Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPATA20_chr17_50542174_50560852	50547946	GGGGGAGG others(5): Show GGGGGAGGGGCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp1 others(11): Show HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01123.hp1 HG01261.hp2 HG01952.hp1 HG02602.hp1 HG02735.hp2 HG03654.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA19009.hp2 NA19087.hp2	a0005 a0007 a0010 a0005 a0007 a0010	a0005c0005 a0007c0009 a0010c0023 a0005c0005 a0007c0009 a0010c0023	a0005c0005t0001 a0007c0009t0001 a0010c0023t0001 a0005c0005t0001 a0007c0009t0001 a0010c0023t0001	a0005c0005t0001g0005 a0005c0005t0001g0018 a0005c0005t0001g0078 others(2): Show a0005c0005t0001g0005 a0005c0005t0001g0018 a0005c0005t0001g0078 a0007c0009t0001g0005 a0010c0023t0001g0018	14	334	0.0419	-12	c.125 others(27): Show c.125+189_125+200delCCTGGGGAGGGG		SPATA20	ENSG00000006282.22	transcript	ENST00000006658.11	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPATA20_chr17_50542174_50560852	50554885	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG02630.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0052 a0001c0001t0001g0075	2	334	0.0060	-12	c.215 others(29): Show c.2158-314_2158-303delTGTGTGTGTGTG		SPATA20	ENSG00000006282.22	transcript	ENST00000006658.11	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPATA24_chr5_139391767_139409089	139404640	GGCACTAG others(5): Show GGCACTAGAGTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	336	0.0030	-12	c.-59 others(21): Show c.-592_-581delAGACTCTAGTGC		SPATA24	ENSG00000170469.11	transcript	ENST00000450845.7	protein_coding					552		chr5	TogoVar
SPATA25_chr20_45881491_45892622	45884105	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0013 a0004c0006t0001g0013	1	406	0.0025	-12	c.24 others(23): Show c.2400_*2411delGTGTGTGTGTGT		SPATA25	ENSG00000149634.5	transcript	ENST00000372519.4	protein_coding					2385		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49903898	GATAGATA others(5): Show GATAGATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02258.hp1 NA19005.hp2 others(2): Show HG01884.hp2 HG02258.hp1 NA19005.hp2 NA19062.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0075 a0001c0001t0084 a0001c0004t0033 a0001c0001t0075 a0001c0001t0084 a0001c0004t0033	a0001c0001t0075g0165 a0001c0001t0084g0161 a0001c0004t0033g0027 a0001c0001t0075g0165 a0001c0001t0084g0161 a0001c0004t0033g0027	5	426	0.0117	-12	c.17 others(23): Show c.1709_*1720delATATATATCTAT		SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3				1709		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49903902	GATATATA others(5): Show GATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0062 a0001c0001t0077g0062	1	426	0.0024	-12	c.17 others(23): Show c.1705_*1716delATATATATATAT		SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3				1705		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49916307	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0130 a0001c0001t0010g0130	1	426	0.0024	-12	c.-10 others(23): Show c.-1042_-1031delTTTTTTTTTTTT		SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding					779		chr20	TogoVar
SPATA31A7_chr9_61185036_61201280	61193509	CTGGGGCC others(5): Show CTGGGGCCCGAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03453.hp1 NA18997.hp2 HG03453.hp1 NA18997.hp2	a0026 a0039 a0026 a0039	a0026c0039 a0039c0047 a0026c0039 a0039c0047	a0026c0039t0007 a0039c0047t0008 a0026c0039t0007 a0039c0047t0008	a0026c0039t0007g0068 a0039c0047t0008g0008 a0026c0039t0007g0068 a0039c0047t0008g0008	2	225	0.0089	-12	c.142 others(21): Show c.1424_1435delTGGGGCCCGAGT	p.Leu others(19): Show p.Leu475_Cys479delinsArg	SPATA31A7	ENSG00000276040.5	transcript	ENST00000619167.2	protein_coding	4/4	1453/4223	1424/4044	475/1347			chr9	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03579.hp1 HG04184.hp2 others(2): Show HG01433.hp1 HG03579.hp1 HG04184.hp2 NA18952.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0020 a0002c0002t0001g0020 a0001c0001t0001g0020 a0002c0002t0001g0020	5	380	0.0132	-12	c.293 others(25): Show c.293+74_293+85delTTTTTTTTTTTT		SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34886746	ATCTATCT others(5): Show ATCTATCTATCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG01496.hp2 others(4): Show HG01074.hp1 HG01109.hp1 HG01496.hp2 HG02976.hp2 HG03195.hp2 NA18522.hp2 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0010 a0005c0005t0001g0020 a0005c0005t0001g0010 a0005c0005t0001g0020	7	434	0.0161	-12	c.26 others(23): Show c.2606_*2617delCAGATAGATAGA		SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding					2319		chr9	TogoVar
SPATA32_chr17_45249393_45267094	45250258	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18978.hp1 NA19004.hp2 NA18973.hp2 NA18978.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0105 a0001c0001t0001g0002 a0001c0001t0001g0105	3	414	0.0073	-12	c.41 others(23): Show c.4156_*4167delGTGTGTGTGTGT		SPATA32	ENSG00000184361.13	transcript	ENST00000331780.5	protein_coding					4134		chr17	TogoVar
SPATA3_chr2_230991121_231013040	231005163	CCATCATC others(5): Show CCATCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02895.hp1 others(1): Show HG02615.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0011 a0002c0002 a0007c0011	a0002c0002t0004 a0007c0011t0002 a0002c0002t0004 a0007c0011t0002	a0002c0002t0004g0022 a0007c0011t0002g0022 a0002c0002t0004g0022 a0007c0011t0002g0022	4	436	0.0092	-12	c.11 others(31): Show c.118+1060_*118+1071delTCATCACCATCA		SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA45_chr1_212825141_212852649	212843100	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	402	0.0025	-12	c.-39 others(29): Show c.-39+4468_-39+4479delGTGTGTGTGTGT		SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding	1/2						chr1	TogoVar
SPATA48_chr7_50090883_50164256	50125185	CATATATA others(5): Show CATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG03486.hp1 HG01891.hp2 HG02965.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0252 a0002c0005t0001g0262 a0002c0005t0001g0264 a0002c0005t0001g0252 a0002c0005t0001g0262 a0002c0005t0001g0264	3	328	0.0092	-12	c.652 others(29): Show c.652-4502_652-4491delTACACATATATA		SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50145612	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG03516.hp2 HG02559.hp1 HG02717.hp2 HG03516.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0004 a0002c0005 a0004c0004	a0002c0005t0001 a0004c0004t0001 a0002c0005t0001 a0004c0004t0001	a0002c0005t0001g0260 a0002c0005t0001g0261 a0004c0004t0001g0239 a0002c0005t0001g0260 a0002c0005t0001g0261 a0004c0004t0001g0239	3	328	0.0092	-12	c.108 others(31): Show c.1085+4226_1085+4237delGTGTGTATATAT		SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122996570	CAGATAGA others(5): Show CAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	262	0.0038	-12	c.186 others(33): Show c.1869+17227_1869+17238delATAGATAGATAG		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007602	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0029 a0001c0001t0014 a0001c0001t0029	a0001c0001t0014g0125 a0001c0001t0029g0126 a0001c0001t0014g0125 a0001c0001t0029g0126	2	262	0.0076	-12	c.187 others(33): Show c.1870-20582_1870-20571delGTGTGTATATAT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123017249	GGAGAGCG others(5): Show GGAGAGCGAGAGC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp1 HG01934.hp2 others(10): Show HG01106.hp2 HG01346.hp1 HG01934.hp2 HG02165.hp1 HG02280.hp2 HG03098.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG04199.hp1 HG04228.hp2 NA18954.hp2 NA18992.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0006 a0001c0001 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0009 a0003c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0009 a0003c0003t0001 a0003c0003t0005 a0003c0003t0022 a0003c0003t0023 a0003c0003t0042 a0003c0003t0055 a0004c0006t0054 a0004c0006t0056	a0001c0001t0001g0253 a0001c0001t0009g0094 a0003c0003t0001g0010 others(10): Show a0001c0001t0001g0253 a0001c0001t0009g0094 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0005g0005 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0042g0006 a0003c0003t0055g0012 a0004c0006t0054g0004 a0004c0006t0056g0014	13	262	0.0496	-12	c.187 others(33): Show c.1870-10918_1870-10907delGAGAGCGAGAGC		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123017414	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01346.hp1 others(26): Show HG00642.hp2 HG01109.hp1 HG01346.hp1 HG01934.hp1 HG01934.hp2 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG03041.hp2 HG03098.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18944.hp1 NA18957.hp2 NA18965.hp2 NA18992.hp1 NA19012.hp1 NA19066.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0006 a0001c0001 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0061 a0003c0003t0001 a0003c0003t0005 a0003c0003t0022 a0003c0003t0023 a0003c0003t0042 a0003c0003t0055 a0004c0006t0054 a0004c0006t0056	a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0191 others(26): Show a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0001g0252 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0255 a0001c0001t0005g0028 a0001c0001t0007g0198 a0001c0001t0013g0071 a0001c0001t0024g0029 a0001c0001t0025g0069 a0001c0001t0061g0047 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0005g0005 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0042g0006 a0003c0003t0055g0012 a0004c0006t0054g0004 a0004c0006t0056g0014	29	262	0.1107	-12	c.187 others(33): Show c.1870-10749_1870-10738delTTTTTTTTTTTT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123102798	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0030 a0001c0001t0048g0030	1	262	0.0038	-12	c.234 others(33): Show c.2340+12122_2340+12133delTGTGTGTGTGTG		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123164355	ATATTTTT others(5): Show ATATTTTTTGTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(79): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0058 a0001c0001t0062 a0001c0001t0074 a0003c0003t0001	a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0107 others(79): Show a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0072 a0001c0001t0002g0230 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0006g0098 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0016g0044 a0001c0001t0016g0213 a0001c0001t0018g0184 a0001c0001t0020g0052 a0001c0001t0020g0210 a0001c0001t0037g0153 a0001c0001t0038g0154 a0001c0001t0040g0248 a0001c0001t0041g0109 a0001c0001t0044g0236 a0001c0001t0045g0215 a0001c0001t0046g0183 a0001c0001t0047g0225 a0001c0001t0048g0030 a0001c0001t0058g0226 a0001c0001t0062g0237 a0001c0001t0074g0076 a0003c0003t0001g0010 a0003c0003t0001g0011	82	262	0.3130	-12	c.234 others(33): Show c.2340+73664_2340+73675delATTTTTTGTTTT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123179307	CTACTTAC others(5): Show CTACTTACTTACT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01123.hp1 others(33): Show HG00639.hp2 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01975.hp1 HG02040.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18961.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0004 a0005c0008 others(1): Show a0001c0001 a0001c0004 a0005c0008 a0006c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0052 a0001c0001t0074 a0001c0004t0002 a0001c0004t0011 a0001c0004t0013 a0001c0004t0031 a0001c0004t0032 a0001c0004t0069 a0005c0008t0015 a0005c0008t0030 a0006c0007t0064 a0006c0007t0066	a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0040 others(33): Show a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0255 a0001c0001t0006g0003 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0011g0178 a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 a0001c0001t0014g0122 a0001c0001t0014g0125 a0001c0001t0015g0181 a0001c0001t0018g0184 a0001c0001t0019g0001 a0001c0001t0019g0002 a0001c0001t0021g0179 a0001c0001t0021g0180 a0001c0001t0029g0126 a0001c0001t0034g0262 a0001c0001t0035g0261 a0001c0001t0052g0245 a0001c0001t0074g0076 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0013g0144 a0001c0004t0031g0147 a0001c0004t0032g0146 a0001c0004t0069g0143 a0005c0008t0015g0243 a0005c0008t0030g0242 a0006c0007t0064g0256 a0006c0007t0066g0254	36	262	0.1374	-12	c.234 others(33): Show c.2341-76686_2341-76675delCTTACTTACTTA		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123183929	TATTTATT others(5): Show TATTTATTCATTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	262	0.0038	-12	c.234 others(33): Show c.2341-72083_2341-72072delTATTCATTCATT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123189809	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0184 a0001c0001t0018g0184	1	262	0.0038	-12	c.234 others(33): Show c.2341-66194_2341-66183delTTTTTTTTTTTT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123218640	TATACATA others(5): Show TATACATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03579.hp1 others(1): Show HG02965.hp2 HG02976.hp1 HG03579.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0014 a0001c0001t0029 a0003c0003t0002 a0001c0001t0014 a0001c0001t0029 a0003c0003t0002	a0001c0001t0014g0122 a0001c0001t0014g0125 a0001c0001t0029g0126 others(1): Show a0001c0001t0014g0122 a0001c0001t0014g0125 a0001c0001t0029g0126 a0003c0003t0002g0015	4	262	0.0153	-12	c.234 others(33): Show c.2341-37334_2341-37323delTACATACATACA		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123279642	CCTATAGA others(5): Show CCTATAGAAAGCA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0069 a0001c0004t0069	a0001c0004t0069g0143 a0001c0004t0069g0143	1	262	0.0038	-12	c.250 others(33): Show c.2505+23465_2505+23476delATAGAAAGCACT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123311625	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(88): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG04115.hp2 HG04199.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0058 a0001c0009t0001 a0002c0002t0018 a0003c0003t0001	a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(88): Show a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0003g0066 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0117 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0006g0003 a0001c0001t0006g0098 a0001c0001t0006g0128 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0016g0044 a0001c0001t0016g0213 a0001c0001t0018g0184 a0001c0001t0020g0052 a0001c0001t0020g0210 a0001c0001t0034g0262 a0001c0001t0035g0261 a0001c0001t0036g0132 a0001c0001t0037g0153 a0001c0001t0038g0154 a0001c0001t0040g0248 a0001c0001t0041g0109 a0001c0001t0044g0236 a0001c0001t0045g0215 a0001c0001t0046g0183 a0001c0001t0047g0225 a0001c0001t0048g0030 a0001c0001t0058g0226 a0001c0009t0001g0134 a0002c0002t0018g0155 a0003c0003t0001g0010 a0003c0003t0001g0011	91	262	0.3473	-12	c.250 others(31): Show c.2506-2243_2506-2232delAAAAAAAAAAAA		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4597319	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG06807.hp1 HG01891.hp2 HG06807.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0033 a0005c0009t0033	a0005c0009t0033g0175 a0005c0009t0033g0178 a0005c0009t0033g0175 a0005c0009t0033g0178	2	408	0.0049	-12	c.34 others(23): Show c.3480_*3491delGTGTGTGTGTGT		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding					996		chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4638785	CTTTTCTT others(5): Show CTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG00741.hp2 others(36): Show HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01192.hp1 HG01255.hp2 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp1 NA18988.hp2 NA18991.hp1 NA19004.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0004t0022 a0001c0006t0024 a0001c0006t0028 a0001c0006t0031 a0001c0006t0032 a0001c0006t0048 a0002c0002t0007 a0009c0020t0018	a0001c0001t0001g0025 a0001c0001t0001g0148 a0001c0001t0001g0218 others(36): Show a0001c0001t0001g0025 a0001c0001t0001g0148 a0001c0001t0001g0218 a0001c0001t0001g0316 a0001c0001t0002g0086 a0001c0001t0002g0227 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0008g0060 a0001c0001t0008g0108 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0315 a0001c0001t0010g0142 a0001c0001t0012g0079 a0001c0001t0012g0118 a0001c0001t0012g0119 a0001c0001t0012g0120 a0001c0001t0014g0081 a0001c0001t0019g0080 a0001c0001t0019g0233 a0001c0001t0023g0176 a0001c0001t0023g0186 a0001c0001t0023g0187 a0001c0001t0024g0144 a0001c0001t0028g0133 a0001c0001t0037g0122 a0001c0001t0039g0018 a0001c0004t0022g0150 a0001c0004t0022g0156 a0001c0006t0024g0163 a0001c0006t0024g0345 a0001c0006t0028g0174 a0001c0006t0031g0181 a0001c0006t0032g0153 a0001c0006t0032g0162 a0001c0006t0048g0091 a0002c0002t0007g0362 a0009c0020t0018g0251	39	408	0.0956	-12	c.227 others(29): Show c.227-3398_227-3387delAAAAAAAGAAAA		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11						chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4644183	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	408	0.0025	-12	c.227 others(29): Show c.227-8796_227-8785delTTTTTTTTTTTT		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11						chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4644685	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	408	0.0025	-12	c.227 others(29): Show c.227-9298_227-9287delTGTGTGTGTGTG		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11						chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4649060	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG02965.hp1 HG00741.hp2 HG01884.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0118 a0001c0001t0012g0119 a0001c0001t0012g0120 a0001c0001t0012g0118 a0001c0001t0012g0119 a0001c0001t0012g0120	3	408	0.0074	-12	c.226 others(29): Show c.226+6969_226+6980delGTGTGTGTGTAT		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11						chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4649062	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00735.hp1 others(53): Show HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG02129.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18991.hp1 NA19005.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0005 a0005c0009 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 a0001c0001t0036 a0001c0001t0045 a0001c0004t0008 a0001c0004t0022 a0001c0006t0028 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0005t0005 a0005c0009t0033 a0011c0019t0042	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0123 others(52): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0123 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0002g0076 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0227 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0004g0103 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0008g0108 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0315 a0001c0001t0010g0095 a0001c0001t0010g0166 a0001c0001t0011g0089 a0001c0001t0011g0104 a0001c0001t0013g0002 a0001c0001t0013g0126 a0001c0001t0014g0167 a0001c0001t0018g0078 a0001c0001t0022g0082 a0001c0001t0028g0133 a0001c0001t0036g0192 a0001c0001t0045g0021 a0001c0004t0008g0114 a0001c0004t0022g0156 a0001c0006t0028g0174 a0002c0002t0004g0101 a0002c0002t0004g0102 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0007g0388 a0002c0002t0007g0389 a0002c0002t0007g0390 a0002c0002t0009g0353 a0002c0005t0005g0093 a0005c0009t0033g0175 a0005c0009t0033g0178 a0011c0019t0042g0155	56	408	0.1373	-12	c.226 others(29): Show c.226+6967_226+6978delGTGTGTGTGTGT		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11						chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4656441	AAAGGAAG others(5): Show AAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02083.hp2 HG02630.hp2 others(6): Show HG01109.hp2 HG02083.hp2 HG02630.hp2 HG02818.hp2 HG03130.hp1 HG06807.hp1 NA18906.hp1 NA18971.hp2 NA19007.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0005c0009	a0001c0001t0002 a0001c0001t0014 a0001c0001t0019 others(6): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0019 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0004t0008 a0001c0006t0032 a0005c0009t0033	a0001c0001t0002g0217 a0001c0001t0014g0081 a0001c0001t0019g0080 others(6): Show a0001c0001t0002g0217 a0001c0001t0014g0081 a0001c0001t0019g0080 a0001c0001t0053g0226 a0001c0001t0054g0141 a0001c0001t0055g0154 a0001c0004t0008g0114 a0001c0006t0032g0153 a0005c0009t0033g0175	9	408	0.0221	-12	c.178 others(27): Show c.178-364_178-353delCCTTCCTTCCTT		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	2/11						chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4656494	AAGGAAGG others(5): Show AAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA21309.hp1 HG02145.hp1 NA21309.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0017 a0003c0003 a0010c0017	a0003c0003t0005 a0010c0017t0052 a0003c0003t0005 a0010c0017t0052	a0003c0003t0005g0171 a0010c0017t0052g0185 a0003c0003t0005g0171 a0010c0017t0052g0185	2	408	0.0049	-12	c.178 others(27): Show c.178-417_178-406delCCCTTCCTTCCT		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	2/11						chr9	TogoVar
SPATA6_chr1_48290373_48477204	48340241	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19057.hp1 NA19086.hp1 NA18966.hp1 NA19057.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0257 a0001c0001t0004g0263 a0001c0001t0004g0277 a0001c0001t0004g0257 a0001c0001t0004g0263 a0001c0001t0004g0277	3	322	0.0093	-12	c.119 others(33): Show c.1194+15417_1194+15428delTTTTTTTTTTTT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	11/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48371270	TATAGATA others(5): Show TATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02572.hp2 others(6): Show HG02055.hp2 HG02559.hp1 HG02572.hp2 HG02723.hp1 HG02922.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0001c0001t0025 a0001c0001t0044	a0001c0001t0004g0229 a0001c0001t0009g0208 a0001c0001t0009g0227 others(6): Show a0001c0001t0004g0229 a0001c0001t0009g0208 a0001c0001t0009g0227 a0001c0001t0010g0211 a0001c0001t0023g0096 a0001c0001t0023g0099 a0001c0001t0025g0209 a0001c0001t0025g0210 a0001c0001t0044g0322	9	322	0.0280	-12	c.910 others(31): Show c.910-11512_910-11501delCTATCTATCTAT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48380694	AAGATCAA others(5): Show AAGATCAATAGGT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	322	0.0031	-12	c.909 others(29): Show c.909+4603_909+4614delACCTATTGATCT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384344	CAGGGACA others(5): Show CAGGGACAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02083.hp2 HG01081.hp1 HG02083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0006g0146 a0002c0002t0001g0038 a0001c0001t0006g0146 a0002c0002t0001g0038	2	322	0.0062	-12	c.909 others(27): Show c.909+953_909+964delCTCCCTGTCCCT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384350	CAGGGAGA others(5): Show CAGGGAGAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01168.hp1 others(33): Show HG00140.hp2 HG00423.hp1 HG01168.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp2 HG03139.hp1 HG03834.hp1 HG04184.hp1 NA18943.hp2 NA18948.hp2 NA18954.hp2 NA18959.hp2 NA18968.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA19006.hp2 NA19007.hp2 NA19043.hp2 NA19066.hp1 NA19068.hp1 NA19085.hp1 NA19091.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0002c0002t0001 a0002c0002t0005	a0001c0001t0003g0225 a0001c0001t0003g0254 a0001c0001t0004g0256 others(33): Show a0001c0001t0003g0225 a0001c0001t0003g0254 a0001c0001t0004g0256 a0001c0001t0004g0264 a0001c0001t0004g0270 a0001c0001t0004g0274 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0292 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0166 a0001c0001t0010g0103 a0001c0001t0010g0137 a0001c0001t0012g0255 a0001c0001t0012g0280 a0001c0001t0012g0282 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0005g0015 a0002c0002t0005g0022 a0002c0002t0005g0088	36	322	0.1118	-12	c.909 others(27): Show c.909+947_909+958delCTCCCTCTCCCT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48445659	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0044 a0001c0001t0009 a0001c0001t0044	a0001c0001t0009g0102 a0001c0001t0044g0322 a0001c0001t0009g0102 a0001c0001t0044g0322	2	322	0.0062	-12	c.238 others(29): Show c.238+5881_238+5892delTTTTTTTTTTTT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	3/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48469472	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	322	0.0031	-12	c.51+ others(27): Show c.51+2474_51+2485delTATATATATATA		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	1/12						chr1	TogoVar
SPATA7_chr14_88380657_88443460	88402959	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02109.hp1 HG02145.hp2 others(16): Show HG00642.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0005 a0004c0004 a0006c0005	a0004c0004t0001 a0006c0005t0001 a0006c0005t0003 a0004c0004t0001 a0006c0005t0001 a0006c0005t0003	a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0037 others(11): Show a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0037 a0004c0004t0001g0038 a0004c0004t0001g0278 a0004c0004t0001g0279 a0004c0004t0001g0280 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0283 a0004c0004t0001g0284 a0006c0005t0001g0014 a0006c0005t0001g0039 a0006c0005t0003g0015	19	364	0.0522	-12	c.238 others(29): Show c.238+6769_238+6780delAAAAAAAAAAAA		SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATA7_chr14_88380657_88443460	88425549	CTATCTGT others(5): Show CTATCTGTGTTTT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0070 a0011c0014t0001g0070	1	364	0.0028	-12	c.373 others(27): Show c.373-680_373-669delTCTGTGTTTTTA		SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATS1_chr6_44337650_44385179	44349288	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0122 a0001c0004t0012g0122	1	392	0.0026	-12	c.140 others(29): Show c.140-3425_140-3414delAAAAAAAAAAAA		SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATS1_chr6_44337650_44385179	44354363	AAATAAAT others(5): Show AAATAAATAAATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	392	0.0026	-12	c.287 others(29): Show c.287+1491_287+1502delAATAAATAAATG		SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	3/8						chr6	TogoVar
SPATS1_chr6_44337650_44385179	44378350	AAACCTTA others(5): Show AAACCTTAAAGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0231 a0001c0001t0046g0231	1	392	0.0026	-12	c.12 others(23): Show c.1288_*1299delAACCTTAAAGTG		SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	9/9				1288		chr6	TogoVar
SPATS2L_chr2_200301693_200487264	200352309	GTTTTTAT others(5): Show GTTTTTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	300	0.0033	-12	c.-23 others(31): Show c.-23+22831_-23+22842delTTTTATATATAT		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200352311	TTTTATAT others(5): Show TTTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01361.hp2 others(11): Show HG01074.hp2 HG01099.hp1 HG01361.hp2 HG01517.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02896.hp1 HG02976.hp1 HG03225.hp2 HG03579.hp1 HG04184.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0066 a0001c0002t0070 a0002c0004t0012	a0001c0001t0003g0092 a0001c0001t0006g0044 a0001c0001t0012g0078 others(11): Show a0001c0001t0003g0092 a0001c0001t0006g0044 a0001c0001t0012g0078 a0001c0001t0014g0050 a0001c0001t0014g0106 a0001c0001t0014g0128 a0001c0001t0014g0134 a0001c0001t0017g0087 a0001c0001t0017g0142 a0001c0001t0021g0014 a0001c0001t0021g0075 a0001c0001t0066g0125 a0001c0002t0070g0147 a0002c0004t0012g0132	14	300	0.0467	-12	c.-23 others(31): Show c.-23+22833_-23+22844delTTATATATATAT		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396056	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0065 a0001c0010t0065	a0001c0010t0065g0004 a0001c0010t0065g0004	1	300	0.0033	-12	c.39+ others(27): Show c.39+6775_39+6786delATATATATATTT		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results