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
SPDYE2_chr7_102546226_102568538	102547901	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0015 a0001c0017t0001g0015	1	164	0.0061	-10	c.-38 others(21): Show c.-3808_-3799delTTTTTTTTTT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3324		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102549251	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	164	0.0061	-10	c.-24 others(21): Show c.-2458_-2449delGTGTGTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1974		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102555232	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02280.hp2 HG02004.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0002g0121 a0001c0001t0001g0122 a0001c0001t0002g0121	2	164	0.0122	-10	c.380 others(25): Show c.380-649_380-640delAAAAAAAAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102555251	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01070.hp2 others(13): Show HG00280.hp1 HG00673.hp1 HG01070.hp2 HG01123.hp2 HG01169.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG02056.hp2 HG02071.hp1 HG03041.hp1 HG03654.hp2 NA19009.hp1 NA19030.hp1 NA19054.hp2 NA19091.hp2	a0001 a0011 a0014 others(2): Show a0001 a0011 a0014 a0016 a0019	a0001c0001 a0001c0007 a0001c0011 others(5): Show a0001c0001 a0001c0007 a0001c0011 a0001c0032 a0011c0019 a0014c0029 a0016c0030 a0019c0021	a0001c0001t0002 a0001c0001t0022 a0001c0007t0012 others(7): Show a0001c0001t0002 a0001c0001t0022 a0001c0007t0012 a0001c0007t0018 a0001c0011t0005 a0001c0032t0005 a0011c0019t0002 a0014c0029t0002 a0016c0030t0003 a0019c0021t0003	a0001c0001t0002g0008 a0001c0001t0002g0077 a0001c0001t0002g0079 others(12): Show a0001c0001t0002g0008 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0022g0063 a0001c0007t0012g0101 a0001c0007t0012g0102 a0001c0007t0018g0103 a0001c0011t0005g0062 a0001c0032t0005g0065 a0011c0019t0002g0081 a0014c0029t0002g0044 a0016c0030t0003g0029 a0019c0021t0003g0037	16	164	0.0976	-10	c.380 others(25): Show c.380-646_380-637delAAAAAAAGAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102557345	TTTTTTTT others(3): Show TTTTTTTTGTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0003 a0019c0021t0003	a0019c0021t0003g0037 a0019c0021t0003g0037	1	164	0.0061	-10	c.669 others(25): Show c.669+125_669+134delTTTTTTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE5_chr7_75487320_75509316	75491702	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp2 others(20): Show HG00099.hp2 HG00280.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02074.hp2 HG02698.hp2 HG02717.hp2 HG03486.hp2 HG03491.hp1 NA18522.hp2 NA20752.hp1 NA20905.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0017 a0004c0006t0002g0018 a0004c0006t0002g0023 others(10): Show a0004c0006t0002g0017 a0004c0006t0002g0018 a0004c0006t0002g0023 a0004c0006t0002g0040 a0004c0006t0002g0041 a0004c0006t0002g0126 a0004c0006t0002g0128 a0004c0006t0002g0129 a0004c0006t0002g0130 a0004c0006t0002g0131 a0004c0006t0002g0132 a0004c0006t0002g0133 a0004c0006t0002g0134	23	408	0.0564	-10	c.-11 others(21): Show c.-1160_-1151delTTTTTTTTTT	SPDYE5	ENSG00000170092.15	transcript	ENST00000625065.4	protein_coding		617		chr7	TogoVar
SPDYE9_chr7_73070972_73091038	73083734	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0098 a0002c0002t0003g0098	1	164	0.0061	-10	c.130 others(25): Show c.130+365_130+374delAAAAAAAAAA	SPDYE9	ENSG00000262461.7	transcript	ENST00000575125.6	protein_coding	2/7			chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270234	TATATATA others(3): Show TATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0035 a0001c0010t0035	a0001c0010t0035g0067 a0001c0010t0035g0067	1	326	0.0031	-10	c.-89 others(19): Show c.-890_-881delATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		596		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02717.hp1 others(7): Show HG01243.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(7): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0015g0012 a0001c0001t0015g0013	10	326	0.0307	-10	c.-38 others(29): Show c.-38+11832_-38+11841delTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24303844	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG02486.hp1 others(12): Show HG00673.hp1 HG01109.hp1 HG02486.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp2 NA18941.hp1 NA18948.hp2 NA18955.hp1 NA18973.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19074.hp2 NA19079.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0011 a0001c0001 a0001c0002 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0002 a0009c0011t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0262 a0001c0001t0001g0298 a0001c0001t0001g0319 a0001c0001t0002g0061 a0001c0001t0013g0058 a0001c0002t0002g0106 a0009c0011t0001g0055	15	326	0.0460	-10	c.153 others(27): Show c.153+1493_153+1502delGTGTGTGTGT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02965.hp1 others(1): Show HG02572.hp2 HG02717.hp1 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0252 a0001c0001t0001g0275 a0001c0001t0015g0012 others(1): Show a0001c0001t0001g0252 a0001c0001t0001g0275 a0001c0001t0015g0012 a0001c0001t0015g0013	4	326	0.0123	-10	c.308 others(31): Show c.3087+14503_3087+14512delTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24402097	GCTTCCCC others(3): Show GCTTCCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp2 HG01884.hp2 others(27): Show HG00438.hp1 HG01070.hp2 HG01884.hp2 HG02080.hp1 HG02572.hp2 HG02717.hp1 HG02738.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA19000.hp1 NA19005.hp2 NA19070.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0010 a0007c0006 a0001c0001 a0001c0010 a0007c0006	a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 others(5): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0034 a0001c0001t0037 a0001c0010t0035 a0007c0006t0020	a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0009g0084 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0016g0026 a0001c0001t0016g0027 a0001c0001t0034g0018 a0001c0001t0037g0034 a0001c0010t0035g0067 a0007c0006t0020g0069	30	326	0.0920	-10	c.308 others(29): Show c.3088-9449_3088-9440delTTCCCCTTCC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24421456	AGCAAGGA others(3): Show AGCAAGGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	326	0.0031	-10	c.68 others(21): Show c.6834_*6843delGCAAGGATGG	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		3719		chr22	TogoVar
SPECC1_chr17_20004359_20324026	20093756	AGTCTCCC others(3): Show AGTCTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(136): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18951.hp2 NA18957.hp2 NA18966.hp1 NA18968.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18998.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0003c0004 a0003c0007 a0003c0012 a0003c0013 a0004c0005 a0004c0015	a0001c0001t0041 a0001c0003t0007 a0001c0003t0012 others(58): Show a0001c0001t0041 a0001c0003t0007 a0001c0003t0012 a0001c0003t0017 a0001c0003t0018 a0001c0003t0021 a0001c0003t0033 a0001c0003t0035 a0001c0003t0036 a0001c0003t0039 a0001c0003t0040 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0003t0051 a0001c0003t0055 a0001c0003t0060 a0001c0003t0062 a0001c0003t0063 a0001c0003t0075 a0001c0003t0107 a0001c0006t0052 a0001c0006t0061 a0002c0002t0001 a0002c0002t0005 a0002c0002t0020 a0002c0002t0037 a0002c0002t0068 a0002c0002t0069 a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 a0003c0004t0019 a0003c0004t0029 a0003c0004t0034 a0003c0004t0042 a0003c0004t0043 a0003c0004t0054 a0003c0004t0076 a0003c0004t0109 a0003c0004t0110 a0003c0004t0113 a0003c0007t0003 a0003c0007t0011 a0003c0007t0016 a0003c0012t0108 a0003c0012t0111 a0003c0013t0112 a0004c0005t0008 a0004c0005t0009 a0004c0005t0023 a0004c0005t0038 a0004c0005t0046 a0004c0005t0056 a0004c0005t0057 a0004c0005t0058 a0004c0005t0064 a0004c0005t0065 a0004c0005t0066 a0004c0005t0067 a0004c0015t0059	a0001c0001t0041g0024 a0001c0003t0007g0057 a0001c0003t0007g0059 others(136): Show a0001c0001t0041g0024 a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 a0001c0003t0012g0058 a0001c0003t0012g0063 a0001c0003t0012g0064 a0001c0003t0017g0060 a0001c0003t0017g0208 a0001c0003t0018g0061 a0001c0003t0018g0213 a0001c0003t0021g0194 a0001c0003t0021g0198 a0001c0003t0033g0146 a0001c0003t0033g0164 a0001c0003t0035g0243 a0001c0003t0036g0214 a0001c0003t0039g0207 a0001c0003t0040g0206 a0001c0003t0048g0056 a0001c0003t0049g0011 a0001c0003t0050g0209 a0001c0003t0051g0216 a0001c0003t0055g0196 a0001c0003t0060g0195 a0001c0003t0062g0242 a0001c0003t0063g0197 a0001c0003t0075g0147 a0001c0003t0107g0218 a0001c0006t0052g0014 a0001c0006t0061g0009 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0005g0001 a0002c0002t0005g0043 a0002c0002t0005g0044 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0005g0049 a0002c0002t0005g0050 a0002c0002t0005g0052 a0002c0002t0020g0019 a0002c0002t0020g0055 a0002c0002t0037g0010 a0002c0002t0068g0048 a0002c0002t0069g0051 a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0220 a0003c0004t0011g0077 a0003c0004t0011g0078 a0003c0004t0011g0092 a0003c0004t0016g0219 a0003c0004t0019g0211 a0003c0004t0019g0215 a0003c0004t0029g0191 a0003c0004t0029g0192 a0003c0004t0034g0082 a0003c0004t0034g0094 a0003c0004t0042g0210 a0003c0004t0043g0203 a0003c0004t0054g0217 a0003c0004t0076g0190 a0003c0004t0109g0085 a0003c0004t0110g0083 a0003c0004t0113g0087 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0007t0011g0099 a0003c0007t0016g0073 a0003c0007t0016g0081 a0003c0012t0108g0100 a0003c0012t0111g0098 a0003c0013t0112g0097 a0004c0005t0008g0227 a0004c0005t0008g0228 a0004c0005t0008g0229 a0004c0005t0008g0233 a0004c0005t0008g0235 a0004c0005t0009g0226 a0004c0005t0009g0232 a0004c0005t0009g0240 a0004c0005t0009g0241 a0004c0005t0023g0225 a0004c0005t0023g0234 a0004c0005t0038g0237 a0004c0005t0046g0202 a0004c0005t0056g0236 a0004c0005t0057g0223 a0004c0005t0058g0239 a0004c0005t0064g0222 a0004c0005t0065g0231 a0004c0005t0066g0224 a0004c0005t0067g0238 a0004c0015t0059g0230	139	250	0.5560	-10	c.-21 others(27): Show c.-21-2871_-21-2862delTCCCTCTGTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20116803	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01099.hp2 others(34): Show HG00140.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG02723.hp1 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18968.hp2 NA19043.hp1 NA19066.hp1 NA19080.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0003c0007 others(2): Show a0001c0003 a0003c0004 a0003c0007 a0003c0012 a0003c0013	a0001c0003t0036 a0003c0004t0003 a0003c0004t0011 others(15): Show a0001c0003t0036 a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 a0003c0004t0019 a0003c0004t0029 a0003c0004t0034 a0003c0004t0042 a0003c0004t0054 a0003c0004t0076 a0003c0004t0109 a0003c0004t0110 a0003c0004t0113 a0003c0007t0003 a0003c0007t0011 a0003c0007t0016 a0003c0012t0108 a0003c0013t0112	a0001c0003t0036g0214 a0003c0004t0003g0008 a0003c0004t0003g0072 others(34): Show a0001c0003t0036g0214 a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0220 a0003c0004t0011g0077 a0003c0004t0011g0078 a0003c0004t0011g0092 a0003c0004t0016g0219 a0003c0004t0019g0211 a0003c0004t0019g0215 a0003c0004t0029g0191 a0003c0004t0029g0192 a0003c0004t0034g0082 a0003c0004t0034g0094 a0003c0004t0042g0210 a0003c0004t0054g0217 a0003c0004t0076g0190 a0003c0004t0109g0085 a0003c0004t0110g0083 a0003c0004t0113g0087 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0091 a0003c0007t0011g0099 a0003c0007t0016g0073 a0003c0007t0016g0081 a0003c0012t0108g0100 a0003c0013t0112g0097	37	250	0.1480	-10	c.283 others(27): Show c.283+6262_283+6271delTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298972	TATGTAGA others(3): Show TATGTAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02717.hp2 others(3): Show HG02109.hp2 HG02145.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 others(2): Show a0001c0006t0022 a0001c0006t0044 a0001c0006t0045 a0001c0006t0047 a0001c0006t0101	a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 others(3): Show a0001c0006t0022g0068 a0001c0006t0022g0070 a0001c0006t0044g0069 a0001c0006t0045g0071 a0001c0006t0047g0067 a0001c0006t0101g0160	6	250	0.0240	-10	c.305 others(29): Show c.3057+1897_3057+1906delTGTAGAGAGA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20299555	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	250	0.0040	-10	c.305 others(29): Show c.3057+2493_3057+2502delAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20304117	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0058 a0001c0003t0012g0058	1	250	0.0040	-10	c.305 others(29): Show c.3058-1889_3058-1880delAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF1_chr20_3772504_3786448	3774054	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0005 a0001c0001t0001g0015	2	418	0.0048	-10	c.41 others(21): Show c.4148_*4157delTTTTTTTTTT	SPEF1	ENSG00000101222.12	transcript	ENST00000379756.3	protein_coding		3449		chr20	TogoVar
SPEF2_chr5_35612863_35819611	35661254	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG01168.hp2 others(19): Show HG00280.hp2 HG01071.hp1 HG01168.hp2 HG01433.hp2 HG02056.hp2 HG02148.hp2 HG02559.hp2 HG02895.hp1 HG02897.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18972.hp2 NA18975.hp2 NA19009.hp1 NA19065.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0004 a0004c0005 a0001c0003 a0003c0004 a0004c0005	a0001c0003t0001 a0003c0004t0001 a0004c0005t0001 a0001c0003t0001 a0003c0004t0001 a0004c0005t0001	a0001c0003t0001g0003 a0001c0003t0001g0035 a0001c0003t0001g0078 others(19): Show a0001c0003t0001g0003 a0001c0003t0001g0035 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0177 a0003c0004t0001g0246 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0111 a0004c0005t0001g0115 a0004c0005t0001g0116 a0004c0005t0001g0117 a0004c0005t0001g0118 a0004c0005t0001g0119 a0004c0005t0001g0120 a0004c0005t0001g0125 a0004c0005t0001g0129 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0248	22	268	0.0821	-10	c.116 others(29): Show c.1167+2083_1167+2092delATATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35734700	CTTTTTTT others(3): Show CTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18522.hp1 NA18946.hp2 others(2): Show HG01070.hp2 NA18522.hp1 NA18946.hp2 NA18963.hp1 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0034	a0001c0003 a0002c0001 a0005c0006 others(2): Show a0001c0003 a0002c0001 a0005c0006 a0007c0016 a0034c0054	a0001c0003t0001 a0002c0001t0001 a0005c0006t0001 others(2): Show a0001c0003t0001 a0002c0001t0001 a0005c0006t0001 a0007c0016t0001 a0034c0054t0001	a0001c0003t0001g0036 a0002c0001t0001g0215 a0005c0006t0001g0180 others(2): Show a0001c0003t0001g0036 a0002c0001t0001g0215 a0005c0006t0001g0180 a0007c0016t0001g0156 a0034c0054t0001g0185	5	268	0.0187	-10	c.306 others(29): Show c.3064-5210_3064-5201delCTTTTTTTTT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	21/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEG_chr2_219429843_219498629	219463392	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01081.hp1 others(6): Show HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01109.hp2 HG02622.hp1 HG02818.hp1 HG04204.hp2 HG04228.hp1 NA20752.hp1	a0001 a0002 a0024 others(1): Show a0001 a0002 a0024 a0030	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0024c0033 a0030c0034	a0001c0001t0001 a0001c0002t0001 a0002c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0002 a0024c0033t0002 a0030c0034t0001	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0002t0001g0104 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0002t0001g0104 a0001c0002t0001g0192 a0002c0004t0002g0171 a0002c0004t0002g0190 a0024c0033t0002g0025 a0030c0034t0001g0026	9	304	0.0296	-10	c.270 others(29): Show c.2706-1012_2706-1003delTTTTTTTTTT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	8/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEN_chr1_15842707_15945456	15844551	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0115 a0004c0006t0001g0115	1	304	0.0033	-10	c.-35 others(21): Show c.-3516_-3507delTTTTTTTTTT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding		3155		chr1	TogoVar
SPEN_chr1_15842707_15945456	15860378	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01109.hp2 others(8): Show HG01070.hp1 HG01071.hp2 HG01109.hp2 HG02486.hp2 HG02647.hp2 HG02976.hp2 HG03130.hp1 HG03579.hp2 HG06807.hp2 NA19240.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0006 a0001c0007 a0004c0006	a0001c0007t0001 a0004c0006t0001 a0001c0007t0001 a0004c0006t0001	a0001c0007t0001g0293 a0001c0007t0001g0294 a0001c0007t0001g0295 others(8): Show a0001c0007t0001g0293 a0001c0007t0001g0294 a0001c0007t0001g0295 a0001c0007t0001g0296 a0004c0006t0001g0002 a0004c0006t0001g0111 a0004c0006t0001g0112 a0004c0006t0001g0113 a0004c0006t0001g0115 a0004c0006t0001g0116 a0004c0006t0001g0117	11	304	0.0362	-10	c.83+ others(27): Show c.83+12259_83+12268delGTGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15860442	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	304	0.0033	-10	c.83+ others(27): Show c.83+12317_83+12326delGTGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15892012	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0022 a0022	a0022c0032 a0022c0032	a0022c0032t0001 a0022c0032t0001	a0022c0032t0001g0087 a0022c0032t0001g0087	1	304	0.0033	-10	c.881 others(29): Show c.881+15350_881+15359delTTTTTTTTTT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15898173	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01256.hp2 others(7): Show HG01123.hp2 HG01192.hp2 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01943.hp1 HG01975.hp1 HG02273.hp1 HG02293.hp2 HG02615.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0027 a0003c0003 a0014c0039 a0001c0027 a0003c0003 a0014c0039	a0001c0027t0001 a0003c0003t0001 a0014c0039t0001 a0001c0027t0001 a0003c0003t0001 a0014c0039t0001	a0001c0027t0001g0076 a0003c0003t0001g0123 a0003c0003t0001g0126 others(7): Show a0001c0027t0001g0076 a0003c0003t0001g0123 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0014c0039t0001g0125	10	304	0.0329	-10	c.882 others(29): Show c.882-11120_882-11111delGTGTGTGTGT	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEN_chr1_15842707_15945456	15923479	CTTGAGTT others(3): Show CTTGAGTTCAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0189 a0004c0009t0001g0189	1	304	0.0033	-10	c.185 others(29): Show c.1850+1131_1850+1140delTTGAGTTCAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	10/14			chr1	TogoVar
SPG11_chr15_44557696_44668662	44609895	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 HG02630.hp1 HG03540.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0027 a0001c0001 a0015c0027	a0001c0001t0001 a0015c0027t0001 a0001c0001t0001 a0015c0027t0001	a0001c0001t0001g0081 a0015c0027t0001g0140 a0001c0001t0001g0081 a0015c0027t0001g0140	2	190	0.0105	-10	c.329 others(27): Show c.3291+935_3291+944delAAAAAAAAAA	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	18/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44611091	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02257.hp2 HG02451.hp2 others(6): Show HG00621.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02922.hp1 HG03017.hp1 HG03453.hp2 HG03516.hp1 NA18955.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 others(6): Show a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 a0005c0005t0001g0031 a0005c0005t0001g0032 a0005c0005t0001g0033 a0005c0005t0001g0146 a0005c0005t0001g0147 a0005c0005t0001g0148	9	190	0.0474	-10	c.314 others(27): Show c.3146-116_3146-107delTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44633324	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0151 a0008c0007t0001g0151	1	190	0.0053	-10	c.173 others(27): Show c.1735+171_1735+180delTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44662650	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01496.hp1 HG02922.hp1 others(9): Show HG00621.hp1 HG01496.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 NA18954.hp2 NA18955.hp2 NA20129.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 others(9): Show a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0035 a0005c0005t0001g0031 a0005c0005t0001g0032 a0005c0005t0001g0033 a0005c0005t0001g0034	12	190	0.0632	-10	c.257 others(25): Show c.257+731_257+740delTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	1/39			chr15	TogoVar
SPG21_chr15_64958022_64994914	64965202	TCATTTCT others(3): Show TCATTTCTACA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	352	0.0028	-10	c.810 others(25): Show c.810+108_810+117delTGTAGAAATG	SPG21	ENSG00000090487.11	transcript	ENST00000204566.7	protein_coding	8/8			chr15	TogoVar
SPG21_chr15_64958022_64994914	64986680	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01168.hp2 others(4): Show HG00639.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG02572.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0072 a0001c0001t0003g0086 a0001c0001t0006g0030 others(3): Show a0001c0001t0003g0072 a0001c0001t0003g0086 a0001c0001t0006g0030 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0006g0085	7	352	0.0199	-10	c.-25 others(27): Show c.-25+2975_-25+2984delGTTTTGTTTT	SPG21	ENSG00000090487.11	transcript	ENST00000204566.7	protein_coding	1/8			chr15	TogoVar
SPG7_chr16_89503403_89562766	89536561	GCGGGTGA others(3): Show GCGGGTGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	358	0.0028	-10	c.132 others(29): Show c.1324+3927_1324+3936delGGGTGAGGTC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89543646	ATTCTTTT others(3): Show ATTCTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00673.hp2 others(34): Show HG00323.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01255.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02071.hp1 HG02132.hp2 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02735.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18940.hp1 NA18942.hp1 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA18983.hp1 NA18984.hp2 NA18995.hp1 NA19077.hp2 NA19085.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0015 a0001c0001 a0002c0002 a0002c0015	a0001c0001t0002 a0001c0001t0007 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0007 a0002c0002t0002 a0002c0002t0006 a0002c0015t0002	a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0030 others(33): Show a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0007g0011 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0073 a0002c0002t0002g0168 a0002c0002t0006g0001 a0002c0015t0002g0040	37	358	0.1034	-10	c.132 others(27): Show c.1325-999_1325-990delCTTTTTTTTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHK2_chr19_48614506_48635405	48616643	CCAGCACA others(3): Show CCAGCACAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02451.hp2 NA19005.hp1 HG01981.hp2 HG02451.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0105 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0105	3	398	0.0075	-10	c.-30 others(21): Show c.-3013_-3004delCAGCACAGCA	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228000633	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp1 others(5): Show HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02809.hp2 HG06807.hp1 NA18522.hp2	a0003 a0003	a0003c0005 a0003c0027 a0003c0005 a0003c0027	a0003c0005t0005 a0003c0027t0005 a0003c0005t0005 a0003c0027t0005	a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0005t0005g0090 others(5): Show a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0005t0005g0090 a0003c0005t0005g0104 a0003c0005t0005g0110 a0003c0005t0005g0300 a0003c0005t0005g0301 a0003c0027t0005g0105	8	322	0.0248	-10	c.444 others(29): Show c.4449-4949_4449-4940delATTTTATTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	7/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228001745	GTGTGTGA others(3): Show GTGTGTGATGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0177 a0003c0005t0007g0177	1	322	0.0031	-10	c.444 others(29): Show c.4449-6061_4449-6052delACATCACACA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	7/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228012179	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00609.hp1 others(55): Show HG00099.hp1 HG00558.hp1 HG00609.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp2 HG01433.hp1 HG01928.hp2 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18978.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18998.hp1 NA19001.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0016 a0018 a0001 a0016 a0018	a0001c0001 a0016c0028 a0018c0029 a0001c0001 a0016c0028 a0018c0029	a0001c0001t0002 a0016c0028t0003 a0018c0029t0002 a0001c0001t0002 a0016c0028t0003 a0018c0029t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(55): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0016c0028t0003g0252 a0018c0029t0002g0257	58	322	0.1801	-10	c.444 others(29): Show c.4448+4217_4448+4226delCTTTTTTTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	7/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228028600	TTTAGATA others(3): Show TTTAGATATAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0075 a0003c0006t0001g0075	1	322	0.0031	-10	c.247 others(27): Show c.247-1067_247-1058delGTATATCTAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228080707	CAAAATAA others(3): Show CAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01243.hp1 others(14): Show HG00408.hp2 HG00609.hp2 HG01243.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02683.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03209.hp1 HG03490.hp2 HG04184.hp1 NA18906.hp1 NA19080.hp2 NA19081.hp1 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0001 a0003c0005 a0004c0003 others(3): Show a0001c0001 a0003c0005 a0004c0003 a0005c0004 a0005c0020 a0010c0009	a0001c0001t0002 a0003c0005t0001 a0003c0005t0007 others(5): Show a0001c0001t0002 a0003c0005t0001 a0003c0005t0007 a0004c0003t0003 a0005c0004t0003 a0005c0004t0016 a0005c0020t0003 a0010c0009t0003	a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0263 others(14): Show a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0263 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0232 a0003c0005t0007g0144 a0003c0005t0007g0174 a0004c0003t0003g0238 a0005c0004t0003g0113 a0005c0004t0003g0253 a0005c0004t0016g0060 a0005c0020t0003g0142 a0010c0009t0003g0154 a0010c0009t0003g0251	17	322	0.0528	-10	c.246 others(29): Show c.246+28115_246+28124delATTTTATTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228096630	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG01109.hp2 others(39): Show HG00609.hp1 HG00735.hp2 HG01109.hp2 HG01167.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp1 HG04184.hp2 NA18747.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp1 NA18978.hp2 NA18986.hp2 NA18992.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0018	a0001c0001 a0002c0002 a0005c0004 others(1): Show a0001c0001 a0002c0002 a0005c0004 a0018c0029	a0001c0001t0002 a0002c0002t0001 a0005c0004t0003 others(1): Show a0001c0001t0002 a0002c0002t0001 a0005c0004t0003 a0018c0029t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(39): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0092 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0302 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0002c0002t0001g0276 a0005c0004t0003g0044 a0005c0004t0003g0052 a0018c0029t0002g0257	42	322	0.1304	-10	c.246 others(29): Show c.246+12192_246+12201delCACACACACA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	ATCTCTCT others(3): Show ATCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18978.hp1 NA18967.hp1 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0274 a0002c0002t0001g0268 a0001c0001t0002g0274 a0002c0002t0001g0268	2	322	0.0062	-10	c.139 others(27): Show c.139-4674_139-4665delGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154481	ACTCTCTC others(3): Show ACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0012 a0015c0017t0012	a0015c0017t0012g0292 a0015c0017t0012g0292	1	322	0.0031	-10	c.33- others(27): Show c.33-22406_33-22397delAGAGAGAGAG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228154532	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0067 a0004c0003t0002g0067	1	322	0.0031	-10	c.33- others(27): Show c.33-22457_33-22448delAAAAAAAAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228176990	AAGAAAAA others(3): Show AAGAAAAAACT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG04199.hp1 others(3): Show HG01074.hp1 HG01358.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0003 a0001c0001t0002 a0005c0004t0003	a0001c0001t0002g0228 a0001c0001t0002g0296 a0001c0001t0002g0297 others(3): Show a0001c0001t0002g0228 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0005c0004t0003g0227	6	322	0.0186	-10	c.32+ others(25): Show c.32+4567_32+4576delAGTTTTTTCT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47362570	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	390	0.0026	-10	c.143 others(27): Show c.143-2540_143-2531delAAAAAAAAAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	2/4			chr11	TogoVar
SPI1_chr11_47349860_47383547	47366822	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp1 others(72): Show HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18960.hp1 NA18964.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp1 NA18993.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0044 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0215 a0001c0001t0002g0229 a0001c0001t0002g0251 a0001c0003t0001g0250	75	390	0.1923	-10	c.143 others(27): Show c.143-6792_143-6783delCTTTTCTTTT	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	2/4			chr11	TogoVar
SPICE1_chr3_113437718_113520156	113491624	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0011 a0002c0003t0021g0011	1	364	0.0028	-10	c.492 others(27): Show c.492+1572_492+1581delTTTTTTTTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	6/17			chr3	TogoVar

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