Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPDYE2B_chr7_102645319_102667625	102654324	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03098.hp1 NA19091.hp1 others(1): Show HG02165.hp2 HG03098.hp1 NA19091.hp1 NA20805.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0004 a0009c0022 a0001c0001 a0003c0004 a0009c0022	a0001c0001t0003 a0003c0004t0005 a0009c0022t0022 a0001c0001t0003 a0003c0004t0005 a0009c0022t0022	a0001c0001t0003g0079 a0001c0001t0003g0081 a0003c0004t0005g0044 others(1): Show a0001c0001t0003g0079 a0001c0001t0003g0081 a0003c0004t0005g0044 a0009c0022t0022g0020	4	14	0.2857	15	c.380 others(30): Show c.380-652_380-638dupAAAAAAAAAAAAAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18957.hp1 HG02735.hp2 NA18957.hp1	a0003 a0011 a0003 a0011	a0003c0027 a0011c0015 a0003c0027 a0011c0015	a0003c0027t0003 a0011c0015t0003 a0003c0027t0003 a0011c0015t0003	a0003c0027t0003g0109 a0011c0015t0003g0037 a0003c0027t0003g0109 a0011c0015t0003g0037	2	6	0.3333	15	c.-36 others(26): Show c.-3637_-3636insTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24279570	A A	AATTATTA others(8): Show AATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0019 a0006c0006t0019	a0006c0006t0019g0069 a0006c0006t0019g0069	1	273	0.0037	15	c.-38 others(32): Show c.-38+2771_-38+2785dupATTATTATTATTATT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0026 a0001c0001t0015g0026	1	101	0.0099	15	c.-38 others(34): Show c.-38+11827_-38+11841dupTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp2 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0268 a0001c0001t0001g0050 a0001c0001t0001g0268	2	6	0.3333	15	c.308 others(36): Show c.3087+14498_3087+14512dupTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021494	C C	CTCCTTAT others(8): Show CTCCTTATGGACTTGT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	248	0.0040	15	c.-22 others(34): Show c.-22+12071_-22+12085dupTCCTTATGGACTTGT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298921	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0188 a0001c0001t0087g0188	1	223	0.0045	15	c.305 others(34): Show c.3057+1844_3057+1845insGAGAGAGAGAGAGAG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14			chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317258	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG03486.hp1 HG02015.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0084 a0001c0001t0083 a0001c0001t0084	a0001c0001t0083g0199 a0001c0001t0084g0161 a0001c0001t0083g0199 a0001c0001t0084g0161	2	242	0.0083	15	c.31 others(26): Show c.3193_*3194insTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3194		chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	AATTTTTT others(8): Show AATTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0046 a0001c0006t0046	a0001c0006t0046g0071 a0001c0006t0046g0071	1	29	0.0345	15	c.31 others(26): Show c.3194_*3195insATTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3195		chr17	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01081.hp1 others(12): Show HG00408.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01993.hp1 HG02129.hp2 HG02155.hp1 HG02523.hp1 HG02818.hp1 NA18942.hp2 NA18984.hp1 NA19004.hp1 NA19087.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0077 a0001c0001t0082 others(2): Show a0001c0001t0004 a0001c0001t0077 a0001c0001t0082 a0001c0001t0088 a0001c0001t0095	a0001c0001t0004g0004 a0001c0001t0004g0109 a0001c0001t0004g0112 others(12): Show a0001c0001t0004g0004 a0001c0001t0004g0109 a0001c0001t0004g0112 a0001c0001t0004g0137 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0159 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0249 a0001c0001t0077g0138 a0001c0001t0082g0141 a0001c0001t0088g0183 a0001c0001t0095g0005	15	43	0.3488	15	c.32 others(26): Show c.3201_*3215dupTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01192.hp1 others(4): Show HG00099.hp1 HG00741.hp1 HG01192.hp1 HG02145.hp1 HG02293.hp1 HG03688.hp1 HG04184.hp1	a0001 a0013 a0017 a0001 a0013 a0017	a0001c0001 a0013c0019 a0017c0030 a0001c0001 a0013c0019 a0017c0030	a0001c0001t0001 a0013c0019t0001 a0017c0030t0001 a0001c0001t0001 a0013c0019t0001 a0017c0030t0001	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0042 a0013c0019t0001g0034 a0017c0030t0001g0080	7	70	0.1000	15	c.882 others(32): Show c.882-4858_882-4844dupAAAAAAAAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPG11_chr15_44557696_44668662	44587718	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0178 a0006c0006t0001g0178	1	181	0.0055	15	c.490 others(34): Show c.4906+1533_4906+1534insGTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	28/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp1 NA18951.hp2 others(3): Show HG02040.hp1 HG02155.hp1 NA18951.hp2 NA18960.hp1 NA18966.hp2 NA18986.hp1	a0004 a0020 a0004 a0020	a0004c0004 a0020c0025 a0004c0004 a0020c0025	a0004c0004t0001 a0020c0025t0001 a0004c0004t0001 a0020c0025t0001	a0004c0004t0001g0149 a0004c0004t0001g0164 a0004c0004t0001g0166 others(3): Show a0004c0004t0001g0149 a0004c0004t0001g0164 a0004c0004t0001g0166 a0004c0004t0001g0171 a0004c0004t0001g0182 a0020c0025t0001g0172	6	76	0.0789	15	c.314 others(32): Show c.3146-121_3146-107dupTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44633324	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	27	0.0370	15	c.173 others(32): Show c.1735+166_1735+180dupTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39			chr15	TogoVar
SPHK1_chr17_76379609_76392855	76388640	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01071.hp1 others(13): Show HG00642.hp1 HG00741.hp2 HG01071.hp1 HG01243.hp2 HG02572.hp1 HG02896.hp1 HG02970.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp1 NA18940.hp2 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18983.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0012 a0001c0001 a0001c0002 a0008c0012	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0005g0001 a0001c0002t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0005g0001 a0001c0002t0001g0001 a0008c0012t0001g0001	16	171	0.0936	15	c.10 others(26): Show c.1054_*1055insTTTTTTTTTTTTTTT	SPHK1	ENSG00000176170.14	transcript	ENST00000592299.6	protein_coding		786		chr17	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(8): Show CCAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01255.hp2 others(28): Show HG00597.hp1 HG01074.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG02071.hp1 HG02135.hp1 HG02258.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG03017.hp2 HG03195.hp2 HG03471.hp2 HG03834.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18964.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19083.hp1 NA19087.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0001t0001 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0051 a0001c0012t0001g0007	31	227	0.1366	15	c.-30 others(26): Show c.-3014_-3013insCAGCACAGCACAGCA	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228154533	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0188 a0005c0004t0003g0188	1	221	0.0045	15	c.33- others(32): Show c.33-22449_33-22448insTATATATATATATAT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228161707	C C	CAGAACAA others(8): Show CAGAACAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp2 HG02723.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0019 a0001c0001 a0004c0019	a0001c0001t0008 a0004c0019t0003 a0001c0001t0008 a0004c0019t0003	a0001c0001t0008g0264 a0004c0019t0003g0111 a0001c0001t0008g0264 a0004c0019t0003g0111	2	267	0.0075	15	c.32+ others(32): Show c.32+19859_32+19860insATTTTATTTTGTTCT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47366822	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01517.hp1 HG02083.hp2 others(12): Show HG01433.hp1 HG01517.hp1 HG02083.hp2 HG02155.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03239.hp1 HG03834.hp1 NA18956.hp1 NA18982.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0035 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0002g0069 a0001c0001t0002g0070	15	49	0.3061	15	c.143 others(32): Show c.143-6797_143-6783dupCTTTTCTTTTCTTTT	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	2/4			chr11	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02717.hp2 others(3): Show HG02109.hp1 HG02622.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0153 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0153	6	11	0.5455	15	c.-22 others(26): Show c.-2223_-2209dupCAACAACAACAACAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2015		chr11	TogoVar
SPI1_chr11_47349860_47383547	47380585	G G	GTTGTTGT others(8): Show GTTGTTGTTGTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	387	0.0026	15	c.-22 others(26): Show c.-2233_-2232insAAACAACAACAACAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2039		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTAATATA others(8): Show TTAATATAGATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	20	0.0500	15	c.-31 others(26): Show c.-3135_-3134insTATATATCTATATTA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381507	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	374	0.0027	15	c.-31 others(26): Show c.-3155_-3154insATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2961		chr11	TogoVar
SPIDR_chr8_47255938_47741306	47393673	T T	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG02280.hp1 HG03486.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0002c0002t0002 a0004c0004t0002	a0002c0002t0002g0124 a0004c0004t0002g0123 a0002c0002t0002g0124 a0004c0004t0002g0123	2	44	0.0455	15	c.526 others(32): Show c.526-2655_526-2641dupTCCTTTCCTTTCCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47458323	G G	GTATTTTA others(8): Show GTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 NA18998.hp1 others(2): Show HG03225.hp1 HG03486.hp2 NA18998.hp1 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0104 a0001c0001t0002g0055 a0001c0001t0002g0129 others(2): Show a0001c0001t0001g0104 a0001c0001t0002g0055 a0001c0001t0002g0129 a0001c0001t0002g0185 a0001c0001t0004g0172	5	59	0.0847	15	c.109 others(36): Show c.1097+17836_1097+17850dupTTATTTTATTTTATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18906.hp2 HG02071.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0054 a0001c0001t0006g0048 a0001c0001t0002g0054 a0001c0001t0006g0048	2	75	0.0267	15	c.109 others(36): Show c.1098-29818_1098-29817insATATATATATATATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565993	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	207	0.0048	15	c.109 others(36): Show c.1098-29818_1098-29817insATATATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19			chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	3	0.3333	15	c.154 others(36): Show c.1545-32930_1545-32916dupTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN4_chrX_63342228_63356332	63356042	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	186	0.0054	15	c.-52 others(26): Show c.-5224_-5223insATTTTTTTTTTTTTT	SPIN4	ENSG00000186767.7	transcript	ENST00000374884.3	protein_coding		4711		chrX	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03139.hp2 HG03209.hp1 HG02886.hp2 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	3	184	0.0163	15	c.-16 others(26): Show c.-1650_-1649insTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK2_chr4_56804861_56826701	56812563	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	220	0.0045	15	c.250 others(30): Show c.250-784_250-770dupTTTTTTTTTTTTTTT	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding	2/3			chr4	TogoVar
SPINK4_chr9_33235167_33253567	33237858	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03486.hp1 NA18997.hp2 HG01496.hp2 HG03486.hp1 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0072 a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0072	3	12	0.2500	15	c.-23 others(26): Show c.-2351_-2350insGTGTGTGTGTGTGTG	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		2308		chr9	TogoVar
SPINK7_chr5_148307423_148320919	148316710	C C	CAAAAAGA others(8): Show CAAAAAGACTAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(82): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18985.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19012.hp1 NA19055.hp2 NA19058.hp1 NA19059.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19077.hp1 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0003g0002	85	440	0.1932	15	c.10 others(26): Show c.1026_*1027insAAAAAGACTAAAAAA	SPINK7	ENSG00000145879.11	transcript	ENST00000274565.5	protein_coding		792		chr5	TogoVar
SPINT3_chr20_45507461_45520622	45508627	T T	TTTCCCTT others(8): Show TTTCCCTTCCCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01123.hp1 others(16): Show HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01358.hp2 HG01433.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02735.hp1 HG02818.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA20752.hp1 NA20752.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0004 a0006c0006 a0002c0002 a0002c0004 a0006c0006	a0002c0002t0001 a0002c0004t0003 a0006c0006t0001 a0002c0002t0001 a0002c0004t0003 a0006c0006t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0023 others(3): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0004t0003g0016 a0006c0006t0001g0021	19	162	0.1173	15	c.40 others(26): Show c.4023_*4024insGGGAAGGGAAGGGAA	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding		3833		chr20	TogoVar
SPINT4_chr20_45717347_45730830	45724979	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	350	0.0029	15	c.294 others(30): Show c.294-647_294-633dupAAAAAAAAAAAAAAA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45724995	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	312	0.0032	15	c.294 others(30): Show c.294-633_294-632insAAAAAAAAAAAAATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45724995	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	312	0.0032	15	c.294 others(30): Show c.294-633_294-632insAAAAAAAAAAATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12591968	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0275 a0001c0001t0030g0275	1	130	0.0077	15	c.372 others(34): Show c.372+43079_372+43093dupTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp2 HG02145.hp1 others(2): Show HG01255.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0229 a0001c0001t0005g0067 a0001c0001t0005g0068 others(2): Show a0001c0001t0002g0229 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0009g0074	5	142	0.0352	15	c.372 others(34): Show c.372+19716_372+19717insATTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	138	0.0072	15	c.372 others(34): Show c.372+19716_372+19717insATATTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0319 a0005c0008t0003g0319	1	205	0.0049	15	c.372 others(34): Show c.372+19519_372+19520insTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12626887	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0003 a0004c0007t0017 a0001c0001t0003 a0004c0007t0017	a0001c0001t0003g0270 a0004c0007t0017g0272 a0001c0001t0003g0270 a0004c0007t0017g0272	2	234	0.0085	15	c.372 others(32): Show c.372+8174_372+8175insTATATATATATATAT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12658109	G G	GCGCCCCG others(8): Show GCGCCCCGCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02965.hp2 HG00673.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0300 a0001c0001t0031g0269 a0001c0001t0003g0300 a0001c0001t0031g0269	2	292	0.0068	15	c.-25 others(24): Show c.-258_-244dupGGGCGGGGCGGGGCG	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding		3		chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89842208	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG01070.hp2 others(62): Show HG00438.hp1 HG00609.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03490.hp1 HG03540.hp2 HG03654.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA19007.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19081.hp1 NA20300.hp2 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0006c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0003t0001 a0003c0004t0001 a0006c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0023 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0353 a0001c0001t0004g0126 a0001c0001t0004g0151 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0011g0091 a0001c0001t0015g0125 a0001c0003t0001g0117 a0001c0003t0001g0118 a0003c0004t0001g0042 a0003c0004t0001g0059 a0003c0004t0001g0064 a0003c0004t0001g0065 a0006c0024t0001g0153	65	159	0.4088	15	c.245 others(32): Show c.245-3106_245-3092dupTTTTTTTTTTTTTTT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852312	G G	GCCCATCT others(8): Show GCCCATCTTCCATCCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	354	0.0028	15	c.645 others(32): Show c.645+1656_645+1670dupATCTTCCATCCTCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	30	0.0333	15	c.180 others(32): Show c.1807-513_1807-512insAAAAAAATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 NA19010.hp1 HG02897.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0002 a0001c0002t0004 a0001c0004t0002	a0001c0002t0004g0348 a0001c0004t0002g0292 a0001c0002t0004g0348 a0001c0004t0002g0292	2	43	0.0465	15	c.-40 others(26): Show c.-4074_-4073insAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4442017	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0264 a0002c0002t0001g0264	1	354	0.0028	15	c.265 others(32): Show c.265+2294_265+2295insGTGTGTGTGTGTGTG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4466034	G G	GGGAGCAG others(8): Show GGGAGCAGGTGTGCTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0174 a0003c0008t0003g0174	1	360	0.0028	15	c.111 others(36): Show c.1114-12536_1114-12522dupGAGCAGGTGTGCTTG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468714	C C	CTCTCTTT others(8): Show CTCTCTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	360	0.0028	15	c.111 others(34): Show c.1114-9855_1114-9854insCTTTCTTTTCTTTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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