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
SPIDR_chr8_47255938_47741306	47393673	T T	TTTTCCTT others(13): Show TTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	216	0.0046	20	c.526 others(37): Show c.526-2660_526-2641dupTCCTTTCCTTTCCTTTCCTT	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(13): Show GTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01978.hp1 HG01081.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0031 a0001c0001t0002g0035	2	216	0.0093	20	c.109 others(41): Show c.1097+17831_1097+17850dupTTATTTTATTTTATTTTATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565971	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	216	0.0046	20	c.109 others(41): Show c.1098-29837_1098-29818dupATATATATATATATATATAT	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(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	216	0.0046	20	c.109 others(41): Show c.1098-29818_1098-29817insATATATATATATATATATTT	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(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	216	0.0046	20	c.109 others(41): Show c.1098-29818_1098-29817insATATATATATATATATTTTT	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(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0120	1	216	0.0046	20	c.109 others(41): Show c.1098-29818_1098-29817insATATATATATATATTTTTTT	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(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	216	0.0046	20	c.109 others(41): Show c.1098-23119_1098-23100dupATAAATAAATAAATAAATAA	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(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp1 NA18964.hp2 others(1): Show HG01099.hp2 HG02258.hp1 NA18964.hp2 NA19004.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0010 a0001c0001 a0002c0002 a0010c0010	a0001c0001t0001 a0002c0002t0002 a0010c0010t0001 a0001c0001t0001 a0002c0002t0002 a0010c0010t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0002c0002t0002g0021 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0002c0002t0002g0021 a0010c0010t0001g0213	4	216	0.0185	20	c.154 others(41): Show c.1545-26166_1545-26147dupAGAGAGAGAGAGAGAGAGAG	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647679	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	216	0.0046	20	c.154 others(41): Show c.1545-26111_1545-26110insGGAGAGAGGGAGAGAGAGAG	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(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG02451.hp1 others(5): Show HG00408.hp1 HG01243.hp1 HG02451.hp1 HG02895.hp1 HG03490.hp2 NA18998.hp1 NA19043.hp1 NA19058.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0007 a0001c0001 a0003c0003 a0011c0007	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0011c0007t0001	a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0002g0016 others(5): Show a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0002g0016 a0001c0001t0002g0036 a0001c0001t0002g0055 a0001c0001t0002g0154 a0003c0003t0002g0005 a0011c0007t0001g0200	8	216	0.0370	20	c.154 others(39): Show c.1545-2198_1545-2179dupAATAAATAAATAAATAAATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88408981	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	176	0.0057	20	c.-15 others(41): Show c.-158-17391_-158-17372dupGTGTGTGTGTGTGTGTGTGT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(13): Show CGCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02717.hp1 HG03130.hp1 others(2): Show HG01255.hp2 HG02717.hp1 HG03130.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0166 others(2): Show a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0002t0004g0084 a0001c0002t0004g0085	5	176	0.0284	20	c.53- others(35): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0136 a0001c0001t0001g0013 a0001c0001t0001g0136	2	376	0.0053	20	c.-16 others(31): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK4_chr9_33235167_33253567	33237858	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18990.hp1 NA19081.hp2 NA18956.hp1 NA18990.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	3	378	0.0079	20	c.-23 others(31): Show c.-2351_-2350insTGTGTGTGTGTGTGTGTGTG	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		2308		chr9	TogoVar
SPINK5_chr5_148058980_148142382	148077637	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03471.hp2 HG02717.hp2 HG03471.hp2	a0008 a0012 a0008 a0012	a0008c0009 a0012c0014 a0008c0009 a0012c0014	a0008c0009t0009 a0012c0014t0002 a0008c0009t0009 a0012c0014t0002	a0008c0009t0009g0076 a0012c0014t0002g0084 a0008c0009t0009g0076 a0012c0014t0002g0084	2	384	0.0052	20	c.282 others(37): Show c.282+5421_282+5440dupATATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123521	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 NA19240.hp1 HG02280.hp2 HG02970.hp1 NA19240.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0004 a0009c0010t0004	a0009c0010t0004g0142 a0009c0010t0004g0143 a0009c0010t0004g0147 a0009c0010t0004g0142 a0009c0010t0004g0143 a0009c0010t0004g0147	3	384	0.0078	20	c.253 others(37): Show c.2539-311_2539-310insGTGTGTATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148126571	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0002 a0024c0034t0002	a0024c0034t0002g0088 a0024c0034t0002g0088	1	384	0.0026	20	c.286 others(37): Show c.2868-393_2868-374dupTATTTATTTATTTATTTATT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	29/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209997	C C	CGTACGTA others(13): Show CGTACGTACATACGTACGTAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02155.hp2 HG02257.hp1 others(30): Show HG02015.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18953.hp1 NA18965.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19075.hp1 NA19084.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0057 others(13): Show a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0057 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0189	33	438	0.0753	20	c.82- others(35): Show c.82-3910_82-3909insCGTACATACGTACGTATGTA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212488	A A	ATATATAT others(13): Show ATATATATAAAGTATATATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0003c0003t0001g0125	266	438	0.6073	20	c.82- others(35): Show c.82-1414_82-1413insAAGTATATATTTTATATATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38268766	C C	CGCGCGTG others(13): Show CGCGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	400	0.0025	20	c.106 others(37): Show c.106+3769_106+3770insCGCGTGTGTGTGTGTGTGTG	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(13): Show CGCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp1 HG02027.hp2 others(17): Show HG00438.hp1 HG01070.hp1 HG02027.hp2 HG02083.hp1 HG02300.hp2 NA18945.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18963.hp1 NA18995.hp1 NA19000.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19067.hp2 NA19068.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0057 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0326 a0001c0001t0006g0008	20	400	0.0500	20	c.106 others(37): Show c.106+3769_106+3770insCGTGTGTGTGTGTGTGTGTG	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG02523.hp1 others(5): Show HG00738.hp2 HG01109.hp1 HG02523.hp1 HG02572.hp2 HG03490.hp2 HG03492.hp1 NA18962.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0001g0203 a0001c0001t0001g0216 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0002g0037 a0001c0001t0002g0278 a0001c0001t0003g0031	8	400	0.0200	20	c.391 others(35): Show c.391+303_391+322dupAAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT3_chr20_45507461_45520622	45508627	T T	TTTCCCTT others(13): Show TTTCCCTTCCCTTCCCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01167.hp1 others(2): Show HG00323.hp2 HG00741.hp1 HG01167.hp1 HG01169.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	5	454	0.0110	20	c.40 others(31): Show c.4023_*4024insGGGAAGGGAAGGGAAGGGAA	SPINT3	ENSG00000101446.8	transcript	ENST00000217428.7	protein_coding		3833		chr20	TogoVar
SPINT4_chr20_45717347_45730830	45724979	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02293.hp1 HG01070.hp2 HG01071.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	3	458	0.0066	20	c.294 others(35): Show c.294-633_294-632insAAAAAAAAAAAAAAAAAAAA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45727081	G G	GAAGGCAA others(13): Show GAAGGCAATTGTATCCTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	458	0.0022	20	c.14 others(31): Show c.1446_*1447insAAGGCAATTGTATCCTGTGC	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding		1252		chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12461422	G G	GTATGTAT others(13): Show GTATGTATGTATATACATACA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA21309.hp2 HG01978.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0029 a0001c0001t0001 a0003c0010t0029	a0001c0001t0001g0137 a0003c0010t0029g0136 a0001c0001t0001g0137 a0003c0010t0029g0136	2	328	0.0061	20	c.163 others(39): Show c.1638+1928_1638+1929insTGTATGTATATACATACATA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12526056	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(35): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01993.hp2 HG02109.hp1 HG02273.hp2 HG02602.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG04204.hp2 NA18939.hp2 NA18949.hp2 NA18969.hp1 NA18975.hp1 NA18977.hp1 NA18988.hp1 NA19009.hp1 NA19010.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19091.hp2 NA20752.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0012 a0008c0008 a0001c0001 a0006c0012 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0034 a0006c0012t0003 a0008c0008t0003	a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 others(35): Show a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0150 a0001c0001t0001g0212 a0001c0001t0001g0249 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0312 a0001c0001t0004g0043 a0001c0001t0004g0051 a0001c0001t0005g0070 a0001c0001t0010g0310 a0001c0001t0034g0327 a0006c0012t0003g0319 a0008c0008t0003g0304	38	328	0.1159	20	c.729 others(37): Show c.729+9400_729+9419dupGTGTGTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12526092	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01258.hp1 HG00639.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0007 a0001c0001t0018	a0001c0001t0007g0006 a0001c0001t0018g0001 a0001c0001t0007g0006 a0001c0001t0018g0001	2	328	0.0061	20	c.729 others(37): Show c.729+9383_729+9384insCTGTGTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18991.hp1 NA19011.hp2 HG00673.hp2 NA18991.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0195 a0001c0001t0003g0300 a0001c0001t0011g0324 a0001c0001t0001g0195 a0001c0001t0003g0300 a0001c0001t0011g0324	3	328	0.0092	20	c.372 others(39): Show c.372+19716_372+19717insATATTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18963.hp1 NA18964.hp1 others(2): Show NA18941.hp2 NA18963.hp1 NA18964.hp1 NA19060.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0003g0292 others(2): Show a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0003g0292 a0001c0001t0003g0301 a0001c0001t0003g0306	5	328	0.0152	20	c.372 others(39): Show c.372+19716_372+19717insATATATTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02647.hp1 HG02896.hp1 others(6): Show HG00558.hp1 HG02647.hp1 HG02896.hp1 HG03225.hp2 NA18952.hp2 NA19009.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0251 a0001c0001t0003g0283 a0001c0001t0003g0284 others(6): Show a0001c0001t0001g0251 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0003g0296 a0001c0001t0003g0302 a0001c0001t0003g0318 a0001c0001t0015g0252 a0001c0001t0015g0253	9	328	0.0274	20	c.372 others(39): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	328	0.0031	20	c.372 others(39): Show c.372+19716_372+19717insATATATATATTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG04228.hp1 NA19058.hp2 HG03130.hp2 HG04228.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010	a0001c0001t0003g0278 a0001c0001t0008g0262 a0001c0001t0010g0291 a0001c0001t0003g0278 a0001c0001t0008g0262 a0001c0001t0010g0291	3	328	0.0092	20	c.372 others(39): Show c.372+19519_372+19520insTTTTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12626867	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	328	0.0031	20	c.372 others(37): Show c.372+8175_372+8194dupATATATATATATATATATAT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03942.hp2 NA19005.hp1 others(2): Show HG02293.hp2 HG03942.hp2 NA19005.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0245 a0001c0001t0001g0352 a0001c0003t0001g0120 others(2): Show a0001c0001t0001g0245 a0001c0001t0001g0352 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0005g0273	5	356	0.0140	20	c.180 others(37): Show c.1807-513_1807-512insAAAAAAAATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02622.hp2 HG02895.hp2 others(6): Show HG02071.hp1 HG02622.hp2 HG02895.hp2 HG02976.hp1 HG03209.hp2 HG03516.hp2 NA18960.hp2 NA19054.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0004c0005t0001	a0001c0001t0001g0104 a0001c0001t0001g0134 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0104 a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0248 a0001c0001t0001g0354 a0001c0001t0007g0026 a0001c0003t0001g0101 a0004c0005t0001g0295	9	356	0.0253	20	c.180 others(37): Show c.1807-513_1807-512insAAAAAATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp2 HG02273.hp2 others(4): Show HG00408.hp2 HG01884.hp2 HG02273.hp2 HG02738.hp2 HG03516.hp1 HG03834.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0156 a0001c0001t0001g0172 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0288 a0001c0001t0001g0307 a0001c0001t0001g0321	7	356	0.0197	20	c.180 others(37): Show c.1807-513_1807-512insAAAATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	356	0.0028	20	c.180 others(37): Show c.1807-511_1807-492dupATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869072	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	356	0.0028	20	c.180 others(37): Show c.1807-492_1807-491insATATATATATATATATGTAT	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(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02717.hp1 HG02818.hp1 others(1): Show HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0038	a0001c0001t0001g0221 a0001c0001t0002g0090 a0001c0001t0004g0237 others(1): Show a0001c0001t0001g0221 a0001c0001t0002g0090 a0001c0001t0004g0237 a0001c0001t0038g0220	4	404	0.0099	20	c.-40 others(31): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS2_chr17_4493881_4544035	4512673	C C	CGAGCGGG others(13): Show CGAGCGGGTGTGTATGCATGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG03540.hp2 HG02559.hp1 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0004 a0001c0018t0045 a0001c0001t0001 a0001c0001t0004 a0001c0018t0045	a0001c0001t0001g0221 a0001c0001t0004g0223 a0001c0018t0045g0222 a0001c0001t0001g0221 a0001c0001t0004g0223 a0001c0018t0045g0222	3	404	0.0074	20	c.371 others(35): Show c.371-573_371-572insAGCGGGTGTGTATGCATGTG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS2_chr17_4493881_4544035	4512675	C C	CGCGGGTG others(13): Show CGCGGGTGTGTATGCATGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA20300.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0036 a0001c0001t0006 a0001c0001t0036	a0001c0001t0006g0031 a0001c0001t0036g0224 a0001c0001t0006g0031 a0001c0001t0036g0224	2	404	0.0050	20	c.371 others(35): Show c.371-571_371-570insCGGGTGTGTATGCATGTGTG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS2_chr17_4493881_4544035	4516316	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	404	0.0025	20	c.436 others(37): Show c.436+3012_436+3031dupAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4441981	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01433.hp1 HG02698.hp2 HG01169.hp2 HG01433.hp1 HG02698.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0003c0008 a0001c0003 a0003c0005 a0003c0008	a0001c0003t0002 a0003c0005t0001 a0003c0008t0003 a0001c0003t0002 a0003c0005t0001 a0003c0008t0003	a0001c0003t0002g0138 a0003c0005t0001g0311 a0003c0008t0003g0176 a0001c0003t0002g0138 a0003c0005t0001g0311 a0003c0008t0003g0176	3	362	0.0083	20	c.265 others(37): Show c.265+2258_265+2259insGTGTGTGTGTGTGTGTGTGT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4441983	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG02109.hp1 others(3): Show HG00639.hp2 HG01074.hp2 HG02109.hp1 HG03669.hp1 NA18943.hp2 NA20905.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0009 a0001c0047 a0002c0022 others(2): Show a0001c0009 a0001c0047 a0002c0022 a0002c0041 a0010c0052	a0001c0009t0001 a0001c0047t0003 a0002c0022t0001 others(2): Show a0001c0009t0001 a0001c0047t0003 a0002c0022t0001 a0002c0041t0001 a0010c0052t0001	a0001c0009t0001g0005 a0001c0009t0001g0058 a0001c0047t0003g0152 others(3): Show a0001c0009t0001g0005 a0001c0009t0001g0058 a0001c0047t0003g0152 a0002c0022t0001g0059 a0002c0041t0001g0313 a0010c0052t0001g0060	6	362	0.0166	20	c.265 others(37): Show c.265+2275_265+2294dupGTGTGTGTGTGTGTGTGTGT	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(13): Show CCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0048 a0001c0012t0001g0048	1	362	0.0028	20	c.111 others(39): Show c.1113+5386_1113+5387insCCTTCCTTCCTTCCTTTCTT	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(13): Show CCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0022 a0001c0009t0002g0022	1	362	0.0028	20	c.111 others(39): Show c.1113+5386_1113+5387insCCTTCCTTCCTTTCTTTCTT	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(13): Show CCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0003 a0001c0037t0003	a0001c0037t0003g0146 a0001c0037t0003g0146	1	362	0.0028	20	c.111 others(39): Show c.1113+5386_1113+5387insCCTTCCTTTCTTTCTTTCTT	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(13): Show CCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01433.hp1 HG02055.hp2 others(3): Show HG01169.hp2 HG01433.hp1 HG02055.hp2 HG02056.hp2 HG02818.hp1 NA18982.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0003 a0003c0008 others(2): Show a0001c0001 a0001c0003 a0003c0008 a0004c0017 a0006c0026	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0003c0008t0003 a0004c0017t0002 a0006c0026t0001	a0001c0001t0001g0209 a0001c0001t0002g0162 a0001c0003t0002g0138 others(3): Show a0001c0001t0001g0209 a0001c0001t0002g0162 a0001c0003t0002g0138 a0003c0008t0003g0176 a0004c0017t0002g0331 a0006c0026t0001g0242	6	362	0.0166	20	c.111 others(39): Show c.1113+5386_1113+5387insCCTTTCTTTCTTTCTTTCTT	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(13): Show TATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp2 HG02559.hp1 others(7): Show HG01074.hp1 HG02257.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02886.hp2 HG02895.hp1 HG03130.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0054	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0054t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0149 a0001c0001t0002g0317 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0004t0001g0024 a0001c0006t0001g0077 a0001c0006t0002g0039 a0001c0054t0002g0063	10	362	0.0276	20	c.111 others(39): Show c.1113+9612_1113+9631dupCCATCCATCCATCCATCCAT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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