Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SPECC1_chr17_20004359_20324026	20051068	T T	TTCTCTTT others(1): Show TTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02155.hp2 NA19081.hp1 HG01993.hp2 HG02155.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0033 a0004c0005t0009 a0004c0005t0023 a0001c0003t0033 a0004c0005t0009 a0004c0005t0023	a0001c0003t0033g0164 a0004c0005t0009g0226 a0004c0005t0023g0234 a0001c0003t0033g0164 a0004c0005t0009g0226 a0004c0005t0023g0234	3	250	0.0120	8	c.-22 others(27): Show c.-22+41645_-22+41646insCTCTTTCT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20082994	G G	GTTCGTTC others(1): Show GTTCGTTCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02717.hp2 others(2): Show HG02109.hp2 HG02145.hp2 HG02717.hp2 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 others(1): Show a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 a0001c0006t0047	a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 others(2): Show a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 a0001c0006t0045g0071 a0001c0006t0047g0067	5	250	0.0200	8	c.-21 others(27): Show c.-21-13630_-21-13629insATTCGTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20083002	G G	GTTCGTTC others(1): Show GTTCGTTCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02647.hp2 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0040 a0001c0003t0035 a0001c0003t0040	a0001c0003t0035g0243 a0001c0003t0040g0206 a0001c0003t0035g0243 a0001c0003t0040g0206	2	250	0.0080	8	c.-21 others(27): Show c.-21-13626_-21-13625insGTTCATTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20118115	T T	TAATAAAT others(1): Show TAATAAATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG03041.hp2 others(2): Show HG02630.hp1 HG02895.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0017 a0001c0003t0018 a0001c0003t0007 a0001c0003t0017 a0001c0003t0018	a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(2): Show a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 a0001c0003t0017g0060 a0001c0003t0018g0061	5	250	0.0200	8	c.283 others(25): Show c.283+7568_283+7575dupTAAATAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20182119	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01993.hp2 HG02109.hp1 others(12): Show HG01952.hp1 HG01993.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG03098.hp1 HG03471.hp2 HG03486.hp2 HG04184.hp2 NA18522.hp1 NA19087.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0002c0002	a0001c0001t0078 a0001c0001t0085 a0001c0001t0086 others(11): Show a0001c0001t0078 a0001c0001t0085 a0001c0001t0086 a0001c0001t0094 a0001c0003t0033 a0001c0003t0050 a0001c0003t0051 a0001c0003t0060 a0001c0003t0107 a0001c0006t0061 a0001c0010t0099 a0001c0010t0100 a0002c0002t0005 a0002c0002t0069	a0001c0001t0078g0116 a0001c0001t0085g0183 a0001c0001t0086g0159 others(12): Show a0001c0001t0078g0116 a0001c0001t0085g0183 a0001c0001t0086g0159 a0001c0001t0094g0171 a0001c0003t0033g0146 a0001c0003t0033g0164 a0001c0003t0050g0209 a0001c0003t0051g0216 a0001c0003t0060g0195 a0001c0003t0107g0218 a0001c0006t0061g0009 a0001c0010t0099g0173 a0001c0010t0100g0102 a0002c0002t0005g0045 a0002c0002t0069g0051	15	250	0.0600	8	c.284 others(27): Show c.284-22211_284-22204dupTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20190394	G G	GCTGCTGC others(1): Show GCTGCTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(99): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18951.hp1 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp1 NA19004.hp1 NA19009.hp2 NA19012.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(49): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0102 a0001c0003t0050 a0001c0003t0051 a0001c0003t0107 a0001c0006t0052 a0001c0006t0061 a0001c0006t0091 a0001c0008t0088 a0001c0008t0089 a0001c0008t0096 a0001c0008t0104 a0001c0009t0105 a0001c0009t0106 a0001c0010t0099 a0001c0010t0100 a0001c0011t0006 a0001c0011t0010 a0001c0014t0002 a0003c0004t0043	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(99): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0004g0007 a0001c0001t0004g0109 a0001c0001t0004g0113 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0141 a0001c0001t0004g0145 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0172 a0001c0001t0004g0245 a0001c0001t0006g0005 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0001t0006g0126 a0001c0001t0006g0133 a0001c0001t0006g0157 a0001c0001t0006g0177 a0001c0001t0006g0247 a0001c0001t0010g0107 a0001c0001t0010g0151 a0001c0001t0010g0250 a0001c0001t0013g0144 a0001c0001t0013g0152 a0001c0001t0013g0249 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0015g0108 a0001c0001t0015g0137 a0001c0001t0015g0143 a0001c0001t0025g0155 a0001c0001t0025g0158 a0001c0001t0026g0184 a0001c0001t0026g0186 a0001c0001t0027g0185 a0001c0001t0027g0187 a0001c0001t0028g0148 a0001c0001t0028g0150 a0001c0001t0030g0178 a0001c0001t0030g0181 a0001c0001t0031g0002 a0001c0001t0031g0180 a0001c0001t0041g0024 a0001c0001t0073g0122 a0001c0001t0074g0130 a0001c0001t0077g0170 a0001c0001t0078g0116 a0001c0001t0079g0119 a0001c0001t0080g0199 a0001c0001t0081g0142 a0001c0001t0082g0153 a0001c0001t0084g0188 a0001c0001t0085g0183 a0001c0001t0086g0159 a0001c0001t0087g0134 a0001c0001t0090g0161 a0001c0001t0092g0004 a0001c0001t0093g0101 a0001c0001t0094g0171 a0001c0001t0095g0221 a0001c0001t0097g0149 a0001c0001t0098g0179 a0001c0001t0102g0162 a0001c0003t0050g0209 a0001c0003t0051g0216 a0001c0003t0107g0218 a0001c0006t0052g0014 a0001c0006t0061g0009 a0001c0006t0091g0193 a0001c0008t0088g0124 a0001c0008t0089g0140 a0001c0008t0096g0123 a0001c0008t0104g0104 a0001c0009t0105g0128 a0001c0009t0106g0127 a0001c0010t0099g0173 a0001c0010t0100g0102 a0001c0011t0006g0135 a0001c0011t0010g0136 a0001c0014t0002g0139 a0003c0004t0043g0203	102	250	0.4080	8	c.284 others(27): Show c.284-13928_284-13921dupGCTGCCCT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG02148.hp2 others(5): Show HG01261.hp1 HG02145.hp1 HG02148.hp2 HG02293.hp1 HG02647.hp2 HG02717.hp1 HG04204.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0003c0007 a0001c0003 a0003c0004 a0003c0007	a0001c0003t0032 a0001c0003t0040 a0003c0004t0003 others(3): Show a0001c0003t0032 a0001c0003t0040 a0003c0004t0003 a0003c0004t0054 a0003c0007t0003 a0003c0007t0016	a0001c0003t0032g0156 a0001c0003t0032g0163 a0001c0003t0040g0206 others(5): Show a0001c0003t0032g0156 a0001c0003t0032g0163 a0001c0003t0040g0206 a0003c0004t0003g0090 a0003c0004t0054g0217 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0007t0016g0081	8	250	0.0320	8	c.259 others(27): Show c.2599-2271_2599-2264dupAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20254134	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02015.hp2 HG02027.hp1 others(15): Show HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA19004.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 a0001c0001 a0001c0003 a0001c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0027 a0001c0001t0080 a0001c0001t0081 a0001c0003t0007 a0001c0003t0017 a0001c0003t0018 a0001c0003t0035 a0001c0003t0107 a0001c0016t0103	a0001c0001t0002g0117 a0001c0001t0004g0007 a0001c0001t0004g0145 others(15): Show a0001c0001t0002g0117 a0001c0001t0004g0007 a0001c0001t0004g0145 a0001c0001t0013g0144 a0001c0001t0027g0187 a0001c0001t0080g0199 a0001c0001t0081g0142 a0001c0003t0007g0057 a0001c0003t0007g0062 a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 a0001c0003t0017g0060 a0001c0003t0018g0061 a0001c0003t0018g0213 a0001c0003t0035g0243 a0001c0003t0107g0218 a0001c0016t0103g0103	18	250	0.0720	8	c.268 others(25): Show c.2680+583_2680+590dupGTGTGTGT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	AATTTTTT others(1): Show AATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG03540.hp1 others(1): Show HG02258.hp1 HG02717.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0032 a0001c0003t0071 a0001c0010t0099 a0001c0003t0032 a0001c0003t0071 a0001c0010t0099	a0001c0003t0032g0156 a0001c0003t0032g0163 a0001c0003t0071g0054 others(1): Show a0001c0003t0032g0156 a0001c0003t0032g0163 a0001c0003t0071g0054 a0001c0010t0099g0173	4	250	0.0160	8	c.31 others(19): Show c.3194_*3195insATTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3195		chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(1): Show ATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01106.hp1 others(36): Show HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02723.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18957.hp2 NA18968.hp2 NA18998.hp2 NA19043.hp1 NA19080.hp2 NA19087.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0002c0002 a0003c0004 others(3): Show a0001c0003 a0002c0002 a0003c0004 a0003c0007 a0003c0012 a0004c0005	a0001c0003t0018 a0001c0003t0033 a0001c0003t0039 others(16): Show a0001c0003t0018 a0001c0003t0033 a0001c0003t0039 a0001c0003t0050 a0001c0003t0055 a0001c0003t0075 a0001c0003t0107 a0002c0002t0068 a0002c0002t0069 a0003c0004t0003 a0003c0004t0019 a0003c0004t0029 a0003c0004t0034 a0003c0004t0043 a0003c0004t0054 a0003c0004t0113 a0003c0007t0003 a0003c0012t0108 a0004c0005t0058	a0001c0003t0018g0061 a0001c0003t0018g0213 a0001c0003t0033g0146 others(36): Show a0001c0003t0018g0061 a0001c0003t0018g0213 a0001c0003t0033g0146 a0001c0003t0033g0164 a0001c0003t0039g0207 a0001c0003t0050g0209 a0001c0003t0055g0196 a0001c0003t0075g0147 a0001c0003t0107g0218 a0002c0002t0068g0048 a0002c0002t0069g0051 a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0220 a0003c0004t0019g0211 a0003c0004t0019g0215 a0003c0004t0029g0191 a0003c0004t0029g0192 a0003c0004t0034g0082 a0003c0004t0034g0094 a0003c0004t0043g0203 a0003c0004t0054g0217 a0003c0004t0113g0087 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0012t0108g0100 a0004c0005t0058g0239	39	250	0.1560	8	c.32 others(19): Show c.3208_*3215dupTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF1_chr20_3772504_3786448	3780312	C C	CGACAAGA others(1): Show CGACAAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00642.hp2 others(2): Show HG00099.hp2 HG00140.hp1 HG00642.hp2 HG03654.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	5	418	0.0120	8	c.110 others(23): Show c.110-545_110-538dupCTCTTGTC	SPEF1	ENSG00000101222.12	transcript	ENST00000379756.3	protein_coding	1/6			chr20	TogoVar
SPEF2_chr5_35612863_35819611	35661254	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG02735.hp2 others(1): Show HG01257.hp2 HG01261.hp2 HG02735.hp2 NA19081.hp2	a0001 a0009 a0042 a0001 a0009 a0042	a0001c0002 a0009c0010 a0042c0031 a0001c0002 a0009c0010 a0042c0031	a0001c0002t0001 a0009c0010t0001 a0042c0031t0001 a0001c0002t0001 a0009c0010t0001 a0042c0031t0001	a0001c0002t0001g0062 a0001c0002t0001g0091 a0009c0010t0001g0047 others(1): Show a0001c0002t0001g0062 a0001c0002t0001g0091 a0009c0010t0001g0047 a0042c0031t0001g0083	4	268	0.0149	8	c.116 others(27): Show c.1167+2085_1167+2092dupATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35714680	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00673.hp1 others(58): Show HG00408.hp1 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01891.hp2 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02258.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19081.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0014 a0015 a0017 a0022 a0030 a0038 a0040 a0041 a0042 a0043	a0001c0002 a0001c0003 a0002c0001 others(19): Show a0001c0002 a0001c0003 a0002c0001 a0002c0041 a0004c0005 a0004c0012 a0005c0006 a0006c0007 a0007c0011 a0007c0045 a0008c0009 a0010c0013 a0014c0019 a0015c0023 a0017c0018 a0022c0040 a0030c0027 a0038c0052 a0040c0037 a0041c0035 a0042c0031 a0043c0026	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(19): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0041t0001 a0004c0005t0001 a0004c0012t0001 a0005c0006t0001 a0006c0007t0001 a0007c0011t0001 a0007c0045t0001 a0008c0009t0001 a0010c0013t0001 a0014c0019t0001 a0015c0023t0001 a0017c0018t0001 a0022c0040t0001 a0030c0027t0001 a0038c0052t0001 a0040c0037t0001 a0041c0035t0001 a0042c0031t0001 a0043c0026t0001	a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0075 others(58): Show a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0075 a0001c0002t0001g0091 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0003t0001g0024 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0089 a0001c0003t0001g0107 a0001c0003t0001g0177 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0021 a0002c0001t0001g0043 a0002c0001t0001g0149 a0002c0001t0001g0154 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0239 a0002c0001t0001g0250 a0002c0001t0001g0261 a0002c0001t0001g0263 a0002c0041t0001g0141 a0004c0005t0001g0065 a0004c0005t0001g0112 a0004c0005t0001g0114 a0004c0005t0001g0131 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0205 a0004c0012t0001g0237 a0005c0006t0001g0104 a0005c0006t0001g0106 a0005c0006t0001g0175 a0005c0006t0001g0178 a0006c0007t0001g0171 a0006c0007t0001g0186 a0006c0007t0001g0187 a0006c0007t0001g0188 a0007c0011t0001g0144 a0007c0045t0001g0130 a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 a0008c0009t0001g0168 a0008c0009t0001g0169 a0010c0013t0001g0194 a0014c0019t0001g0105 a0015c0023t0001g0200 a0017c0018t0001g0152 a0022c0040t0001g0009 a0030c0027t0001g0192 a0038c0052t0001g0230 a0040c0037t0001g0262 a0041c0035t0001g0046 a0042c0031t0001g0083 a0043c0026t0001g0191	61	268	0.2276	8	c.291 others(27): Show c.2914+1829_2914+1836dupTATTTATT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751025	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(31): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02083.hp2 HG02273.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 NA18966.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA19065.hp2 NA19085.hp1 NA20905.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0006 a0015 a0016 a0032 a0039	a0001c0002 a0001c0003 a0003c0004 others(8): Show a0001c0002 a0001c0003 a0003c0004 a0003c0022 a0003c0050 a0004c0005 a0006c0007 a0015c0023 a0016c0021 a0032c0036 a0039c0048	a0001c0002t0001 a0001c0003t0001 a0003c0004t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0003c0004t0001 a0003c0022t0001 a0003c0050t0001 a0004c0005t0001 a0006c0007t0001 a0015c0023t0001 a0016c0021t0001 a0032c0036t0001 a0039c0048t0001	a0001c0002t0001g0067 a0001c0003t0001g0031 a0003c0004t0001g0004 others(31): Show a0001c0002t0001g0067 a0001c0003t0001g0031 a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0092 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0124 a0003c0004t0001g0204 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0225 a0003c0004t0001g0243 a0003c0004t0001g0246 a0003c0022t0001g0219 a0003c0022t0001g0220 a0003c0050t0001g0244 a0004c0005t0001g0065 a0004c0005t0001g0129 a0006c0007t0001g0171 a0015c0023t0001g0200 a0016c0021t0001g0100 a0016c0021t0001g0233 a0032c0036t0001g0155 a0039c0048t0001g0232	34	268	0.1269	8	c.333 others(27): Show c.3331-2596_3331-2589dupTATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751034	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG03239.hp2 HG00642.hp1 HG01074.hp1 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0069 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0069 a0003c0004t0001g0096 a0003c0004t0001g0097	3	268	0.0112	8	c.333 others(27): Show c.3331-2589_3331-2588insTATATACA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35751092	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG03834.hp2 HG01109.hp1 HG02896.hp2 HG03834.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0011c0024 a0003c0004 a0011c0024	a0003c0004t0001 a0011c0024t0001 a0003c0004t0001 a0011c0024t0001	a0003c0004t0001g0121 a0003c0004t0001g0122 a0011c0024t0001g0139 a0003c0004t0001g0121 a0003c0004t0001g0122 a0011c0024t0001g0139	3	268	0.0112	8	c.333 others(27): Show c.3331-2531_3331-2530insTATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35769989	A A	ATATCTGT others(1): Show ATATCTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(30): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG02083.hp2 HG02273.hp2 HG02486.hp1 HG02922.hp1 HG03209.hp1 HG03209.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 NA18522.hp1 NA18974.hp2 NA19085.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0011 a0013 a0016 a0021 a0034	a0001c0002 a0003c0004 a0003c0022 others(8): Show a0001c0002 a0003c0004 a0003c0022 a0003c0050 a0004c0005 a0006c0007 a0011c0015 a0013c0017 a0016c0021 a0021c0049 a0034c0054	a0001c0002t0001 a0003c0004t0001 a0003c0022t0001 others(8): Show a0001c0002t0001 a0003c0004t0001 a0003c0022t0001 a0003c0050t0001 a0004c0005t0001 a0006c0007t0001 a0011c0015t0001 a0013c0017t0001 a0016c0021t0001 a0021c0049t0001 a0034c0054t0001	a0001c0002t0001g0044 a0001c0002t0001g0067 a0003c0004t0001g0005 others(30): Show a0001c0002t0001g0044 a0001c0002t0001g0067 a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0204 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0223 a0003c0004t0001g0225 a0003c0004t0001g0243 a0003c0004t0001g0246 a0003c0022t0001g0219 a0003c0022t0001g0220 a0003c0050t0001g0244 a0004c0005t0001g0163 a0006c0007t0001g0171 a0011c0015t0001g0138 a0013c0017t0001g0013 a0013c0017t0001g0014 a0016c0021t0001g0100 a0016c0021t0001g0233 a0021c0049t0001g0137 a0034c0054t0001g0185	33	268	0.1231	8	c.380 others(27): Show c.3802-1619_3802-1618insATCTGTGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35777664	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00673.hp2 others(39): Show HG00408.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG02056.hp2 HG02559.hp2 HG02647.hp1 HG02723.hp2 HG03098.hp1 HG03492.hp2 HG03704.hp1 HG03927.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19060.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0020 a0037 a0041	a0001c0002 a0001c0003 a0002c0001 others(9): Show a0001c0002 a0001c0003 a0002c0001 a0004c0005 a0005c0006 a0006c0007 a0007c0016 a0007c0045 a0009c0010 a0020c0053 a0037c0043 a0041c0035	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(9): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0007c0016t0001 a0007c0045t0001 a0009c0010t0001 a0020c0053t0001 a0037c0043t0001 a0041c0035t0001	a0001c0002t0001g0022 a0001c0002t0001g0060 a0001c0002t0001g0199 others(38): Show a0001c0002t0001g0022 a0001c0002t0001g0060 a0001c0002t0001g0199 a0001c0003t0001g0029 a0001c0003t0001g0074 a0001c0003t0001g0078 a0001c0003t0001g0264 a0002c0001t0001g0002 a0002c0001t0001g0208 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0231 a0004c0005t0001g0101 a0004c0005t0001g0111 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0117 a0004c0005t0001g0118 a0004c0005t0001g0119 a0004c0005t0001g0120 a0004c0005t0001g0123 a0004c0005t0001g0131 a0004c0005t0001g0189 a0004c0005t0001g0205 a0004c0005t0001g0206 a0005c0006t0001g0257 a0006c0007t0001g0181 a0006c0007t0001g0182 a0006c0007t0001g0183 a0006c0007t0001g0186 a0006c0007t0001g0187 a0006c0007t0001g0188 a0007c0016t0001g0156 a0007c0016t0001g0158 a0007c0016t0001g0159 a0007c0045t0001g0130 a0009c0010t0001g0048 a0020c0053t0001g0161 a0037c0043t0001g0226 a0041c0035t0001g0046	42	268	0.1567	8	c.421 others(27): Show c.4217+1311_4217+1318dupAATAAATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35793759	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp1 HG02486.hp2 others(6): Show HG01192.hp2 HG02145.hp1 HG02486.hp2 HG02559.hp1 HG03486.hp1 NA18977.hp1 NA19007.hp1 NA19056.hp1 NA19240.hp2	a0001 a0002 a0043 a0001 a0002 a0043	a0001c0003 a0002c0001 a0002c0041 others(1): Show a0001c0003 a0002c0001 a0002c0041 a0043c0026	a0001c0003t0001 a0002c0001t0001 a0002c0041t0001 others(1): Show a0001c0003t0001 a0002c0001t0001 a0002c0041t0001 a0043c0026t0001	a0001c0003t0001g0073 a0002c0001t0001g0148 a0002c0001t0001g0149 others(6): Show a0001c0003t0001g0073 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0193 a0002c0001t0001g0253 a0002c0041t0001g0141 a0043c0026t0001g0191	9	268	0.0336	8	c.473 others(25): Show c.4737+425_4737+426insTACACACA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	32/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35797317	G G	GGTGTGTC others(1): Show GGTGTGTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01496.hp1 others(17): Show HG01109.hp1 HG01175.hp2 HG01496.hp1 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03654.hp1 HG04199.hp2 NA18522.hp1 NA18977.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA19007.hp2 NA19011.hp1 NA19079.hp1 NA20905.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0010 a0034	a0001c0003 a0003c0004 a0005c0006 others(3): Show a0001c0003 a0003c0004 a0005c0006 a0006c0007 a0010c0013 a0034c0054	a0001c0003t0001 a0003c0004t0001 a0005c0006t0001 others(3): Show a0001c0003t0001 a0003c0004t0001 a0005c0006t0001 a0006c0007t0001 a0010c0013t0001 a0034c0054t0001	a0001c0003t0001g0108 a0003c0004t0001g0006 a0003c0004t0001g0098 others(14): Show a0001c0003t0001g0108 a0003c0004t0001g0006 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0102 a0003c0004t0001g0110 a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0127 a0005c0006t0001g0001 a0005c0006t0001g0173 a0005c0006t0001g0174 a0005c0006t0001g0176 a0005c0006t0001g0257 a0006c0007t0001g0171 a0010c0013t0001g0242 a0034c0054t0001g0185	20	268	0.0746	8	c.483 others(27): Show c.4830+1528_4830+1529insCTGTGTGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEG_chr2_219429843_219498629	219431548	T T	TTTCCTTC others(1): Show TTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02886.hp2 others(1): Show HG02109.hp2 HG02723.hp2 HG02886.hp2 HG03130.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0008 a0007c0013 a0001c0002 a0002c0008 a0007c0013	a0001c0002t0002 a0002c0008t0002 a0007c0013t0003 a0001c0002t0002 a0002c0008t0002 a0007c0013t0003	a0001c0002t0002g0282 a0002c0008t0002g0214 a0002c0008t0002g0215 others(1): Show a0001c0002t0002g0282 a0002c0008t0002g0214 a0002c0008t0002g0215 a0007c0013t0003g0109	4	304	0.0132	8	c.-34 others(19): Show c.-3430_-3429insTTCCTTCC	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding		3294		chr2	TogoVar
SPEG_chr2_219429843_219498629	219440561	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03831.hp2 HG03927.hp1 others(2): Show HG02572.hp2 HG03831.hp2 HG03927.hp1 NA18955.hp1 NA19043.hp1	a0001 a0002 a0046 others(1): Show a0001 a0002 a0046 a0048	a0001c0002 a0002c0003 a0046c0074 others(1): Show a0001c0002 a0002c0003 a0046c0074 a0048c0086	a0001c0002t0001 a0002c0003t0002 a0002c0003t0005 others(2): Show a0001c0002t0001 a0002c0003t0002 a0002c0003t0005 a0046c0074t0002 a0048c0086t0002	a0001c0002t0001g0219 a0002c0003t0002g0101 a0002c0003t0005g0099 others(2): Show a0001c0002t0001g0219 a0002c0003t0002g0101 a0002c0003t0005g0099 a0046c0074t0002g0275 a0048c0086t0002g0276	5	304	0.0165	8	c.389 others(25): Show c.389-4055_389-4048dupTTTATTTA	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEM1_chr17_7415324_7426632	7424547	T T	TTTCCTTC others(1): Show TTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(16): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG01074.hp2 HG01975.hp1 HG02040.hp1 HG02071.hp1 HG02976.hp1 HG03710.hp2 HG04199.hp2 NA18944.hp2 NA18947.hp1 NA18966.hp1 NA19055.hp1 NA19080.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0001t0001 a0001c0006t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0006t0001g0001 a0001c0008t0001g0001 a0001c0001t0001g0001 a0001c0006t0001g0001 a0001c0008t0001g0001	19	398	0.0477	8	c.29 others(19): Show c.2942_*2943insTTCCTTCC	SPEM1	ENSG00000181323.8	transcript	ENST00000323675.4	protein_coding		2916		chr17	TogoVar
SPEM2_chr17_7420616_7432568	7424547	T T	TTTCCTTC others(1): Show TTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(17): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00733.hp2 HG01074.hp2 HG01975.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02602.hp1 HG02602.hp2 HG03710.hp1 HG04199.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp2 NA18966.hp1 NA19080.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0001c0001t0001g0001 a0002c0002t0001g0001	20	364	0.0550	8	c.-11 others(19): Show c.-1142_-1141insTTCCTTCC	SPEM2	ENSG00000184560.8	transcript	ENST00000333870.8	protein_coding		1068		chr17	TogoVar
SPEM3_chr17_7423857_7437820	7424547	T T	TTTCCTTC others(1): Show TTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00733.hp2 others(11): Show HG00280.hp1 HG00558.hp2 HG00733.hp2 HG01074.hp2 HG01975.hp1 HG02071.hp2 HG02602.hp1 HG02602.hp2 HG03710.hp1 HG04199.hp2 NA18941.hp1 NA18944.hp1 NA18966.hp1 NA19080.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0025 a0001c0001 a0015c0025	a0001c0001t0001 a0015c0025t0001 a0001c0001t0001 a0015c0025t0001	a0001c0001t0001g0001 a0015c0025t0001g0001 a0001c0001t0001g0001 a0015c0025t0001g0001	14	354	0.0396	8	c.-43 others(19): Show c.-4356_-4355insTTCCTTCC	SPEM3	ENSG00000283439.4	transcript	ENST00000636696.4	protein_coding		4309		chr17	TogoVar
SPEN_chr1_15842707_15945456	15859905	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01243.hp2 others(3): Show HG00741.hp2 HG01074.hp2 HG01243.hp2 HG04204.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0043 a0001c0001 a0001c0004 a0001c0043	a0001c0001t0006 a0001c0004t0001 a0001c0043t0001 a0001c0001t0006 a0001c0004t0001 a0001c0043t0001	a0001c0001t0006g0097 a0001c0004t0001g0083 a0001c0004t0001g0084 others(3): Show a0001c0001t0006g0097 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0090 a0001c0043t0001g0093	6	304	0.0197	8	c.83+ others(25): Show c.83+11772_83+11779dupTTTTTTTT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15860378	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01516.hp1 HG02132.hp1 others(3): Show HG00642.hp2 HG01516.hp1 HG02132.hp1 HG04204.hp2 NA18984.hp2 NA19086.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0004 a0001c0015 others(2): Show a0001c0001 a0001c0004 a0001c0015 a0002c0002 a0016c0031	a0001c0001t0001 a0001c0004t0001 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0015t0001 a0002c0002t0001 a0016c0031t0001	a0001c0001t0001g0057 a0001c0001t0001g0298 a0001c0004t0001g0084 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0298 a0001c0004t0001g0084 a0001c0015t0001g0046 a0002c0002t0001g0274 a0016c0031t0001g0007	6	304	0.0197	8	c.83+ others(25): Show c.83+12261_83+12268dupGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15869580	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00639.hp2 others(96): Show HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp2 NA18987.hp2 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0011 a0018 a0019 a0020 a0021 a0026 a0029	a0001c0001 a0001c0004 a0001c0023 others(17): Show a0001c0001 a0001c0004 a0001c0023 a0001c0028 a0001c0029 a0001c0042 a0002c0002 a0002c0018 a0004c0009 a0006c0008 a0008c0010 a0009c0013 a0010c0016 a0011c0036 a0018c0030 a0019c0020 a0020c0024 a0021c0035 a0026c0033 a0029c0032	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0023t0003 a0001c0028t0001 a0001c0029t0001 a0001c0042t0001 a0002c0002t0001 a0002c0002t0004 a0002c0018t0001 a0004c0009t0001 a0006c0008t0001 a0008c0010t0001 a0009c0013t0002 a0010c0016t0001 a0011c0036t0001 a0018c0030t0001 a0019c0020t0001 a0020c0024t0001 a0021c0035t0001 a0026c0033t0001 a0029c0032t0001	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 others(96): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0006g0097 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0095 a0001c0004t0001g0275 a0001c0023t0003g0006 a0001c0028t0001g0088 a0001c0029t0001g0094 a0001c0042t0001g0197 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0082 a0002c0002t0001g0195 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0251 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0285 a0002c0002t0004g0244 a0002c0018t0001g0276 a0004c0009t0001g0189 a0006c0008t0001g0099 a0008c0010t0001g0218 a0008c0010t0001g0219 a0008c0010t0001g0220 a0009c0013t0002g0054 a0009c0013t0002g0055 a0010c0016t0001g0284 a0011c0036t0001g0265 a0018c0030t0001g0080 a0019c0020t0001g0110 a0020c0024t0001g0304 a0021c0035t0001g0217 a0026c0033t0001g0255 a0029c0032t0001g0087	99	304	0.3257	8	c.84- others(23): Show c.84-3208_84-3201dupTTATTTAT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15898173	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG01516.hp2 others(4): Show HG01256.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG02004.hp1 HG02109.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0201	7	304	0.0230	8	c.882 others(27): Show c.882-11118_882-11111dupGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG01891.hp2 others(5): Show HG01106.hp2 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG03139.hp2 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 others(5): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0005t0001g0210 a0001c0005t0001g0287	8	304	0.0263	8	c.882 others(25): Show c.882-4851_882-4844dupAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15936642	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(86): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03669.hp1 HG03688.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2	a0001 a0003 a0005 others(8): Show a0001 a0003 a0005 a0013 a0014 a0015 a0022 a0023 a0025 a0028 a0030	a0001c0001 a0001c0014 a0003c0003 others(9): Show a0001c0001 a0001c0014 a0003c0003 a0005c0011 a0013c0045 a0014c0019 a0015c0046 a0022c0038 a0023c0044 a0025c0040 a0028c0039 a0030c0041	a0001c0001t0001 a0001c0014t0001 a0003c0003t0001 others(10): Show a0001c0001t0001 a0001c0014t0001 a0003c0003t0001 a0003c0003t0007 a0005c0011t0001 a0013c0045t0001 a0014c0019t0001 a0015c0046t0001 a0022c0038t0001 a0023c0044t0001 a0025c0040t0001 a0028c0039t0001 a0030c0041t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 others(86): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0014t0001g0019 a0001c0014t0001g0034 a0003c0003t0001g0109 a0003c0003t0001g0121 a0003c0003t0001g0123 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0303 a0003c0003t0007g0162 a0005c0011t0001g0003 a0005c0011t0001g0159 a0005c0011t0001g0175 a0013c0045t0001g0022 a0014c0019t0001g0035 a0015c0046t0001g0125 a0022c0038t0001g0151 a0023c0044t0001g0180 a0025c0040t0001g0176 a0028c0039t0001g0154 a0030c0041t0001g0164	89	304	0.2928	8	c.100 others(27): Show c.10026+382_10026+389dupAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPG11_chr15_44557696_44668662	44641586	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp2 others(6): Show HG00408.hp2 HG00423.hp1 HG00609.hp2 HG01981.hp1 HG02572.hp2 HG03927.hp2 NA18954.hp1 NA19064.hp2 NA19076.hp1	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0001 a0003c0003 a0021c0018 a0001c0001 a0003c0003 a0021c0018	a0001c0001t0001 a0003c0003t0001 a0021c0018t0001 a0001c0001t0001 a0003c0003t0001 a0021c0018t0001	a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0070 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0003c0003t0001g0003 a0021c0018t0001g0097	9	190	0.0474	8	c.160 others(27): Show c.1602+7272_1602+7279dupGTGTGTGT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPG21_chr15_64958022_64994914	64980737	C C	CAACAAAC others(1): Show CAACAAACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02886.hp2 others(6): Show HG00609.hp1 HG01884.hp1 HG02886.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp2 NA18747.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0007g0101	9	352	0.0256	8	c.225 others(23): Show c.225+119_225+126dupTGTTTGTT	SPG21	ENSG00000090487.11	transcript	ENST00000204566.7	protein_coding	3/8			chr15	TogoVar
SPHKAP_chr2_227974955_228186687	228063143	C C	CCTATCTA others(1): Show CCTATCTAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01099.hp2 others(31): Show HG00408.hp2 HG00558.hp2 HG01099.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG02132.hp1 HG02293.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02976.hp1 HG03490.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18967.hp1 NA18968.hp1 NA18978.hp1 NA19003.hp1 NA19054.hp1 NA19054.hp2 NA19080.hp2 NA19084.hp1 NA20805.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0009 a0010 a0015	a0001c0001 a0002c0002 a0004c0003 others(7): Show a0001c0001 a0002c0002 a0004c0003 a0005c0004 a0005c0018 a0005c0020 a0006c0007 a0009c0010 a0010c0009 a0015c0017	a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 others(10): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0004c0003t0001 a0004c0003t0003 a0005c0004t0003 a0005c0004t0016 a0005c0018t0003 a0005c0020t0003 a0006c0007t0001 a0009c0010t0004 a0010c0009t0003 a0015c0017t0012	a0001c0001t0002g0053 a0001c0001t0002g0085 a0001c0001t0002g0219 others(31): Show a0001c0001t0002g0053 a0001c0001t0002g0085 a0001c0001t0002g0219 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0291 a0001c0001t0008g0264 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0181 a0002c0002t0001g0268 a0004c0003t0001g0171 a0004c0003t0001g0208 a0004c0003t0001g0295 a0004c0003t0003g0064 a0005c0004t0003g0021 a0005c0004t0003g0072 a0005c0004t0003g0194 a0005c0004t0003g0206 a0005c0004t0003g0240 a0005c0004t0003g0244 a0005c0004t0003g0253 a0005c0004t0003g0277 a0005c0004t0003g0278 a0005c0004t0016g0060 a0005c0018t0003g0172 a0005c0020t0003g0142 a0006c0007t0001g0189 a0009c0010t0004g0032 a0010c0009t0003g0251 a0015c0017t0012g0292	34	322	0.1056	8	c.247 others(27): Show c.247-35608_247-35601dupATAGATAG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228063174	A A	ATCTATCT others(1): Show ATCTATCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01106.hp2 others(9): Show HG00642.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01978.hp1 HG02895.hp1 HG02965.hp1 HG03579.hp2 NA19088.hp1 NA19090.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0007	a0002c0002 a0003c0005 a0004c0003 others(2): Show a0002c0002 a0003c0005 a0004c0003 a0005c0004 a0007c0011	a0002c0002t0001 a0003c0005t0006 a0004c0003t0001 others(2): Show a0002c0002t0001 a0003c0005t0006 a0004c0003t0001 a0005c0004t0003 a0007c0011t0001	a0002c0002t0001g0024 a0003c0005t0006g0121 a0003c0005t0006g0122 others(9): Show a0002c0002t0001g0024 a0003c0005t0006g0121 a0003c0005t0006g0122 a0004c0003t0001g0017 a0005c0004t0003g0068 a0005c0004t0003g0070 a0005c0004t0003g0131 a0005c0004t0003g0179 a0005c0004t0003g0205 a0005c0004t0003g0226 a0005c0004t0003g0304 a0007c0011t0001g0176	12	322	0.0373	8	c.247 others(27): Show c.247-35632_247-35631insCAGATAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228063174	A A	ATCTGTCT others(1): Show ATCTGTCTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02976.hp2 others(5): Show HG02615.hp1 HG02717.hp1 HG02976.hp2 HG03540.hp2 NA18946.hp1 NA18960.hp1 NA19081.hp2 NA21309.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0005 a0004c0003 others(1): Show a0002c0002 a0003c0005 a0004c0003 a0005c0004	a0002c0002t0001 a0003c0005t0006 a0004c0003t0001 others(2): Show a0002c0002t0001 a0003c0005t0006 a0004c0003t0001 a0004c0003t0002 a0005c0004t0003	a0002c0002t0001g0023 a0003c0005t0006g0115 a0004c0003t0001g0265 others(5): Show a0002c0002t0001g0023 a0003c0005t0006g0115 a0004c0003t0001g0265 a0004c0003t0001g0289 a0004c0003t0002g0067 a0004c0003t0002g0193 a0004c0003t0002g0229 a0005c0004t0003g0056	8	322	0.0248	8	c.247 others(27): Show c.247-35639_247-35632dupCAGACAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(1): Show ATCTCTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19005.hp1 NA19043.hp1 others(1): Show HG02922.hp2 NA19005.hp1 NA19043.hp1 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0021	a0001c0001 a0003c0006 a0005c0004 others(1): Show a0001c0001 a0003c0006 a0005c0004 a0021c0031	a0001c0001t0002 a0003c0006t0001 a0005c0004t0003 others(1): Show a0001c0001t0002 a0003c0006t0001 a0005c0004t0003 a0021c0031t0015	a0001c0001t0002g0319 a0003c0006t0001g0061 a0005c0004t0003g0245 others(1): Show a0001c0001t0002g0319 a0003c0006t0001g0061 a0005c0004t0003g0245 a0021c0031t0015g0266	4	322	0.0124	8	c.139 others(25): Show c.139-4672_139-4665dupGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228132843	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02559.hp1 others(15): Show HG01496.hp1 HG01884.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03239.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18968.hp2 NA18988.hp1 NA19091.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0014	a0001c0001 a0003c0005 a0003c0006 others(3): Show a0001c0001 a0003c0005 a0003c0006 a0004c0003 a0005c0004 a0014c0023	a0001c0001t0002 a0003c0005t0001 a0003c0005t0005 others(6): Show a0001c0001t0002 a0003c0005t0001 a0003c0005t0005 a0003c0005t0006 a0003c0005t0007 a0003c0006t0001 a0004c0003t0001 a0005c0004t0003 a0014c0023t0008	a0001c0001t0002g0161 a0001c0001t0002g0198 a0001c0001t0002g0241 others(15): Show a0001c0001t0002g0161 a0001c0001t0002g0198 a0001c0001t0002g0241 a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0129 a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0005t0006g0121 a0003c0005t0006g0122 a0003c0005t0007g0140 a0003c0006t0001g0097 a0004c0003t0001g0265 a0004c0003t0001g0289 a0004c0003t0001g0290 a0004c0003t0001g0293 a0005c0004t0003g0240 a0014c0023t0008g0224	18	322	0.0559	8	c.33- others(21): Show c.33-766_33-759dupTTTTTTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228133306	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 NA19043.hp2 HG02258.hp2 HG02896.hp2 NA19043.hp2	a0003 a0004 a0003 a0004	a0003c0006 a0004c0019 a0003c0006 a0004c0019	a0003c0006t0001 a0004c0019t0003 a0003c0006t0001 a0004c0019t0003	a0003c0006t0001g0098 a0003c0006t0001g0099 a0004c0019t0003g0111 a0003c0006t0001g0098 a0003c0006t0001g0099 a0004c0019t0003g0111	3	322	0.0093	8	c.33- others(23): Show c.33-1229_33-1222dupATTTATTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228134234	G G	GAGGGAGG others(1): Show GAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00642.hp1 others(40): Show HG00408.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01934.hp2 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02602.hp1 HG02683.hp2 HG03130.hp2 HG03239.hp1 HG03831.hp1 HG06807.hp2 NA18946.hp2 NA18956.hp1 NA18988.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19058.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0002c0002 a0003c0005 others(6): Show a0001c0001 a0002c0002 a0003c0005 a0004c0003 a0005c0004 a0005c0020 a0006c0007 a0007c0011 a0010c0009	a0001c0001t0002 a0002c0002t0001 a0002c0002t0013 others(10): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0013 a0003c0005t0001 a0003c0005t0007 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0005c0004t0003 a0005c0020t0003 a0006c0007t0001 a0007c0011t0001 a0010c0009t0003	a0001c0001t0002g0006 a0001c0001t0002g0153 a0001c0001t0002g0241 others(40): Show a0001c0001t0002g0006 a0001c0001t0002g0153 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0297 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0256 a0002c0002t0013g0145 a0003c0005t0001g0248 a0003c0005t0001g0286 a0003c0005t0007g0140 a0003c0005t0007g0144 a0004c0003t0001g0073 a0004c0003t0001g0133 a0004c0003t0001g0247 a0004c0003t0002g0250 a0004c0003t0003g0238 a0005c0004t0003g0020 a0005c0004t0003g0021 a0005c0004t0003g0068 a0005c0004t0003g0069 a0005c0004t0003g0070 a0005c0004t0003g0072 a0005c0004t0003g0113 a0005c0004t0003g0151 a0005c0004t0003g0179 a0005c0004t0003g0188 a0005c0004t0003g0231 a0005c0004t0003g0234 a0005c0004t0003g0235 a0005c0004t0003g0240 a0005c0004t0003g0243 a0005c0004t0003g0244 a0005c0004t0003g0245 a0005c0004t0003g0253 a0005c0020t0003g0142 a0006c0007t0001g0134 a0006c0007t0001g0135 a0007c0011t0001g0176 a0010c0009t0003g0154 a0010c0009t0003g0251	43	322	0.1335	8	c.33- others(23): Show c.33-2150_33-2149insTCCTCCCT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154481	A A	ACTCTCTC others(1): Show ACTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01099.hp1 others(3): Show HG00099.hp2 HG00639.hp2 HG01099.hp1 HG01891.hp1 HG02486.hp2 NA18967.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0003 a0005c0004 a0002c0002 a0004c0003 a0005c0004	a0002c0002t0001 a0004c0003t0001 a0005c0004t0003 a0002c0002t0001 a0004c0003t0001 a0005c0004t0003	a0002c0002t0001g0268 a0004c0003t0001g0280 a0004c0003t0001g0281 others(3): Show a0002c0002t0001g0268 a0004c0003t0001g0280 a0004c0003t0001g0281 a0004c0003t0001g0284 a0004c0003t0001g0303 a0005c0004t0003g0279	6	322	0.0186	8	c.33- others(25): Show c.33-22404_33-22397dupAGAGAGAG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154512	C C	CTCTATAT others(1): Show CTCTATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03710.hp1 NA18939.hp2 others(1): Show HG01261.hp1 HG03710.hp1 NA18939.hp2 NA19012.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0024 others(1): Show a0001c0001 a0002c0002 a0003c0024 a0005c0004	a0001c0001t0002 a0002c0002t0001 a0003c0024t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0024t0001 a0005c0004t0003	a0001c0001t0002g0196 a0002c0002t0001g0317 a0003c0024t0001g0288 others(1): Show a0001c0001t0002g0196 a0002c0002t0001g0317 a0003c0024t0001g0288 a0005c0004t0003g0226	4	322	0.0124	8	c.33- others(25): Show c.33-22428_33-22427insTATATAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154512	C C	CTCTCTAT others(1): Show CTCTCTATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG02257.hp2 others(1): Show HG00738.hp2 HG00741.hp1 HG02257.hp2 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0002 a0002c0002t0001 a0004c0003t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0004c0003t0001 a0004c0003t0002	a0001c0001t0002g0207 a0002c0002t0001g0199 a0004c0003t0001g0282 others(1): Show a0001c0001t0002g0207 a0002c0002t0001g0199 a0004c0003t0001g0282 a0004c0003t0002g0229	4	322	0.0124	8	c.33- others(25): Show c.33-22428_33-22427insTATAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(1): Show TTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01069.hp1 others(29): Show HG00438.hp1 HG00639.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01257.hp2 HG01928.hp2 HG02129.hp1 HG02129.hp2 HG02293.hp1 HG02572.hp1 HG03831.hp1 NA18906.hp2 NA18947.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19080.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0044 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0075 a0001c0001t0001g0106 a0001c0001t0001g0234 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0054 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0004g0020	32	390	0.0821	8	c.-31 others(19): Show c.-3142_-3135dupTATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113486862	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp1 NA18957.hp1 others(2): Show NA18945.hp2 NA18946.hp1 NA18957.hp1 NA18977.hp2 NA19080.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0167 a0003c0005t0004g0168 a0003c0005t0004g0169 others(2): Show a0003c0005t0004g0167 a0003c0005t0004g0168 a0003c0005t0004g0169 a0003c0005t0004g0174 a0003c0005t0004g0175	5	364	0.0137	8	c.611 others(25): Show c.611+2075_611+2082dupATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113491624	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01070.hp1 others(40): Show HG00639.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01175.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02615.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp2 HG03834.hp2 HG03927.hp1 NA18612.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18999.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0002c0008 others(1): Show a0001c0002 a0002c0003 a0002c0008 a0005c0009	a0001c0002t0003 a0001c0002t0014 a0002c0003t0005 others(3): Show a0001c0002t0003 a0001c0002t0014 a0002c0003t0005 a0002c0003t0009 a0002c0008t0012 a0005c0009t0013	a0001c0002t0003g0007 a0001c0002t0003g0248 a0001c0002t0003g0249 others(39): Show a0001c0002t0003g0007 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0252 a0001c0002t0003g0266 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0283 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0003g0312 a0001c0002t0014g0306 a0002c0003t0005g0334 a0002c0003t0005g0336 a0002c0003t0005g0347 a0002c0003t0005g0348 a0002c0003t0005g0352 a0002c0003t0005g0354 a0002c0003t0009g0349 a0002c0003t0009g0351 a0002c0008t0012g0178 a0005c0009t0013g0242	43	364	0.1181	8	c.492 others(25): Show c.492+1574_492+1581dupTTTTTTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	6/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479172	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01433.hp1 others(15): Show HG01167.hp1 HG01169.hp2 HG01433.hp1 HG02109.hp1 HG02165.hp1 HG02970.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18947.hp1 NA18947.hp2 NA18962.hp2 NA18968.hp1 NA18982.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0044 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0136 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211	18	398	0.0452	8	c.98- others(21): Show c.98-367_98-360dupAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479307	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01167.hp1 HG01169.hp2 others(15): Show HG00621.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01433.hp1 HG02015.hp2 HG02083.hp2 HG03491.hp2 HG03831.hp2 NA18947.hp2 NA18952.hp2 NA18972.hp1 NA18982.hp1 NA18993.hp1 NA19056.hp2 NA19058.hp1 NA19087.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 others(12): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0260	18	398	0.0452	8	c.98- others(21): Show c.98-231_98-224dupGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47435326	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG03486.hp1 HG02615.hp1 HG02965.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0120 a0004c0004t0002g0122 a0004c0004t0002g0123	3	216	0.0139	8	c.878 others(25): Show c.878-4976_878-4969dupTGTGTGTG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47496810	A A	ATGTTTGT others(1): Show ATGTTTGTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG03654.hp2 others(4): Show HG02257.hp1 HG02809.hp2 HG03654.hp2 HG03831.hp2 NA18983.hp2 NA19056.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0194 others(4): Show a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0002g0049 a0001c0001t0002g0130 a0001c0001t0002g0138 a0001c0001t0002g0185	7	216	0.0324	8	c.109 others(29): Show c.1097+56296_1097+56303dupTTGTTTGT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar

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