Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPAG16_chr2_213279464_214415501	213715222	G G	GTCTGTCT others(13): Show GTCTGTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19030.hp1 HG00735.hp1 NA19030.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0054 a0006c0006t0001g0082 a0002c0002t0001g0054 a0006c0006t0001g0082	2	86	0.0233	20	c.107 others(43): Show c.1071-147260_1071-147259insGTCTATCTATCTATCTATCT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213715266	A A	ATCTATCT others(13): Show ATCTATCTATCTATCTATCTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20300.hp1 HG01361.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	86	0.0233	20	c.107 others(43): Show c.1071-147217_1071-147216insTATCTATCTATCTATCTGTC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213754684	A A	ATGAAATC others(13): Show ATGAAATCTTAAATATAACGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00735.hp1 others(69): Show HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18968.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0010 a0010c0011 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001 a0008c0010t0001 a0010c0011t0001 a0011c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(69): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0002g0073 a0002c0002t0002g0074 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0080 a0003c0003t0002g0042 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0005c0005t0001g0005 a0005c0005t0001g0017 a0006c0006t0001g0024 a0006c0006t0001g0082 a0007c0007t0001g0083 a0008c0010t0001g0004 a0010c0011t0001g0086 a0011c0009t0001g0085	72	86	0.8372	20	c.107 others(43): Show c.1071-107795_1071-107794insCTTAAATATAACGTTGAAAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(13): Show TATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	86	0.0116	20	c.140 others(41): Show c.1401-37815_1401-37814insTATATATACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	86	0.0116	20	c.140 others(41): Show c.1401-33225_1401-33224insTATATATAGAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(13): Show TATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0075 a0002c0002t0001g0077	2	86	0.0233	20	c.140 others(41): Show c.1401-33225_1401-33224insTATATATATAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(13): Show TATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	86	0.0116	20	c.140 others(41): Show c.1401-33225_1401-33224insTATATATATATAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(13): Show TATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	86	0.0116	20	c.140 others(41): Show c.1401-33225_1401-33224insTATATATATATATATAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214062020	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0084 a0009c0008t0001g0084	1	86	0.0116	20	c.152 others(41): Show c.1528-46176_1528-46175insACACACACACACACACACAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214195303	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01256.hp1 HG01256.hp2 others(27): Show HG00673.hp2 HG01256.hp1 HG01256.hp2 HG01496.hp2 HG01891.hp2 HG02015.hp1 HG02109.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18977.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0007c0007t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0044 a0002c0002t0001g0010 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0076 a0002c0002t0002g0073 a0002c0002t0002g0074 a0003c0003t0001g0028 a0003c0003t0001g0032 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0062 a0003c0003t0002g0042 a0005c0005t0001g0017 a0007c0007t0001g0083 a0008c0010t0001g0004	30	86	0.3488	20	c.172 others(41): Show c.1720+46050_1720+46069dupGATAGATAGATAGATAGATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214288752	C C	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	86	0.0116	20	c.172 others(43): Show c.1721-121373_1721-121354dupATTTATTTATTTATTTATTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214319200	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01516.hp2 others(4): Show HG01256.hp1 HG01256.hp2 HG01516.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA18977.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0002g0009 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0002g0009 a0002c0002t0001g0058 a0002c0002t0001g0076 a0002c0002t0002g0073 a0003c0003t0001g0046	7	86	0.0814	20	c.172 others(41): Show c.1721-90935_1721-90916dupCACACACACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118085529	T T	TGCGTGCG others(13): Show TGCGTGCGTGCATACGCGTGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	266	0.0038	20	c.176 others(37): Show c.1762+392_1762+393insGCACGCGTATGCACGCACGC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	13/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118089332	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01433.hp2 others(15): Show HG00140.hp2 HG00323.hp1 HG01433.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02615.hp1 HG02896.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0025	a0001c0004 a0001c0027 a0003c0003 others(3): Show a0001c0004 a0001c0027 a0003c0003 a0004c0005 a0009c0009 a0025c0031	a0001c0004t0001 a0001c0027t0001 a0003c0003t0001 others(3): Show a0001c0004t0001 a0001c0027t0001 a0003c0003t0001 a0004c0005t0001 a0009c0009t0002 a0025c0031t0002	a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0224 others(15): Show a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0233 a0001c0004t0001g0250 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0027t0001g0221 a0003c0003t0001g0113 a0004c0005t0001g0080 a0004c0005t0001g0083 a0004c0005t0001g0084 a0004c0005t0001g0120 a0004c0005t0001g0249 a0009c0009t0002g0131 a0025c0031t0002g0007	18	266	0.0677	20	c.135 others(39): Show c.1359+2254_1359+2273dupACACACACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118111553	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0222 a0001c0004t0001g0222	1	266	0.0038	20	c.447 others(37): Show c.447+3737_447+3756dupGTGTGTGTGTGTGTGTGTGT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	4/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100176807	C C	CCCTCTCC others(13): Show CCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02683.hp1 HG03927.hp2 others(3): Show HG02647.hp1 HG02683.hp1 HG03927.hp2 NA18999.hp2 NA19009.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0007 a0001c0002 a0001c0008 a0002c0007	a0001c0002t0001 a0001c0008t0008 a0002c0007t0001 others(1): Show a0001c0002t0001 a0001c0008t0008 a0002c0007t0001 a0002c0007t0002	a0001c0002t0001g0122 a0001c0002t0001g0189 a0001c0008t0008g0246 others(3): Show a0001c0002t0001g0122 a0001c0002t0001g0189 a0001c0008t0008g0246 a0002c0007t0001g0202 a0002c0007t0002g0179 a0002c0007t0002g0180	6	366	0.0164	20	c.301 others(35): Show c.301-993_301-974dupCCTCTCCTCTCCTCTCCTCT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35614343	G G	GTTCTAGT others(13): Show GTTCTAGTGGGCATGGCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	20	c.-16 others(31): Show c.-1661_-1660insTTCTAGTGGGCATGGCAGGC	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		1485		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03130.hp2 NA18945.hp1 HG02683.hp2 HG03130.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	3	320	0.0094	20	c.-58 others(29): Show c.-580_-579insAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0060 a0016c0019t0001g0060	1	330	0.0030	20	c.-18 others(31): Show c.-1805_-1804insATTTTTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01256.hp2 others(1): Show HG00099.hp1 HG00733.hp1 HG01256.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0003 a0001c0001t0001g0006	4	330	0.0121	20	c.-18 others(31): Show c.-1805_-1804insATATATTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03579.hp1 NA18965.hp2 HG02622.hp2 HG03579.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0109 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0109	3	330	0.0091	20	c.-18 others(31): Show c.-1805_-1804insATATATATTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 NA18906.hp1 HG02886.hp2 HG02895.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	330	0.0091	20	c.-18 others(31): Show c.-1805_-1804insATATATATATTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0100 a0001c0001t0001g0011 a0001c0001t0001g0100	2	330	0.0061	20	c.-18 others(31): Show c.-1805_-1804insATATATATATATTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413687	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0129	1	142	0.0070	20	c.146 others(39): Show c.1460+2511_1460+2512insTATATATATATATATATATA	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10			chr10	TogoVar
SPAG7_chr17_4954226_4972817	4965826	G G	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	424	0.0024	20	c.85+ others(35): Show c.85+1874_85+1893dupTAAATAAATAAATAAATAAA	SPAG7	ENSG00000091640.8	transcript	ENST00000206020.8	protein_coding	1/6			chr17	TogoVar
SPAG7_chr17_4954226_4972817	4965826	G G	GTTTGTTT others(13): Show GTTTGTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	424	0.0024	20	c.85+ others(35): Show c.85+1893_85+1894insTAAATAAATAAATAAACAAA	SPAG7	ENSG00000091640.8	transcript	ENST00000206020.8	protein_coding	1/6			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053855	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	292	0.0034	20	c.495 others(37): Show c.495+2537_495+2556dupTATATATATATATATATATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077021	T T	TCTAGCTA others(13): Show TCTAGCTATCTAGCTATCTAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02895.hp2 HG01167.hp2 HG01169.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0274 a0001c0002t0001g0283 a0001c0002t0001g0266 a0001c0002t0001g0274 a0001c0002t0001g0283	3	292	0.0103	20	c.424 others(37): Show c.424+2562_424+2563insCTAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51083543	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0001 a0002c0004t0005g0001	1	292	0.0034	20	c.304 others(37): Show c.304-3859_304-3840dupTAAATAAATAAATAAATAAA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51106102	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	292	0.0034	20	c.303 others(39): Show c.303+14232_303+14251dupGTGTGTGTGTGTGTGTGTGT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPANXB1_chrX_140997594_141008706	141001517	T T	TATGTGCT others(13): Show TATGTGCTCCAAAATTATGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0006 a0011c0006t0006	a0011c0006t0006g0010 a0011c0006t0006g0010	1	301	0.0033	20	c.-11 others(31): Show c.-1177_-1176insATGTGCTCCAAAATTATGGG	SPANXB1	ENSG00000227234.2	transcript	ENST00000449283.2	protein_coding		1076		chrX	TogoVar
SPANXD_chrX_141692411_141703739	141692796	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0022 a0004c0004t0022	a0004c0004t0022g0059 a0004c0004t0022g0059	1	334	0.0030	20	c.46 others(31): Show c.4668_*4669insAAGGAAGGGAGGGAGGGAGG	SPANXD	ENSG00000196406.4	transcript	ENST00000370515.3	protein_coding		4614		chrX	TogoVar
SPANXD_chrX_141692411_141703739	141692796	C C	CCTTCCCT others(13): Show CCTTCCCTCCCTCCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02015.hp1 NA18959.hp1 others(3): Show HG02004.hp2 HG02015.hp1 NA18959.hp1 NA18968.hp2 NA19003.hp2 NA19084.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0009c0011t0015 a0001c0001t0001 a0001c0001t0003 a0009c0011t0015	a0001c0001t0001g0001 a0001c0001t0003g0004 a0009c0011t0015g0038 a0001c0001t0001g0001 a0001c0001t0003g0004 a0009c0011t0015g0038	6	334	0.0180	20	c.46 others(31): Show c.4668_*4669insAAGGAAGGGAGGGAGGGAAG	SPANXD	ENSG00000196406.4	transcript	ENST00000370515.3	protein_coding		4614		chrX	TogoVar
SPANXN1_chrX_145242503_145261208	145260654	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0043 a0001c0002t0006g0043	1	334	0.0030	20	c.48 others(31): Show c.4840_*4841insTCTCTCTCTCTGTGTGTGTG	SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding		4447		chrX	TogoVar
SPANXN1_chrX_145242503_145261208	145260654	C C	CTCTCTCT others(13): Show CTCTCTCTCTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0096 a0001c0002t0011g0096	1	334	0.0030	20	c.48 others(31): Show c.4840_*4841insTCTCTCTCTGTGTGTGTGTG	SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding		4447		chrX	TogoVar
SPANXN1_chrX_145242503_145261208	145260654	C C	CTCTCTCT others(13): Show CTCTCTCTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG03669.hp2 NA18972.hp2 others(5): Show HG02040.hp1 HG03669.hp2 NA18972.hp2 NA19003.hp1 NA19010.hp2 NA19057.hp2 NA19068.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0023 a0001c0002t0002g0088 others(1): Show a0001c0002t0002g0003 a0001c0002t0002g0023 a0001c0002t0002g0088 a0001c0002t0002g0105	8	334	0.0240	20	c.48 others(31): Show c.4840_*4841insTCTCTCTGTGTGTGTGTGTG	SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding		4447		chrX	TogoVar
SPARC_chr5_151656096_151691915	151685422	T T	TCACACAC others(13): Show TCACACACACACACTCACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0294 a0001c0001t0014g0294	1	442	0.0023	20	c.-14 others(37): Show c.-14+1442_-14+1443insTGTGTGAGTGTGTGTGTGTG	SPARC	ENSG00000113140.11	transcript	ENST00000231061.9	protein_coding	1/9			chr5	TogoVar
SPAST_chr2_32058556_32162637	32083768	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	342	0.0029	20	c.416 others(37): Show c.416-3723_416-3722insTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32089218	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03669.hp1 HG04228.hp2 HG03491.hp2 HG03669.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067	3	342	0.0088	20	c.503 others(35): Show c.503-304_503-303insTTTTTTTTTTTTTTTTTTTC	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	2/16			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24238158	A A	ACAGACTC others(13): Show ACAGACTCTTGCTCTATCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0016 a0020 a0026	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0018 a0001c0041 a0001c0056 a0002c0007 a0002c0008 a0002c0037 a0003c0012 a0003c0014 a0004c0039 a0005c0010 a0006c0016 a0006c0021 a0007c0015 a0008c0017 a0009c0042 a0010c0033 a0012c0040 a0013c0044 a0016c0043 a0020c0035 a0026c0049	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(111): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0044 a0001c0001t0047 a0001c0001t0060 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0001t0104 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0021 a0001c0002t0026 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0054 a0001c0002t0071 a0001c0002t0075 a0001c0002t0082 a0001c0002t0084 a0001c0002t0094 a0001c0002t0115 a0001c0002t0122 a0001c0002t0123 a0001c0002t0129 a0001c0002t0132 a0001c0003t0004 a0001c0003t0017 a0001c0003t0020 a0001c0003t0062 a0001c0004t0001 a0001c0004t0032 a0001c0004t0072 a0001c0005t0003 a0001c0005t0016 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0006t0014 a0001c0009t0001 a0001c0013t0018 a0001c0013t0130 a0001c0018t0002 a0001c0018t0006 a0001c0041t0005 a0001c0056t0005 a0002c0007t0012 a0002c0007t0021 a0002c0007t0076 a0002c0007t0083 a0002c0007t0087 a0002c0007t0125 a0002c0008t0025 a0002c0008t0095 a0002c0008t0102 a0002c0008t0103 a0002c0008t0109 a0002c0037t0043 a0003c0012t0008 a0003c0012t0030 a0003c0014t0024 a0003c0014t0036 a0003c0014t0047 a0004c0039t0002 a0005c0010t0037 a0005c0010t0074 a0005c0010t0116 a0006c0016t0001 a0006c0021t0119 a0007c0015t0032 a0007c0015t0070 a0007c0015t0078 a0008c0017t0041 a0008c0017t0053 a0009c0042t0067 a0010c0033t0126 a0012c0040t0009 a0013c0044t0019 a0016c0043t0127 a0020c0035t0096 a0026c0049t0011	a0001c0001t0002g0082 a0001c0001t0002g0119 a0001c0001t0002g0132 others(184): Show a0001c0001t0002g0082 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0002g0186 a0001c0001t0003g0024 a0001c0001t0003g0213 a0001c0001t0003g0227 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0274 a0001c0001t0003g0291 a0001c0001t0003g0297 a0001c0001t0003g0303 a0001c0001t0004g0042 a0001c0001t0004g0058 a0001c0001t0004g0080 a0001c0001t0004g0130 a0001c0001t0004g0135 a0001c0001t0004g0167 a0001c0001t0004g0205 a0001c0001t0004g0210 a0001c0001t0005g0001 a0001c0001t0005g0067 a0001c0001t0005g0076 a0001c0001t0005g0089 a0001c0001t0005g0138 a0001c0001t0005g0177 a0001c0001t0006g0033 a0001c0001t0006g0286 a0001c0001t0006g0313 a0001c0001t0006g0321 a0001c0001t0011g0237 a0001c0001t0011g0269 a0001c0001t0017g0333 a0001c0001t0017g0334 a0001c0001t0019g0166 a0001c0001t0020g0087 a0001c0001t0020g0124 a0001c0001t0022g0257 a0001c0001t0023g0004 a0001c0001t0023g0228 a0001c0001t0025g0169 a0001c0001t0027g0301 a0001c0001t0028g0011 a0001c0001t0028g0219 a0001c0001t0029g0019 a0001c0001t0029g0028 a0001c0001t0034g0048 a0001c0001t0044g0018 a0001c0001t0047g0098 a0001c0001t0060g0152 a0001c0001t0061g0170 a0001c0001t0065g0109 a0001c0001t0066g0153 a0001c0001t0104g0030 a0001c0001t0110g0324 a0001c0001t0112g0223 a0001c0001t0113g0230 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0084 a0001c0002t0001g0105 a0001c0002t0001g0136 a0001c0002t0001g0147 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0007g0112 a0001c0002t0007g0115 a0001c0002t0007g0173 a0001c0002t0007g0175 a0001c0002t0008g0090 a0001c0002t0008g0100 a0001c0002t0008g0102 a0001c0002t0008g0103 a0001c0002t0008g0118 a0001c0002t0008g0134 a0001c0002t0008g0142 a0001c0002t0008g0154 a0001c0002t0009g0287 a0001c0002t0009g0319 a0001c0002t0009g0336 a0001c0002t0009g0345 a0001c0002t0010g0323 a0001c0002t0012g0221 a0001c0002t0012g0295 a0001c0002t0013g0075 a0001c0002t0013g0150 a0001c0002t0013g0182 a0001c0002t0013g0202 a0001c0002t0013g0348 a0001c0002t0014g0282 a0001c0002t0018g0265 a0001c0002t0021g0356 a0001c0002t0026g0063 a0001c0002t0026g0206 a0001c0002t0031g0281 a0001c0002t0032g0332 a0001c0002t0033g0222 a0001c0002t0039g0079 a0001c0002t0039g0183 a0001c0002t0040g0046 a0001c0002t0041g0083 a0001c0002t0042g0099 a0001c0002t0043g0193 a0001c0002t0050g0027 a0001c0002t0050g0338 a0001c0002t0051g0247 a0001c0002t0051g0280 a0001c0002t0052g0012 a0001c0002t0052g0013 a0001c0002t0054g0300 a0001c0002t0071g0184 a0001c0002t0075g0191 a0001c0002t0082g0061 a0001c0002t0084g0104 a0001c0002t0094g0114 a0001c0002t0115g0246 a0001c0002t0122g0278 a0001c0002t0123g0234 a0001c0002t0129g0032 a0001c0002t0132g0292 a0001c0003t0004g0253 a0001c0003t0017g0344 a0001c0003t0020g0107 a0001c0003t0062g0258 a0001c0004t0001g0078 a0001c0004t0032g0328 a0001c0004t0072g0122 a0001c0005t0003g0316 a0001c0005t0003g0325 a0001c0005t0016g0106 a0001c0006t0001g0146 a0001c0006t0007g0145 a0001c0006t0012g0279 a0001c0006t0014g0285 a0001c0009t0001g0139 a0001c0009t0001g0140 a0001c0009t0001g0141 a0001c0013t0018g0355 a0001c0013t0130g0197 a0001c0018t0002g0077 a0001c0018t0006g0243 a0001c0041t0005g0161 a0001c0056t0005g0095 a0002c0007t0012g0023 a0002c0007t0021g0158 a0002c0007t0076g0200 a0002c0007t0083g0149 a0002c0007t0087g0353 a0002c0007t0125g0021 a0002c0008t0025g0178 a0002c0008t0095g0155 a0002c0008t0102g0270 a0002c0008t0103g0054 a0002c0008t0109g0031 a0002c0037t0043g0038 a0003c0012t0008g0151 a0003c0012t0030g0220 a0003c0012t0030g0241 a0003c0012t0030g0242 a0003c0014t0024g0148 a0003c0014t0036g0201 a0003c0014t0047g0235 a0004c0039t0002g0043 a0005c0010t0037g0069 a0005c0010t0037g0192 a0005c0010t0074g0273 a0005c0010t0116g0196 a0006c0016t0001g0065 a0006c0016t0001g0113 a0006c0021t0119g0266 a0007c0015t0032g0244 a0007c0015t0070g0039 a0007c0015t0078g0349 a0008c0017t0041g0097 a0008c0017t0053g0271 a0009c0042t0067g0341 a0010c0033t0126g0252 a0012c0040t0009g0293 a0013c0044t0019g0110 a0016c0043t0127g0010 a0020c0035t0096g0203 a0026c0049t0011g0302	187	356	0.5253	20	c.165 others(41): Show c.1654-11304_1654-11285dupATCTCCCAGACTCTTGCTCT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24278970	T T	TTCCCTCC others(13): Show TTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0002 a0001c0005t0003g0002	1	356	0.0028	20	c.216 others(39): Show c.2165-5159_2165-5140dupCCCTCCCTCCCTCCCTCCCT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24278992	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0086 a0001c0029t0086	a0001c0029t0086g0209 a0001c0029t0086g0209	1	356	0.0028	20	c.216 others(39): Show c.2165-5140_2165-5139insCCCTCCCTCCCTCCCTTCCT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG06807.hp1 NA18946.hp2 others(2): Show HG02965.hp1 HG06807.hp1 NA18946.hp2 NA18960.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0016 a0001c0001 a0001c0002 a0006c0016	a0001c0001t0015 a0001c0001t0028 a0001c0002t0001 others(2): Show a0001c0001t0015 a0001c0001t0028 a0001c0002t0001 a0001c0002t0021 a0006c0016t0001	a0001c0001t0015g0250 a0001c0001t0028g0011 a0001c0002t0001g0181 others(2): Show a0001c0001t0015g0250 a0001c0001t0028g0011 a0001c0002t0001g0181 a0001c0002t0021g0356 a0006c0016t0001g0113	5	356	0.0140	20	c.65 others(31): Show c.6510_*6511insTATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172961069	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03017.hp1 HG03017.hp2 HG02258.hp2 HG03017.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0194 a0002c0002t0001g0121 a0001c0001t0001g0056 a0001c0001t0001g0194 a0002c0002t0001g0121	3	200	0.0150	20	c.934 others(37): Show c.934-4265_934-4246dupGAAGGAAGGAAGGAAGGAAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	172961069	T T	TCTTCCTT others(13): Show TCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG01109.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0139 a0002c0002t0001g0141	2	200	0.0100	20	c.934 others(37): Show c.934-4246_934-4245insGAAGAAAGGAAGAAAGGAAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173027974	T T	TCTCCCTC others(13): Show TCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0077 a0003c0003t0001g0077	1	200	0.0050	20	c.759 others(37): Show c.759-8419_759-8400dupGGAGGGAGGGAGGGAGGGAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18971.hp2 NA18995.hp1 others(1): Show HG03471.hp2 NA18971.hp2 NA18995.hp1 NA19068.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0001 a0010c0011t0003 a0001c0001t0001 a0010c0011t0003	a0001c0001t0001g0078 a0001c0001t0001g0189 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0078 a0001c0001t0001g0189 a0001c0001t0001g0192 a0010c0011t0003g0010	4	200	0.0200	20	c.759 others(37): Show c.759-8439_759-8438insAAAGAAGGAAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01081.hp1 HG01109.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0041 a0003c0003t0001g0174 a0001c0001t0001g0041 a0003c0003t0001g0174	2	200	0.0100	20	c.759 others(37): Show c.759-8439_759-8438insAAGGAAAGAAGGAAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028015	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp2 HG01934.hp1 others(3): Show HG01255.hp2 HG01433.hp2 HG01934.hp1 HG02572.hp1 NA18983.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0094 a0002c0002t0001g0105 a0003c0003t0001g0009 a0003c0003t0001g0030	6	200	0.0300	20	c.759 others(37): Show c.759-8441_759-8440insAGAAGGAAGGGAGGGAGGGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217712128	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0092 a0001c0009t0019g0092	1	252	0.0040	20	c.395 others(39): Show c.395+28771_395+28772insTTTTTTTTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar

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