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
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp2 others(23): Show HG00099.hp2 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG01070.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG02004.hp1 HG02040.hp2 HG02132.hp2 HG02280.hp2 HG02300.hp1 HG03710.hp2 NA18940.hp1 NA18971.hp2 NA18981.hp2 NA18986.hp2 NA18999.hp2 NA19007.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0003g0135	26	390	0.0667	16	c.-31 others(27): Show c.-3150_-3135dupTATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(9): Show TAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0019 a0002c0019t0019	a0002c0019t0019g0008 a0002c0019t0019g0008	1	364	0.0028	16	c.611 others(33): Show c.611+8017_611+8032dupCTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113486156	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18969.hp2 NA18972.hp2 others(5): Show HG03704.hp2 NA18969.hp2 NA18972.hp2 NA18975.hp1 NA18985.hp1 NA19077.hp2 NA19085.hp2 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0005 a0002c0003t0009 a0002c0008t0012 a0002c0003t0005 a0002c0003t0009 a0002c0008t0012	a0002c0003t0005g0335 a0002c0003t0005g0347 a0002c0003t0005g0348 others(5): Show a0002c0003t0005g0335 a0002c0003t0005g0347 a0002c0003t0005g0348 a0002c0003t0005g0352 a0002c0003t0005g0353 a0002c0003t0009g0351 a0002c0003t0009g0355 a0002c0008t0012g0110	8	364	0.0220	16	c.611 others(33): Show c.611+2773_611+2788dupATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPICE1_chr3_113437718_113520156	113486210	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0172 a0003c0005t0004g0172	1	364	0.0028	16	c.611 others(33): Show c.611+2719_611+2734dupATATATATATATATAT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIC_chr12_101470336_101491997	101479172	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	398	0.0025	16	c.98- others(29): Show c.98-375_98-360dupAGAAAGAAAGAAAGAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIC_chr12_101470336_101491997	101479227	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18990.hp2 NA18975.hp1 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	2	398	0.0050	16	c.98- others(29): Show c.98-340_98-339insGGAAAGAAAGAAAGAA	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(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04204.hp1 NA19060.hp2 HG00597.hp2 HG04204.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0001g0203 a0001c0001t0001g0237 a0001c0001t0001g0250	3	398	0.0075	16	c.98- others(29): Show c.98-239_98-224dupGAAAGAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	216	0.0046	16	c.109 others(37): Show c.1098-29818_1098-29817insATATATATATATATTT	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(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp1 HG02615.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0122 a0004c0004t0002g0123	2	216	0.0093	16	c.109 others(37): Show c.1098-29818_1098-29817insATATATATATATTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47572673	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19004.hp2 HG02165.hp2 NA19004.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0002 a0010c0010t0001 a0001c0001t0002 a0010c0010t0001	a0001c0001t0002g0148 a0010c0010t0001g0213 a0001c0001t0002g0148 a0010c0010t0001g0213	2	216	0.0093	16	c.109 others(37): Show c.1098-23115_1098-23100dupATAAATAAATAAATAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647616	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01192.hp1 others(5): Show HG00408.hp1 HG00438.hp2 HG01192.hp1 HG01255.hp2 HG01496.hp2 HG02155.hp2 HG04228.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0080 others(5): Show a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0211 a0001c0001t0002g0041	8	216	0.0370	16	c.154 others(37): Show c.1545-26162_1545-26147dupAGAGAGAGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47671585	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp1 HG01081.hp2 others(22): Show HG00423.hp2 HG00733.hp1 HG01081.hp2 HG01928.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02602.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03486.hp2 HG03704.hp2 HG03710.hp2 HG04204.hp1 NA18522.hp2 NA18974.hp2 NA18982.hp1 NA18987.hp1 NA19056.hp2 NA19064.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0005c0006t0002	a0001c0001t0001g0051 a0001c0001t0002g0028 a0001c0001t0002g0034 others(22): Show a0001c0001t0001g0051 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0003g0002 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0068 a0005c0006t0002g0014 a0005c0006t0002g0015	25	216	0.1157	16	c.154 others(35): Show c.1545-2194_1545-2179dupAATAAATAAATAAATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47735087	G G	GGTGTGTG others(9): Show GGTGTGTGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03490.hp1 NA18971.hp1 others(1): Show HG00323.hp1 HG03490.hp1 NA18971.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176	4	216	0.0185	16	c.260 others(33): Show c.2605-196_2605-181dupGGTGTGTGTGTGTGTG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88406005	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	176	0.0057	16	c.-15 others(37): Show c.-159+17489_-159+17504dupGTGTGTGTGTGTGTGT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88408981	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02622.hp2 HG02818.hp2 others(1): Show HG02080.hp2 HG02622.hp2 HG02818.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0147 a0001c0001t0002g0051 a0001c0001t0003g0040 others(1): Show a0001c0001t0001g0147 a0001c0001t0002g0051 a0001c0001t0003g0040 a0001c0001t0013g0002	4	176	0.0227	16	c.-15 others(37): Show c.-158-17387_-158-17372dupGTGTGTGTGTGTGTGT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0175 a0001c0001t0009g0176	2	176	0.0114	16	c.53- others(31): Show c.53-7541_53-7526dupTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINDOC_chr11_63808456_63832716	63832007	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	392	0.0026	16	c.48 others(27): Show c.4868_*4869insTTTTTTTTTTTTTTTT	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding		4292		chr11	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG03453.hp1 others(1): Show HG01243.hp1 HG02055.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0099 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0099 a0001c0001t0001g0138 a0001c0001t0003g0057	4	376	0.0106	16	c.-16 others(27): Show c.-1650_-1649insTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK4_chr9_33235167_33253567	33237858	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01256.hp1 HG01257.hp2 others(23): Show HG00642.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG02135.hp1 HG02572.hp1 HG02572.hp2 HG02818.hp2 HG02922.hp1 HG03486.hp2 HG03516.hp1 HG04228.hp2 NA18954.hp1 NA18961.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18995.hp2 NA19012.hp2 NA19030.hp1 NA19062.hp1 NA19070.hp1 NA19072.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0004c0004t0002 a0001c0001t0001 a0002c0002t0002 a0004c0004t0002	a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 others(8): Show a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0024 a0002c0002t0002g0029 a0002c0002t0002g0070 a0002c0002t0002g0081 a0002c0002t0002g0084 a0004c0004t0002g0024	26	378	0.0688	16	c.-23 others(27): Show c.-2351_-2350insTGTGTGTGTGTGTGTG	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		2308		chr9	TogoVar
SPINK5_chr5_148058980_148142382	148077637	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02258.hp1 HG02886.hp2 others(5): Show HG02027.hp2 HG02258.hp1 HG02886.hp2 NA18944.hp2 NA19000.hp2 NA19070.hp1 NA19083.hp1 NA19091.hp2	a0004 a0006 a0011 a0004 a0006 a0011	a0004c0004 a0006c0006 a0011c0045 a0004c0004 a0006c0006 a0011c0045	a0004c0004t0002 a0006c0006t0002 a0011c0045t0002 a0004c0004t0002 a0006c0006t0002 a0011c0045t0002	a0004c0004t0002g0035 a0004c0004t0002g0037 a0004c0004t0002g0040 others(5): Show a0004c0004t0002g0035 a0004c0004t0002g0037 a0004c0004t0002g0040 a0004c0004t0002g0041 a0004c0004t0002g0042 a0004c0004t0002g0043 a0006c0006t0002g0079 a0011c0045t0002g0081	8	384	0.0208	16	c.282 others(33): Show c.282+5425_282+5440dupATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123511	C C	CCGATTAT others(9): Show CCGATTATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0206 a0008c0009t0002g0206	1	384	0.0026	16	c.253 others(33): Show c.2539-322_2539-321insCGATTATATATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32			chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123511	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp1 NA19058.hp1 HG02027.hp2 HG02129.hp1 NA19058.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0035 a0004c0004t0002g0044 a0004c0004t0002g0064 a0004c0004t0002g0035 a0004c0004t0002g0044 a0004c0004t0002g0064	3	384	0.0078	16	c.253 others(33): Show c.2539-322_2539-321insTATATATATATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32			chr5	TogoVar
SPINT2_chr19_38259573_38297615	38259613	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	400	0.0025	16	c.-52 others(27): Show c.-5280_-5279insTATATATATATATATA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4959		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38268766	C C	CGCGCGTG others(9): Show CGCGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp2 HG01358.hp2 HG00733.hp2 HG01106.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323	3	400	0.0075	16	c.106 others(33): Show c.106+3769_106+3770insCGCGTGTGTGTGTGTG	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38268766	C C	CGCGTGTG others(9): Show CGCGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02258.hp1 HG02132.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0002g0324 a0001c0001t0001g0060 a0001c0001t0002g0324	2	400	0.0050	16	c.106 others(33): Show c.106+3769_106+3770insCGTGTGTGTGTGTGTG	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38268766	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	400	0.0025	16	c.106 others(33): Show c.106+3777_106+3792dupGTGTGTGTGTGTGTGT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT3_chr20_45507461_45520622	45510317	C C	CCTCCTGC others(9): Show CCTCCTGCCTTCTTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(11): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02109.hp1 HG02293.hp2 HG02886.hp2 HG03041.hp1 HG03540.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0010 a0002c0002t0001g0007 a0001c0001t0004g0010 a0002c0002t0001g0007	14	454	0.0308	16	c.23 others(27): Show c.2333_*2334insAGCAAGAAGGCAGGAG	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding		2143		chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12526056	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp1 HG01074.hp1 others(29): Show HG00609.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02145.hp1 HG02165.hp1 HG02622.hp1 HG02683.hp2 HG02922.hp1 HG03017.hp1 HG03225.hp1 HG03579.hp1 HG03710.hp1 NA18906.hp1 NA18939.hp1 NA18964.hp1 NA18968.hp1 NA18984.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0002t0003 a0001c0003t0004 a0002c0014t0003	a0001c0001t0001g0067 a0001c0001t0001g0153 a0001c0001t0001g0216 others(29): Show a0001c0001t0001g0067 a0001c0001t0001g0153 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0202 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0295 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0003g0311 a0001c0001t0004g0054 a0001c0001t0005g0069 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0006g0029 a0001c0001t0006g0039 a0001c0001t0010g0309 a0001c0001t0019g0005 a0001c0001t0021g0226 a0001c0002t0003g0265 a0001c0003t0004g0042 a0002c0014t0003g0323	32	328	0.0976	16	c.729 others(33): Show c.729+9404_729+9419dupGTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12526092	C C	CACACACA others(9): Show CACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 others(1): Show HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 others(1): Show a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0013g0009	4	328	0.0122	16	c.729 others(33): Show c.729+9383_729+9384insCTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12579186	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	328	0.0031	16	c.373 others(35): Show c.373-32283_373-32282insGTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 NA19009.hp2 HG02055.hp1 HG02258.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0036 a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0001g0036 a0001c0001t0009g0082 a0001c0001t0009g0083	3	328	0.0092	16	c.372 others(35): Show c.372+19716_372+19717insATTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA21309.hp2 HG01978.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0002g0201 a0001c0001t0001g0137 a0001c0001t0002g0201	2	328	0.0061	16	c.372 others(35): Show c.372+19716_372+19717insATATTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19088.hp1 NA19060.hp2 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0320 a0001c0004t0003g0321 a0001c0004t0003g0320 a0001c0004t0003g0321	2	328	0.0061	16	c.372 others(35): Show c.372+19716_372+19717insATATATATTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02896.hp1 HG03225.hp2 others(1): Show HG02523.hp2 HG02896.hp1 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0015g0252 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0015g0252 a0001c0001t0015g0253	4	328	0.0122	16	c.372 others(35): Show c.372+19519_372+19520insTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89842208	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00733.hp2 others(38): Show HG00408.hp1 HG00673.hp2 HG00733.hp2 HG01071.hp1 HG01261.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 NA18945.hp1 NA18974.hp1 NA18984.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19088.hp2 NA20752.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0012	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0003c0004 a0009c0012 a0012c0028	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0003t0001 a0001c0003t0013 a0001c0006t0001 a0003c0004t0001 a0009c0012t0001 a0012c0028t0001	a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0099 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0171 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0004g0204 a0001c0001t0004g0259 a0001c0001t0004g0262 a0001c0001t0009g0174 a0001c0003t0001g0132 a0001c0003t0013g0128 a0001c0006t0001g0015 a0003c0004t0001g0173 a0003c0004t0001g0186 a0003c0004t0001g0205 a0003c0004t0001g0211 a0003c0004t0001g0355 a0003c0004t0001g0356 a0009c0012t0001g0247 a0012c0028t0001g0255	41	356	0.1152	16	c.245 others(33): Show c.245-3107_245-3092dupTTTTTTTTTTTTTTTT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	356	0.0028	16	c.180 others(33): Show c.1807-513_1807-512insAAAAAAAATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0309 a0004c0005t0001g0309	1	356	0.0028	16	c.180 others(33): Show c.1807-513_1807-512insAATATATATATATATA	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(9): Show TAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0349 a0005c0009t0004g0349	1	404	0.0025	16	c.-40 others(27): Show c.-4074_-4073insAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4441981	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG01515.hp2 others(5): Show HG01106.hp1 HG01255.hp2 HG01515.hp2 HG02055.hp2 HG03130.hp2 HG03239.hp2 NA18522.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0008 a0001c0001 a0003c0005 a0003c0008	a0001c0001t0002 a0003c0005t0001 a0003c0005t0002 others(1): Show a0001c0001t0002 a0003c0005t0001 a0003c0005t0002 a0003c0008t0003	a0001c0001t0002g0162 a0001c0001t0002g0339 a0001c0001t0002g0340 others(5): Show a0001c0001t0002g0162 a0001c0001t0002g0339 a0001c0001t0002g0340 a0003c0005t0001g0106 a0003c0005t0001g0118 a0003c0005t0002g0157 a0003c0008t0003g0270 a0003c0008t0003g0271	8	362	0.0221	16	c.265 others(33): Show c.265+2258_265+2259insGTGTGTGTGTGTGTGT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4441983	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01255.hp1 others(24): Show HG00323.hp1 HG01099.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01943.hp2 HG01981.hp2 HG02071.hp1 HG02145.hp2 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04228.hp2 NA19011.hp2 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0013 a0001c0051 a0001c0054 a0002c0002 a0004c0017 a0004c0030 a0004c0050 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0007t0003 a0001c0009t0002 a0001c0013t0001 a0001c0051t0002 a0001c0054t0002 a0002c0002t0001 a0004c0017t0002 a0004c0030t0002 a0004c0050t0002 a0005c0015t0003	a0001c0001t0001g0113 a0001c0001t0001g0156 a0001c0001t0001g0240 others(24): Show a0001c0001t0001g0113 a0001c0001t0001g0156 a0001c0001t0001g0240 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0145 a0001c0001t0002g0164 a0001c0003t0001g0110 a0001c0003t0001g0320 a0001c0003t0002g0315 a0001c0007t0003g0319 a0001c0009t0002g0028 a0001c0013t0001g0359 a0001c0051t0002g0003 a0001c0054t0002g0063 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0159 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0299 a0002c0002t0001g0355 a0004c0017t0002g0033 a0004c0017t0002g0331 a0004c0030t0002g0009 a0004c0050t0002g0006 a0005c0015t0003g0155	27	362	0.0746	16	c.265 others(33): Show c.265+2279_265+2294dupGTGTGTGTGTGTGTGT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(9): Show CCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG03041.hp2 others(2): Show HG02486.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 a0001c0001 a0001c0006 a0001c0009	a0001c0001t0002 a0001c0006t0001 a0001c0009t0002 a0001c0001t0002 a0001c0006t0001 a0001c0009t0002	a0001c0001t0002g0317 a0001c0006t0001g0041 a0001c0009t0002g0020 others(2): Show a0001c0001t0002g0317 a0001c0006t0001g0041 a0001c0009t0002g0020 a0001c0009t0002g0021 a0001c0009t0002g0023	5	362	0.0138	16	c.111 others(35): Show c.1113+5386_1113+5387insCCTTCCTTCCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(9): Show CCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02818.hp2 HG03130.hp2 others(1): Show HG02083.hp2 HG02818.hp2 HG03130.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0002g0339 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0002g0339 a0001c0001t0002g0341	4	362	0.0111	16	c.111 others(35): Show c.1113+5386_1113+5387insCCTTCCTTTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(9): Show CCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01167.hp2 HG01952.hp1 others(6): Show HG00423.hp1 HG01167.hp2 HG01952.hp1 HG02109.hp2 NA18983.hp1 NA19077.hp1 NA19081.hp1 NA19085.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0006c0026	a0001c0001t0001 a0001c0007t0003 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0007t0003 a0001c0009t0001 a0006c0026t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0188 a0001c0007t0003g0171 a0001c0009t0001g0004 a0006c0026t0001g0227	9	362	0.0249	16	c.111 others(35): Show c.1113+5386_1113+5387insCCTTTCTTTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	362	0.0028	16	c.111 others(35): Show c.1113+5429_1113+5444dupTTTCTTTCTTTCTTTC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462810	T T	TATCCATC others(9): Show TATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02145.hp2 others(4): Show HG01099.hp1 HG02055.hp2 HG02145.hp2 HG02818.hp1 HG03098.hp2 HG03139.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0001c0023 others(3): Show a0001c0001 a0001c0009 a0001c0023 a0004c0017 a0004c0030 a0004c0050	a0001c0001t0002 a0001c0009t0002 a0001c0023t0003 others(3): Show a0001c0001t0002 a0001c0009t0002 a0001c0023t0003 a0004c0017t0002 a0004c0030t0002 a0004c0050t0002	a0001c0001t0002g0162 a0001c0009t0002g0028 a0001c0023t0003g0014 others(4): Show a0001c0001t0002g0162 a0001c0009t0002g0028 a0001c0023t0003g0014 a0004c0017t0002g0033 a0004c0017t0002g0331 a0004c0030t0002g0009 a0004c0050t0002g0006	7	362	0.0193	16	c.111 others(35): Show c.1113+9616_1113+9631dupCCATCCATCCATCCAT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4467040	A A	ATGCGGAG others(9): Show ATGCGGAGGGCAGCCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0005 a0001c0031t0005	a0001c0031t0005g0036 a0001c0031t0005g0036	1	362	0.0028	16	c.111 others(37): Show c.1114-11523_1114-11508dupGCAGCCTGTGCGGAGG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp2 others(61): Show HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02897.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp2 HG03710.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18950.hp2 NA18957.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19077.hp1 NA19087.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0001c0023 a0001c0047 a0001c0048 a0001c0049 a0001c0051 a0002c0002 a0002c0011 a0002c0022 a0002c0044 a0003c0005 a0003c0008 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0007t0003 a0001c0012t0001 a0001c0013t0001 a0001c0023t0003 a0001c0047t0003 a0001c0048t0002 a0001c0049t0002 a0001c0051t0002 a0002c0002t0001 a0002c0011t0003 a0002c0022t0001 a0002c0044t0001 a0003c0005t0001 a0003c0008t0003 a0003c0016t0001	a0001c0001t0001g0095 a0001c0001t0001g0188 a0001c0001t0001g0191 others(61): Show a0001c0001t0001g0095 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0298 a0001c0001t0001g0334 a0001c0001t0001g0360 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0003t0001g0154 a0001c0003t0001g0172 a0001c0003t0001g0345 a0001c0003t0002g0139 a0001c0004t0001g0056 a0001c0004t0001g0065 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0006t0001g0038 a0001c0006t0002g0012 a0001c0006t0002g0089 a0001c0007t0003g0249 a0001c0007t0003g0250 a0001c0007t0003g0319 a0001c0012t0001g0046 a0001c0013t0001g0359 a0001c0023t0003g0053 a0001c0047t0003g0152 a0001c0048t0002g0316 a0001c0049t0002g0321 a0001c0051t0002g0003 a0002c0002t0001g0232 a0002c0002t0001g0262 a0002c0002t0001g0268 a0002c0002t0001g0273 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0308 a0002c0002t0001g0354 a0002c0011t0003g0256 a0002c0011t0003g0260 a0002c0011t0003g0279 a0002c0022t0001g0059 a0002c0044t0001g0228 a0003c0005t0001g0106 a0003c0005t0001g0118 a0003c0005t0001g0177 a0003c0005t0001g0182 a0003c0008t0003g0100 a0003c0016t0001g0083	64	362	0.1768	16	c.111 others(35): Show c.1114-9825_1114-9810dupTTCTTTCTTTCTTTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPN_chr16_29658247_29675876	29666524	T T	TCTCTCAC others(9): Show TCTCTCACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG01243.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0164 a0002c0003t0165 a0002c0003t0164 a0002c0003t0165	a0002c0003t0164g0001 a0002c0003t0165g0001 a0002c0003t0164g0001 a0002c0003t0165g0001	2	394	0.0051	16	c.15 others(27): Show c.1594_*1595insTCTCACACACACACAC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1595	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPN_chr16_29658247_29675876	29666552	A A	ACACACAC others(9): Show ACACACACACACACACG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0001 a0001c0001t0120g0001	1	394	0.0025	16	c.16 others(27): Show c.1622_*1623insACACACACACACACGC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1623	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPN_chr16_29658247_29675876	29666552	A A	ACACACAC others(9): Show ACACACACACACGCGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG04184.hp2 HG01261.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0131 a0001c0001t0122 a0001c0001t0131	a0001c0001t0122g0002 a0001c0001t0131g0002 a0001c0001t0122g0002 a0001c0001t0131g0002	2	394	0.0051	16	c.16 others(27): Show c.1622_*1623insACACACACACGCGCGC	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	1623	INFO_REALIGN_3_PRIME	chr16	TogoVar

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