aag	p.Q1260K		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1260					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCCCTCCTGCAGTCCCCCAA	0.582000													9	28					0.00448238	0.00481441	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35771843	35771843	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:35771843G>C	ENST00000440995.2	+	27	3919	c.3919G>C	c.(3919-3921)Gac>Cac	p.D1307H	SPEF2_ENST00000356031.3_Missense_Mutation_p.D1312H|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1312					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAACAGGAAGACAAAAAACC	0.398000													20	94					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927608	176927608	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:176927608T>A	ENST00000367654.2	-	10	1646	c.1633A>T	c.(1633-1635)Act>Tct	p.T545S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.T537S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T537S|ASTN1_ENST00000424564.2_Missense_Mutation_p.T537S			O14525	ASTN1_HUMAN	astrotactin 1	545					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						TCCCCAAGAGTGTAGGTGAAT	0.542000													6	25					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61256037	61256037	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr18:61256037C>A	ENST00000344731.5	+	2	238	c.136C>A	c.(136-138)Cga>Aga	p.R46R	SERPINB13_ENST00000269489.5_Silent_p.R46R	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	46					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCTGGGGACCCGAGGAGCCAC	0.532000													4	36					0.00909568	0.00949762	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175028	51175028	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:51175028C>T	ENST00000440970.1	-	2	1245	c.814G>A	c.(814-816)Gcg>Acg	p.A272T	SALL1_ENST00000251020.4_Missense_Mutation_p.A369T|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	369					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATGAGACCGCTGGGTTGCTG	0.512000													34	75					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16711084	16711084	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:16711084C>A	ENST00000513610.1	-	21	2556	c.2102G>T	c.(2101-2103)gGg>gTg	p.G701V	MYO10_ENST00000274203.9_Missense_Mutation_p.G58V|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000515803.1_Missense_Mutation_p.G40V|MYO10_ENST00000505695.1_Missense_Mutation_p.G40V|MYO10_ENST00000427430.2_Missense_Mutation_p.G58V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	701	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGTGCACTTCCCTCGGACGTC	0.557000													6	76					3.59834e-05	4.15895e-05	1	1	0
DISP1	84976	broad.mit.edu	37	1	223177007	223177007	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:223177007G>A	ENST00000284476.6	+	8	2432	c.2268G>A	c.(2266-2268)cgG>cgA	p.R756R		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	756					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGGTGTTCCGGTCGTCCCATC	0.458000													41	111					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798754	55798754	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:55798754C>A	ENST00000313555.1	+	1	860	c.860C>A	c.(859-861)cCa>cAa	p.P287Q		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287L(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATGTTTAATCCAATAATTTAT	0.343000													31	33					6.07407e-21	9.67768e-21	1	1	0
WDR3	10885	broad.mit.edu	37	1	118479440	118479440	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:118479440C>T	ENST00000349139.4	+	4	477	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	144						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGGTCTGTACCGTCTAAAGGG	0.348000													25	74					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842197	32842197	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:32842197C>T	ENST00000341071.7	-	9	884	c.873G>A	c.(871-873)gtG>gtA	p.V291V	BSDC1_ENST00000455895.2_Silent_p.V274V|BSDC1_ENST00000413080.1_Silent_p.V213V|BSDC1_ENST00000449308.1_Silent_p.V274V|BSDC1_ENST00000419121.2_Silent_p.V218V|BSDC1_ENST00000446293.2_Silent_p.V291V|BSDC1_ENST00000526031.1_Silent_p.V179V			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	274							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGATGGAGTCACCTCTGCTG	0.567000													44	124					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204889	1204889	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:1204889G>A	ENST00000308624.5	+	9	821	c.692G>A	c.(691-693)aGg>aAg	p.R231K	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.R104K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	231					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGCATCTCAAGGTACAAAGCC	0.547000													91	42					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20033362	20033362	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:20033362C>A	ENST00000379651.3	-	11	1623	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576H|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	535										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCAGTCTCTCCTGCTCAATCT	0.473000													26	21					3.28513e-13	4.65758e-13	1	1	0
B3GALT2	8707	broad.mit.edu	37	1	193149616	193149616	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:193149616G>T	ENST00000367434.4	-	2	1832	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	359					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAAACTCATTGGGAGGGGGTA	0.413000													36	89					6.53348e-20	1.02669e-19	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44573448	44573448	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:44573448A>T	ENST00000289547.4	-	7	2226	c.2171T>A	c.(2170-2172)cTg>cAg	p.L724Q	NPC1L1_ENST00000381160.3_Missense_Mutation_p.L724Q|NPC1L1_ENST00000423141.1_Intron|NPC1L1_ENST00000546276.1_Missense_Mutation_p.L724Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	724	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTCCGGGGCAGCCTCTGTGT	0.662000													19	18					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32492745	32492745	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:32492745C>A	ENST00000286827.3	-	29	5188	c.4717G>T	c.(4717-4719)Gtc>Ttc	p.V1573F	TIAM1_ENST00000541036.1_Missense_Mutation_p.V1513F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1573					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						ACCCAAATGACTTCCTCGCTT	0.562000													14	38					1.49906e-05	1.76133e-05	1	1	0
NOX3	50508	broad.mit.edu	37	6	155775988	155775988	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:155775988G>T	ENST00000159060.2	-	3	314	c.212C>A	c.(211-213)cCt>cAt	p.P71H		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	71	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)		TCGACTGACAGGTATTAGAAT	0.373000													8	32					5.18039e-06	6.18931e-06	1	1	0
ZNF511	118472	broad.mit.edu	37	10	135165541	135165541	+	Silent	SNP	G	G	A	rs142462504		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:135165541G>A	ENST00000368554.4	+	7	658	c.636G>A	c.(634-636)ccG>ccA	p.P212P	PRAP1_ENST00000433452.2_Silent_p.P53P|PRAP1_ENST00000423766.1_Silent_p.P54P|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000458230.1_Silent_p.P53P			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TGGAGCCTCCGGAGAAGGACG	0.662000													31	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077662	9077662	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:9077662G>T	ENST00000397910.4	-	3	9987	c.9784C>A	c.(9784-9786)Ctg>Atg	p.L3262M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3263	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGTGGGCAGGTGAGAGATG	0.537000													49	83					5.85753e-14	8.47416e-14	1	1	0
ERGIC3	51614	broad.mit.edu	37	20	34144999	34144999	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:34144999A>G	ENST00000348547.2	+	12	1128	c.1051A>G	c.(1051-1053)Atc>Gtc	p.I351V	ERGIC3_ENST00000447986.1_Missense_Mutation_p.I366V|ERGIC3_ENST00000357394.4_Missense_Mutation_p.I356V|ERGIC3_ENST00000279052.6_Missense_Mutation_p.I356V	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	351					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGTGTGCGCCATCATTGGGGG	0.642000													47	86					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110110875	110110875	+	Silent	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:110110875A>T	ENST00000230124.3	+	19	2299	c.2175A>T	c.(2173-2175)gtA>gtT	p.V725V	FIG4_ENST00000441478.2_Silent_p.V448V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	725					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAAAATCAGTATTGGGGTAAG	0.338000													4	47					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78181548	78181548	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:78181548C>A	ENST00000264914.4	-	5	1537	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000565165.1_Missense_Mutation_p.S334I|ARSB_ENST00000396151.3_Missense_Mutation_p.S334I	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	334					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAGCAAGGGGCTTGCCACAAA	0.597000													23	68					3.5997e-14	5.23145e-14	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29623212	29623212	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:29623212C>A	ENST00000278882.3	+	3	404	c.24C>A	c.(22-24)caC>caA	p.H8Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.H8Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.L10I																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TATACATGCACTCGACAATGG	0.398000													17	504					1.67942e-08	2.14293e-08	1	1	0
SFMBT2	57713	broad.mit.edu	37	10	7214087	7214087	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:7214087C>T	ENST00000361972.4	-	19	2275	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D729N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	729					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCGGTGTCATCGTCCATGGCG	0.692000													15	12					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124331855	124331855	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:124331855C>A	ENST00000338354.3	+	5	319	c.213C>A	c.(211-213)acC>acA	p.T71T	DMBT1_ENST00000368955.3_Silent_p.T71T|DMBT1_ENST00000344338.3_Silent_p.T71T|DMBT1_ENST00000359586.6_Silent_p.T71T|DMBT1_ENST00000330163.4_Silent_p.T71T|DMBT1_ENST00000368956.2_Silent_p.T71T|DMBT1_ENST00000368909.3_Silent_p.T71T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	71					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGAGTCAACCCTGGAGTCAA	0.522000													42	85					2.13384e-23	3.49074e-23	1	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065400	55065400	+	RNA	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:55065400A>T	ENST00000526016.1	-	0	308					NR_038174.2																						TGAGAGTTGGAATACAGCAAA	0.488000													11	39					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71540488	71540488	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:71540488G>T	ENST00000304743.2	+	27	5525	c.5079G>T	c.(5077-5079)cgG>cgT	p.R1693R	PCNX_ENST00000439984.3_Silent_p.R1582R|PCNX_ENST00000238570.5_Silent_p.R1621R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1693						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTGATCTTCGGAAAGTACTCA	0.383000													40	54					1.22674e-20	1.94692e-20	1	1	0
SI	6476	broad.mit.edu	37	3	164748595	164748595	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:164748595G>T	ENST00000264382.3	-	25	2859	c.2797C>A	c.(2797-2799)Caa>Aaa	p.Q933K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	933	Isomaltase.|P-type 2.				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)	GAGAAAATTTGATTCCATTGA	0.313000										HNSCC(35;0.089)			18	41					2.35188e-11	3.21306e-11	1	1	0
HECW2	57520	broad.mit.edu	37	2	197143336	197143336	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:197143336C>A	ENST00000260983.2	-	15	3233	c.3051G>T	c.(3049-3051)cgG>cgT	p.R1017R	HECW2_ENST00000409111.1_Silent_p.R661R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1017	Interaction with TP73.|WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAAGTGGGAGCCGGGGATCAA	0.527000													15	48					1.3612e-06	1.65104e-06	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135692770	135692770	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:135692770G>C	ENST00000513104.1	-	2	588	c.306C>G	c.(304-306)aaC>aaG	p.N102K	TRPC7_ENST00000355180.3_Missense_Mutation_p.N102K|TRPC7_ENST00000426057.2_Missense_Mutation_p.N102K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	102					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCGTGCCAGGTTCTCCTTCT	0.632000													36	24					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321181	2321181	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:2321181A>C	ENST00000381458.5	+	13	2099	c.2036A>C	c.(2035-2037)aAg>aCg	p.K679T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	679					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCCTGCAACAAGTTCCCTGCA	0.602000													9	59					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308365	7308365	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:7308365C>G	ENST00000398462.2	-	3	422	c.272G>C	c.(271-273)aGa>aCa	p.R91T	SPAG11B_ENST00000297498.2_3'UTR|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000359758.5_Missense_Mutation_p.R91T|SPAG11B_ENST00000458665.1_Missense_Mutation_p.R38T|SPAG11B_ENST00000361111.2_Intron	NM_058201.2	NP_478108.2	Q08648	SG11B_HUMAN	sperm associated antigen 11B	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GAAAAAAAGTCTGCAGATCCC	0.408000													14	144					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219499220	219499220	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:219499220T>C	ENST00000450993.2	+	13	2102	c.1763T>C	c.(1762-1764)aTc>aCc	p.I588T	PLCD4_ENST00000417849.1_Missense_Mutation_p.I588T|PLCD4_ENST00000432688.1_Missense_Mutation_p.I620T	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	588	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAATGGACATCTGTGATGGG	0.537000													17	84					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433137	4433137	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:4433137G>T	ENST00000301280.5	+	13	2375	c.2274G>T	c.(2272-2274)caG>caT	p.Q758H	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	758	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGTTCCAGGAGCACTGCC	0.682000								Chromatin Structure					4	34					0.00909568	0.00949762	1	1	0
TBATA	219793	broad.mit.edu	37	10	72534009	72534009	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:72534009C>A	ENST00000299290.1	-	9	1266	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L	TBATA_ENST00000456372.2_3'UTR	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GGTTCATGCACTTCTGGAAGC	0.617000													4	4					0.00909568	0.00949762	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36091356	36091356	+	Silent	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:36091356T>C	ENST00000378660.1	+	4	479	c.291T>C	c.(289-291)tcT>tcC	p.S97S	CHDC2_ENST00000313548.4_Silent_p.S97S					calponin homology domain containing 2																		AATTCCTTTCTCTTGAGGAAG	0.428000													4	57					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7737696	7737696	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:7737696C>G	ENST00000303635.7	+	11	3024	c.2817C>G	c.(2815-2817)ttC>ttG	p.F939L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.F939L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	939	IPT/TIG.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAGTTGCCTTCAACAACCAGA	0.557000			T	WWTR1	epitheliod hemangioendothelioma								40	105					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144464692	144464692	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:144464692G>T	ENST00000289013.6	+	15	1985	c.1884G>T	c.(1882-1884)tgG>tgT	p.W628C		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	653					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CATCCACGTGGGCCAGTCCCC	0.706000													10	6					7.03913e-09	9.14656e-09	1	1	0
PWWP2B	170394	broad.mit.edu	37	10	134218991	134218991	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:134218991G>A	ENST00000305233.5	+	2	1046	c.987G>A	c.(985-987)ccG>ccA	p.P329P	PWWP2B_ENST00000368609.4_Silent_p.P329P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	329										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGGACCTGCCGCCCCCTAAGA	0.716000													8	36					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70610163	70610163	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:70610163C>G	ENST00000322773.4	+	4	301	c.199C>G	c.(199-201)Cgt>Ggt	p.R67G		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	67	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTCTCTAAGACGTGCATTTTG	0.269000													5	10					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10112289	10112289	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:10112289T>A	ENST00000264828.3	-	8	1106	c.1021A>T	c.(1021-1023)Agg>Tgg	p.R341W		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	341	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCATCCTCCCTGGCTGCCTTG	0.532000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	39					0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79177451	79177451	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr13:79177451A>T	ENST00000377208.5	-	1	222	c.11T>A	c.(10-12)aTg>aAg	p.M4K	RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	4					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CTTGCTGTTCATGGACATCAT	0.627000													30	29					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24750759	24750759	+	Translation_Start_Site	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:24750759A>T	ENST00000533227.1	+	0	136				LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.K36M	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGTCTTTAAGGAGCGAAGC	0.438000													38	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596215	179596215	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:179596215T>A	ENST00000589042.1	-	59	17502	c.17278A>T	c.(17278-17280)Acg>Tcg	p.T5760S	TTN_ENST00000591111.1_Missense_Mutation_p.T5443S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T4516S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5443	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTCACCGTAATTGGCAAG	0.488000													11	103					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920787	155920787	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:155920787G>A	ENST00000368316.1	-	24	2922	c.2452C>T	c.(2452-2454)Cgg>Tgg	p.R818W	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R847W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R818W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R846W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R845W			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	846					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCAGTGCCCGGGCCTGCTCA	0.726000													19	18					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60150734	60150734	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:60150734G>T	ENST00000358246.1	+	2	313	c.120G>T	c.(118-120)ggG>ggT	p.G40G	MS4A7_ENST00000530234.2_Silent_p.G40G|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Silent_p.G40G|MS4A7_ENST00000534016.1_Silent_p.G40G	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	40						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TGCAGAACGGGCTGCCAACAG	0.443000													31	38					1.75199e-13	2.5006e-13	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57138387	57138387	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:57138387C>A	ENST00000296318.7	-	8	884	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	IL17RD_ENST00000463523.1_Missense_Mutation_p.G122W|IL17RD_ENST00000427856.2_Missense_Mutation_p.G242W|IL17RD_ENST00000320057.5_Missense_Mutation_p.G122W	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	266						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ATATAATCCCCTGGAGAAACA	0.383000													3	10					1	1	1	1	0
DACT1	51339	broad.mit.edu	37	14	59113725	59113725	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:59113725C>T	ENST00000395153.3	+	4	2420	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M	DACT1_ENST00000335867.4_Missense_Mutation_p.T795M|DACT1_ENST00000395151.3_Missense_Mutation_p.T514M|DACT1_ENST00000541264.2_Missense_Mutation_p.T514M|DACT1_ENST00000556859.1_Missense_Mutation_p.T514M	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	795					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCATTCAAACGGTAACGGCC	0.537000													9	88					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401130	50401130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:50401130C>A	ENST00000217086.4	-	4	2947	c.2836G>T	c.(2836-2838)Gga>Tga	p.G946*	SALL4_ENST00000371539.3_Nonsense_Mutation_p.G169*|SALL4_ENST00000395997.3_Nonsense_Mutation_p.G509*	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	946					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTCTTTTTCCGTCCGTACCT	0.527000													27	74					3.65163e-15	5.40543e-15	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38770230	38770230	+	Missense_Mutation	SNP	T	T	A	rs148748248		TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:38770230T>A	ENST00000449082.2	-	15	2442	c.2443A>T	c.(2443-2445)Aac>Tac	p.N815Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	815					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTCGGTTGTTACGGTAGTTT	0.527000													9	49					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872637	136872637	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:136872637G>T	ENST00000409817.1	-	1	1176	c.873C>A	c.(871-873)acC>acA	p.T291T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Silent_p.T287T	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	287					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTAGGGCCTCGGTGATGGAAA	0.488000													16	60					1.5739e-10	2.11845e-10	1	1	0
CASS4	57091	broad.mit.edu	37	20	55033539	55033539	+	Silent	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:55033539C>T	ENST00000371336.3	+	6	2298	c.2097C>T	c.(2095-2097)ccC>ccT	p.P699P	CASS4_ENST00000434344.1_Silent_p.P262P|CASS4_ENST00000360314.3_Silent_p.P699P	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	699					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAGCCAGCCCGCGGAGATCA	0.592000													10	71					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102743720	102743720	+	RNA	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:102743720C>A	ENST00000532855.1	-	0	321							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTGCCCGGTCACTTTCAGAC	0.468000													4	10					0.150653	0.153541	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4207939	4207939	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:4207939C>T	ENST00000600132.1	+	10	1082	c.806C>T	c.(805-807)gCg>gTg	p.A269V	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A269V|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A359V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	269										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTGCAAGAGGCGGCCCAGCGC	0.642000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063289	194063289	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:194063289G>T	ENST00000323830.3	-	2	232	c.143C>A	c.(142-144)cCg>cAg	p.P48Q	CPN2_ENST00000429275.1_Missense_Mutation_p.P48Q	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	48	LRRNT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CGTATATGGCGGGATGTCCAG	0.552000													29	70					1.16021e-09	1.53253e-09	1	1	0
C8orf74	203076	broad.mit.edu	37	8	10555405	10555405	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:10555405G>T	ENST00000304519.5	+	3	567	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	180										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACAGAAGCGCGCCGACGTGCT	0.706000													37	34					4.65686e-17	7.074e-17	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134090506	134090506	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:134090506C>G	ENST00000534548.2	-	2	243	c.179G>C	c.(178-180)aGc>aCc	p.S60T		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	60					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGGTAAAAGGCTTTCATAGAG	0.403000													29	79					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6418059	6418059	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:6418059C>A	ENST00000398148.3	-	10	1003	c.911G>T	c.(910-912)cGg>cTg	p.R304L		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	304	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTCACGTTCCCGGAGGATGTC	0.642000											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	26					3.45872e-05	4.01942e-05	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155161792	155161792	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:155161792A>T	ENST00000357232.3	-	23	5890	c.5891T>A	c.(5890-5892)cTc>cAc	p.L1964H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1964	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATTTGGATGAGCAGCTCATA	0.413000													38	97					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42841873	42841873	+	Silent	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr8:42841873A>T	ENST00000307602.4	+	15	1667	c.1467A>T	c.(1465-1467)atA>atT	p.I489I		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	489					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGAAAAAATAGCCTTATTGC	0.373000			T	RET	papillary thyroid								16	68					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047189	75047189	+	Silent	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr15:75047189C>A	ENST00000343932.4	+	7	1374	c.1311C>A	c.(1309-1311)ggC>ggA	p.G437G		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	437					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCGCCGATGGCACTGCCATTA	0.592000													31	57					6.05902e-23	9.86136e-23	1	1	0
BRINP1	1620	broad.mit.edu	37	9	122004402	122004402	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:122004402C>A	ENST00000265922.3	-	4	963	c.502G>T	c.(502-504)Gca>Tca	p.A168S	DBC1_ENST00000373964.2_Missense_Mutation_p.A168S	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		168	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAGGATGATGCGAGCTGGTGC	0.512000													39	42					1.47244e-24	2.42744e-24	1	1	0
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	by1000genomes	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:71252855C>T	ENST00000395275.2	-	7	1079	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CALN1_ENST00000431984.1_Missense_Mutation_p.V189I|CALN1_ENST00000405452.2_Missense_Mutation_p.V189I|CALN1_ENST00000395276.2_Missense_Mutation_p.V189I|CALN1_ENST00000412588.1_Missense_Mutation_p.V231I|CALN1_ENST00000329008.5_Missense_Mutation_p.V189I	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	189						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537000													9	60					0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446580	43446580	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:43446580G>C	ENST00000500337.2	-	5	723	c.392C>G	c.(391-393)aCt>aGt	p.T131S	C5orf28_ENST00000397080.3_Missense_Mutation_p.T131S|C5orf28_ENST00000512085.1_Missense_Mutation_p.T131S|C5orf28_ENST00000510130.1_Missense_Mutation_p.T29S|C5orf28_ENST00000537319.1_5'UTR|C5orf28_ENST00000511525.1_5'UTR			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	131						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAGGTGCATAGTAAATTTCAG	0.453000													22	174					0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971130	31971130	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:31971130C>G	ENST00000334897.3	-	1	89	c.64G>C	c.(64-66)Ggc>Cgc	p.G22R		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	22						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCTAGGCCTTCGTATCCA	0.567000													19	75					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101784	135101784	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:135101784T>A	ENST00000368563.2	-	11	1927	c.1571A>T	c.(1570-1572)cAg>cTg	p.Q524L	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Q552L|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.Q524L|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Q117L|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Q394L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	524					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GAAGTCGCCCTGGTCCATGAG	0.677000													14	51					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590802	83590802	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:83590802C>A	ENST00000265362.3	-	17	2515	c.2201G>T	c.(2200-2202)cGg>cTg	p.R734L	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R734L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	734	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGCCTTTGCCGACGTTGTTT	0.463000													82	87					4.20717e-43	7.41485e-43	1	1	0
ANK2	287	broad.mit.edu	37	4	114275990	114275990	+	Silent	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:114275990C>G	ENST00000357077.4	+	38	6269	c.6216C>G	c.(6214-6216)tcC>tcG	p.S2072S	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.S2039S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2039					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)		GTGTTTCCTCCATAGGAGTTA	0.468000													16	92					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566484	127566484	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:127566484C>A	ENST00000373580.3	+	6	1031	c.1031C>A	c.(1030-1032)tCc>tAc	p.S344Y	OLFML2A_ENST00000288815.5_Missense_Mutation_p.S130Y	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	344										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGCCCAGGTCCTCCGAGCGA	0.672000													15	11					0.0285812	0.029602	1	1	0
CXCR4	7852	broad.mit.edu	37	2	136872638	136872638	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:136872638G>T	ENST00000409817.1	-	1	1175	c.872C>A	c.(871-873)aCc>aAc	p.T291N	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.T287N	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	287					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TAGGGCCTCGGTGATGGAAAT	0.493000													16	57					1.5739e-10	2.11845e-10	1	1	0
FBXO7	25793	broad.mit.edu	37	22	32894433	32894433	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:32894433G>T	ENST00000266087.7	+	9	1812	c.1485G>T	c.(1483-1485)ttG>ttT	p.L495F	FBXO7_ENST00000382058.3_Missense_Mutation_p.L416F|FBXO7_ENST00000397426.1_Missense_Mutation_p.L381F	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	495					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCCATCTTGCCAGGGCGAG	0.557000													15	56					1.02788e-11	1.40727e-11	1	1	0
SLC9A2	6549	broad.mit.edu	37	2	103281616	103281616	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:103281616G>T	ENST00000233969.2	+	3	953	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	271						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GACCATTGATGTGTTTGCAGG	0.443000													97	109					1.37074e-43	2.42253e-43	1	1	0
GPR158	57512	broad.mit.edu	37	10	25877959	25877959	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:25877959G>C	ENST00000376351.3	+	8	2136	c.1777G>C	c.(1777-1779)Ggt>Cgt	p.G593R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	593						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTCTTGTGGGGTGTTTATCT	0.393000													23	35					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1080302	1080302	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:1080302G>T	ENST00000441003.2	+	8	1049	c.1022G>T	c.(1021-1023)gGg>gTg	p.G341V	MUC2_ENST00000359061.5_Missense_Mutation_p.G341V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	341	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACGACATCGGGGACAGTGGC	0.637000													4	1					0.150653	0.153541	1	1	0
SENP1	29843	broad.mit.edu	37	12	48483056	48483056	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:48483056C>G	ENST00000339976.6	-	5	719	c.337G>C	c.(337-339)Gca>Cca	p.A113P	SENP1_ENST00000448372.1_Intron|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000004980.5_Intron|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Intron			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	0	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTATATCTTGCAAGCACTCCC	0.478000													35	39					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122180126	122180126	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:122180126C>A	ENST00000344337.6	-	5	553	c.377G>T	c.(376-378)gGa>gTa	p.G126V		NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	126					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GGCCACTACTCCTGGTGTGCT	0.353000													6	49					0.248553	0.251709	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165182954	165182954	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:165182954G>T	ENST00000342310.3	-	5	975	c.593C>A	c.(592-594)cCg>cAg	p.P198Q	LMX1A_ENST00000294816.2_Missense_Mutation_p.P198Q|LMX1A_ENST00000367893.4_Missense_Mutation_p.P198Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GATGGTTCTCGGACGTTTGGG	0.517000													40	171					9.73076e-26	1.62095e-25	1	1	0
MYEOV2	150678	broad.mit.edu	37	2	241066156	241066156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:241066156C>A	ENST00000307266.3	-	5	582	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		AGATAACTTCCCAGCCACTTG	0.473000													81	100					4.8811e-34	8.4166e-34	1	1	0
WDSUB1	151525	broad.mit.edu	37	2	160139338	160139338	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:160139338C>A	ENST00000409990.3	-	2	499	c.243G>T	c.(241-243)tgG>tgT	p.W81C	WDSUB1_ENST00000358147.4_Missense_Mutation_p.W81C|WDSUB1_ENST00000409124.1_Missense_Mutation_p.W81C|WDSUB1_ENST00000392796.3_Missense_Mutation_p.W81C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.W81C	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	81						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTTCAGTATTCCATAGGACAG	0.493000													22	70					7.41877e-09	9.62028e-09	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201182428	201182428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:201182428G>T	ENST00000335211.4	+	12	8537	c.8407G>T	c.(8407-8409)Gaa>Taa	p.E2803*	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCAGGGAGTGGAAGAGGCTGG	0.632000													4	7					0.00909568	0.00949762	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67314995	67314995	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:67314995C>T	ENST00000360461.5	+	4	3256	c.719_splice	c.e4-1	p.P241_splice	PLEKHG4_ENST00000450733.1_Splice_Site_p.P160_splice|PLEKHG4_ENST00000427155.2_Splice_Site_p.P241_splice|PLEKHG4_ENST00000379344.3_Splice_Site_p.P241_splice	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	241					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCCCTTTAGGCCCGAAGTACA	0.557000													47	38					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787245	100787245	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:100787245T>A	ENST00000323346.5	+	4	885	c.572T>A	c.(571-573)cTg>cAg	p.L191Q	SLC17A8_ENST00000392989.3_Missense_Mutation_p.L191Q	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	191					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GTCAGAATTCTGCAAGGTTTA	0.438000													28	23					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748173	143748173	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:143748173A>T	ENST00000408906.2	+	1	713	c.679A>T	c.(679-681)Agg>Tgg	p.R227W		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	227				R -> G (in Ref. 3; AAC39630 and 4; AAK95080).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GGCCATCTTGAGGATCCAGTC	0.592000													107	84					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153933029	153933029	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:153933029T>C	ENST00000368623.3	-	3	1279	c.520A>G	c.(520-522)Acc>Gcc	p.T174A	SLC39A1_ENST00000537590.1_Missense_Mutation_p.T72A|SLC39A1_ENST00000356205.4_Missense_Mutation_p.T174A|SLC39A1_ENST00000368621.1_Missense_Mutation_p.T174A|SLC39A1_ENST00000310483.6_Missense_Mutation_p.T174A			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	174						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GCTGAGGGGGTTGCTGGGGCT	0.662000													36	42					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947801	237947801	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:237947801C>A	ENST00000366574.2	+	90	13106	c.12789C>A	c.(12787-12789)agC>agA	p.S4263R	RYR2_ENST00000542537.1_Missense_Mutation_p.S4247R|RYR2_ENST00000360064.6_Missense_Mutation_p.S4269R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4263					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCTGAAGAGCCTGAAGAAGC	0.478000													4	28					0.00909568	0.00949762	1	1	0
DBNL	28988	broad.mit.edu	37	7	44097821	44097821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:44097821G>T	ENST00000494774.1	+	7	667	c.646G>T	c.(646-648)Gag>Tag	p.E216*	DBNL_ENST00000456905.1_Nonsense_Mutation_p.E167*|DBNL_ENST00000452943.1_Nonsense_Mutation_p.E191*|DBNL_ENST00000448521.1_Nonsense_Mutation_p.E216*|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Nonsense_Mutation_p.E121*|DBNL_ENST00000468694.1_Nonsense_Mutation_p.E216*|DBNL_ENST00000440166.1_Nonsense_Mutation_p.E113*	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	216					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TGAGCTGCGTGAGGCTGCACG	0.711000													6	8					0.00116845	0.00128308	1	1	0
INSIG2	51141	broad.mit.edu	37	2	118854203	118854203	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:118854203A>G	ENST00000245787.4	+	2	277	c.71A>G	c.(70-72)cAg>cGg	p.Q24R	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	24					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTCACTAGCCAGAGTGTGAAC	0.403000													15	101					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142789	3142789	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:3142789G>T	ENST00000538082.2	-	2	322	c.7C>A	c.(7-9)Cca>Aca	p.P3T	ZSCAN10_ENST00000252463.2_5'UTR|ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_5'UTR			Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	0	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTGATACTGGAAGCATCTGA	0.657000													5	1					1.23904e-05	1.4639e-05	1	1	0
LY86	9450	broad.mit.edu	37	6	6654820	6654820	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:6654820C>G	ENST00000379953.2	+	6	801	c.449C>G	c.(448-450)tCc>tGc	p.S150C	LY86_ENST00000230568.4_Missense_Mutation_p.S150C			O95711	LY86_HUMAN	lymphocyte antigen 86	150					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					GAAAAACGGTCCACCGTGGCC	0.507000													8	33					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278140	89278140	+	RNA	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:89278140G>T	ENST00000390247.2	-	0	291																											TGAGGAGCCTGGGCGCCTGGC	0.582000													56	60					1.63038e-21	2.64005e-21	1	1	0
UNC79	57578	broad.mit.edu	37	14	94083515	94083515	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr14:94083515G>A	ENST00000553484.1	+	29	4309	c.4155G>A	c.(4153-4155)gtG>gtA	p.V1385V	UNC79_ENST00000555664.1_Silent_p.V1363V|UNC79_ENST00000256339.4_Silent_p.V1186V|UNC79_ENST00000393151.2_Silent_p.V1363V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1363						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCCCTTAGTGGTTCAGGTGC	0.433000													22	85					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33457507	33457507	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:33457507G>A	ENST00000265112.3	+	9	1294	c.984_splice	c.e9+1	p.R328_splice	TARS_ENST00000414361.2_Splice_Site_p.R207_splice|TARS_ENST00000455217.2_Splice_Site_p.R361_splice|TARS_ENST00000541634.1_Splice_Site_p.R224_splice|TARS_ENST00000502553.1_Splice_Site_p.R328_splice	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	328					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAAATTGGCAGGGTATGTTCA	0.363000													32	163					0	0	1	0	0
ZNF22	7570	broad.mit.edu	37	10	45499096	45499096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:45499096C>T	ENST00000298299.3	+	2	873	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	94					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				AAGTTTCTTTCAGAGTTCTAA	0.403000													8	50					0	0	1	0	0
STK35	140901	broad.mit.edu	37	20	2097904	2097904	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:2097904G>T	ENST00000381482.3	+	3	1756	c.1485G>T	c.(1483-1485)agG>agT	p.R495S	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R362S			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	495	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AAAAACGCAGGACTTCCATGT	0.512000													17	53					3.45872e-05	4.01942e-05	1	1	0
LIPF	8513	broad.mit.edu	37	10	90429697	90429697	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:90429697A>G	ENST00000394375.3	+	6	669	c.556A>G	c.(556-558)Acc>Gcc	p.T186A	LIPF_ENST00000355843.2_Missense_Mutation_p.T143A|LIPF_ENST00000238983.4_Missense_Mutation_p.T176A	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	176					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CCAGGGCACCACCATTGGTAA	0.433000													43	118					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696319	107696319	+	Silent	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:107696319A>T	ENST00000388781.3	-	25	3596	c.3513T>A	c.(3511-3513)acT>acA	p.T1171T	LAMB4_ENST00000388780.3_Silent_p.T1171T|LAMB4_ENST00000205386.4_Silent_p.T1171T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1171	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATTGAAGACAAGTAGGGAATT	0.552000													6	85					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147915	27147915	+	Silent	SNP	G	G	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:27147915G>T	ENST00000396352.4	-	3	1150	c.951C>A	c.(949-951)ccC>ccA	p.P317P	HOXA3_ENST00000317201.2_Silent_p.P317P|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	317					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTGCGCAGCTGGGCAGGGACG	0.736000													27	30					1.17739e-12	1.64371e-12	1	1	0
FAM179A	165186	broad.mit.edu	37	2	29225484	29225484	+	Silent	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:29225484G>A	ENST00000379558.4	+	5	861	c.510G>A	c.(508-510)agG>agA	p.R170R	FAM179A_ENST00000403861.2_Silent_p.R170R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	170							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCTGCTGAGGGTGCCCAGGC	0.652000													3	27					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010340	24010340	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr19:24010340A>T	ENST00000496398.1	+	4	800	c.377A>T	c.(376-378)gAc>gTc	p.D126V	RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.D126V|RP11-255H23.2_ENST00000471224.1_RNA																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						GTGGTTACTGACCCCAGGGCT	0.552000													8	57					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97311457	97311457	+	Splice_Site	SNP	A	A	T			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr3:97311457A>T	ENST00000389672.5	+	12	2426	c.2386_splice	c.e12-1	p.R796_splice	EPHA6_ENST00000502694.1_Splice_Site_p.R188_splice|EPHA6_ENST00000514100.1_Splice_Site_p.R188_splice|EPHA6_ENST00000442602.2_Splice_Site_p.R162_splice	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	701	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTTAAAAGGATCCTTCCCGG	0.433000													12	29					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401674	23401674	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr22:23401674C>A	ENST00000216036.4	-	7	1209	c.1013G>T	c.(1012-1014)cGg>cTg	p.R338L		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	338							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)		GATGGCGATCCGGGCTGCCCG	0.562000													35	70					7.11191e-15	1.04308e-14	1	1	0
MUC21	394263	broad.mit.edu	37	6	30951775	30951775	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr6:30951775C>A	ENST00000376296.3	+	1	281	c.40C>A	c.(40-42)Cta>Ata	p.L14I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	14						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TATGTTTGGTCTACTATTGCA	0.438000													13	76					4.3838e-07	5.4098e-07	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23509058	23509058	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:23509058G>A	ENST00000296682.3	+	2	98		c.e2-1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTTCCACAGGAGCCTTTGG	0.572000										HNSCC(3;0.000094)			7	45					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179530469	179530469	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:179530469T>C	ENST00000367615.4	-	3	474	c.406A>G	c.(406-408)Ata>Gta	p.I136V	NPHS2_ENST00000367616.4_Missense_Mutation_p.I136V	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	136					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGTCGGAATATAATTACTCTT	0.378000													41	156					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968044	138968044	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:138968044G>C	ENST00000288561.8	+	15	2393	c.2144G>C	c.(2143-2145)cGt>cCt	p.R715P	UBN2_ENST00000473989.2_Missense_Mutation_p.R798P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	798										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACAAAGCCTCGTCCAGGACTG	0.443000													11	208					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185519	127185519	+	Missense_Mutation	SNP	C	C	A	rs148603135	byFrequency	TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chrX:127185519C>A	ENST00000371124.3	-	1	863	c.667G>T	c.(667-669)Gcc>Tcc	p.A223S		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	223						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGCTCCAAGGCGATGTAGCAC	0.522000													59	28					3.56336e-21	5.71212e-21	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248262775	248262775	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:248262775T>C	ENST00000366478.2	+	3	435	c.98T>C	c.(97-99)aTa>aCa	p.I33T	OR2L13_ENST00000358120.2_Missense_Mutation_p.I33T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCATCCTCATATTCTTTCTG	0.458000													90	107					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													7	154	---	---	---	---					
LOC100130331	100130331	broad.mit.edu	37	1	238090349	238090349	+	RNA	DEL	G	G	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr1:238090349delG	ENST00000450451.1	+	0	1855					NR_027247.2																						CATTGAGCATGGCATCGTCAC	0.587													28	56	---	---	---	---					
REG1P	5969	broad.mit.edu	37	2	79362898	79362899	+	RNA	INS	-	-	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:79362898_79362899insA	ENST00000444841.1	-	0	1439_1440																											TCCTATAAGACAATGAGAAGAT	0.406													6	9	---	---	---	---					
SFTPB	6439	broad.mit.edu	37	2	85890580	85890581	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:85890580_85890581delAG	ENST00000393822.3	-	9	1025_1026	c.926_927delCT	c.(925-927)tfs	p.S309fs	SFTPB_ENST00000519937.2_Frame_Shift_Del_p.S297fs|SFTPB_ENST00000342375.3_Frame_Shift_Del_p.S297fs|SFTPB_ENST00000409383.1_Frame_Shift_Del_p.S309fs			P07988	PSPB_HUMAN	surfactant protein B	297	Saposin B-type 3.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GGTGGCACTCAGAGTCTCGCGG	0.614													7	45	---	---	---	---					
EIF2AK3	9451	broad.mit.edu	37	2	88892863	88892863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:88892863delC	ENST00000303236.3	-	4	995	c.694delG	c.(694-696)agfs	p.E233fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.E82fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	233					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATGTCTTCCTCTTGTTCCATT	0.423													47	76	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103128694	103128695	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:103128694_103128695delTG	ENST00000295269.4	+	7	1978_1979	c.1521_1522delTG	c.(1519-1524)gatgfs	p.DV507fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	507					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAATCGAAGATGTGTGTGGGCA	0.465													29	132	---	---	---	---					
MAP3K2	10746	broad.mit.edu	37	2	128081534	128081534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr2:128081534delC	ENST00000409947.1	-	11	1064	c.782delG	c.(781-783)gafs	p.G262fs	MAP3K2_ENST00000344908.5_Frame_Shift_Del_p.G262fs			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	262					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATATGTTCCTCCTTTTCCAAA	0.274													7	11	---	---	---	---					
HSP90AA4P	3323	broad.mit.edu	37	4	190396010	190396010	+	RNA	DEL	G	G	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr4:190396010delG	ENST00000378770.1	+	0	921																											CAAGCCCTAAGAGACAACTCA	0.443													25	46	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13751221	13751222	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr5:13751221_13751222delTG	ENST00000265104.4	-	65	11280_11281	c.11176_11177delCA	c.(11176-11178)gfs	p.Q3726fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3726	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCAGTAACTGATCTTCTAGA	0.450									Kartagener syndrome				10	155	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	132192404	132192405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr7:132192404_132192405insG	ENST00000359827.3	-	2	2010_2011	c.1048_1049insC	c.(1048-1050)ggafs	p.G350fs	PLXNA4_ENST00000423507.2_Frame_Shift_Ins_p.G350fs|PLXNA4_ENST00000378539.5_Frame_Shift_Ins_p.G350fs|PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.G350fs			Q9HCM2	PLXA4_HUMAN	plexin A4	350	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGACTCATCCAGGGATTTCATT	0.569													7	88	---	---	---	---					
DPP7	29952	broad.mit.edu	37	9	140008408	140008408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr9:140008408delC	ENST00000371579.2	-	4	398	c.394delG	c.(394-396)agfs	p.E132fs		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	132						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGGGCCTGCTCCACCGTCAGC	0.721													5	2	---	---	---	---					
C10orf71	118461	broad.mit.edu	37	10	50530794	50530794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:50530794delC	ENST00000374144.3	+	3	492	c.204delC	c.(202-204)cafs	p.H68fs	C10orf71_ENST00000323868.4_Frame_Shift_Del_p.H68fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	68										endometrium(1)	1						GGACTTTTCACCAGAGAACAG	0.572													9	61	---	---	---	---					
CSTF2T	23283	broad.mit.edu	37	10	53458983	53458983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr10:53458983delG	ENST00000331173.4	-	1	372	c.327delC	c.(325-327)ccfs	p.P109fs	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	109					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AGTCAATAATGGGCGCTGCAG	0.552													9	178	---	---	---	---					
OR5J2	282775	broad.mit.edu	37	11	55944161	55944162	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:55944161_55944162insA	ENST00000312298.1	+	1	68_69	c.68_69insA	c.(67-69)caafs	p.Q23fs		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CATGCTGAACTAAAAGCTGTGC	0.381													47	138	---	---	---	---					
OR6Q1	219952	broad.mit.edu	37	11	57798838	57798838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr11:57798838delT	ENST00000302622.3	+	1	437	c.414delT	c.(412-414)gcfs	p.A138fs	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ACTATGGGGCTTTTGTGTCCT	0.517													46	58	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400736	78400736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr12:78400736delG	ENST00000397909.2	+	8	1591	c.1418delG	c.(1417-1419)agfs	p.R473fs	NAV3_ENST00000536525.2_Frame_Shift_Del_p.R473fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.R473fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.R473fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	473						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAAAGAACAGGGACAAAAAT	0.408										HNSCC(70;0.22)			32	26	---	---	---	---					
IGHV1OR16-2	28314	broad.mit.edu	37	16	32989896	32989897	+	RNA	DEL	TA	TA	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr16:32989896_32989897delTA	ENST00000567619.1	-	0	499																											TCCACTCCTGTATTCTCTCCAC	0.510													5	6	---	---	---	---					
GPR179	440435	broad.mit.edu	37	17	36486757	36486757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr17:36486757delG	ENST00000342292.4	-	11	2715	c.2695delC	c.(2695-2697)tgfs	p.L899fs		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	899						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)				GGAGCTGACAGGGGGGCCCCT	0.662													6	6	---	---	---	---					
SNAP25-AS1	100131208	broad.mit.edu	37	20	10330211	10330211	+	RNA	DEL	C	C	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr20:10330211delC	ENST00000421143.2	-	0	5				SNAP25-AS1_ENST00000453544.1_RNA																							TCTTGGCCTTCAAAGCCTTTG	0.493													19	64	---	---	---	---					
KRTAP23-1	337963	broad.mit.edu	37	21	31720819	31720819	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:31720819delC	ENST00000334160.4	-	1	105	c.106delG	c.(106-108)tcfs	p.V36fs		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	36						intermediate filament				large_intestine(1)|lung(4)|prostate(1)	6						GTGCTGTAGACCAGGTTGCTG	0.572													35	76	---	---	---	---					
KRTAP11-1	337880	broad.mit.edu	37	21	32253665	32253665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N1-01A-11D-A24P-08	TCGA-MN-A4N1-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c50ccd27-edbb-48f8-9633-168462507edd	8030ca48-260a-4c6b-90b5-ba6602c0f960	g.chr21:32253665delC	ENST00000332378.4	-	1	209	c.179delG	c.(178-180)tcfs	p.C61fs		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	61						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGGCTCACAGCAGGTCTCTTG	0.562													23	57	---	---	---	---					
