Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OR9Q1_chr11_58018881_58186616	58034769	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCTTTCTCCCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00642.hp2 others(10): Show HG00280.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG02074.hp2 HG02257.hp2 HG03654.hp1 NA18945.hp2 NA18959.hp2 NA18986.hp2 NA19001.hp2 NA19010.hp1 NA19085.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0005c0006 a0001c0002 a0002c0003 a0005c0006	a0001c0002t0001 a0002c0003t0001 a0005c0006t0001 a0001c0002t0001 a0002c0003t0001 a0005c0006t0001	a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 others(10): Show a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0211 a0001c0002t0001g0224 a0001c0002t0001g0242 a0002c0003t0001g0199 a0002c0003t0001g0305 a0005c0006t0001g0236	13	324	0.0401	44	c.-93 others(63): Show c.-93+10666_-93+10667insCTTCCTTCCTTCCTTCTTCCTTCCCT CCCTCCTTTCTCCCTTCC	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBP2_chr22_30689874_30912813	30730774	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	268	0.0037	44	c.645 others(63): Show c.645-10386_645-10385insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTAT	OSBP2	ENSG00000184792.16	transcript	ENST00000332585.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
OSBPL10_chr3_31655825_31986262	31740857	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0077 a0002c0004t0002g0077	1	186	0.0054	44	c.940 others(61): Show c.940+7052_940+7053insTATATATATATATATATATATATATATA TATATATATATATATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31740857	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	186	0.0054	44	c.940 others(61): Show c.940+7052_940+7053insTATATATATATATATATATATATATATA TATATATATATATAAA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0001 a0004c0033t0001	a0004c0033t0001g0110 a0004c0033t0001g0110	1	186	0.0054	44	c.730 others(63): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812718	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0004 a0003c0017t0001g0004	1	186	0.0054	44	c.729 others(63): Show c.729+17278_729+17321dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL6_chr2_178189512_178407893	178235351	A A	ATTTCTTT others(37): Show ATTTCTTTTTTTTTTCCTTTTTCTTTCTTTCCTTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0132 a0001c0001t0006g0132	1	200	0.0050	44	c.-35 others(65): Show c.-351+40680_-351+40723dupTCTTTTTTTTTTCCTTTTTCTTTC TTTCCTTTTTCTTTTCTTTT	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(37): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	443	0.0023	44	c.52 others(55): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54101538	T T	TCAGATAG others(37): Show TCAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	443	0.0023	44	c.-74 others(53): Show c.-747_-746insTCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTATCTG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		736		chr19	TogoVar
OSGIN1_chr16_83948240_83971332	83950368	T T	TGAGCACA others(37): Show TGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02486.hp2 HG03041.hp2 HG01433.hp2 HG02486.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0024 a0001c0003t0004g0063 a0001c0003t0004g0024 a0001c0003t0004g0063	3	350	0.0086	44	c.-30 others(55): Show c.-3035_-3034insGAGCACATGTGCACACATGCACATACATACTGGC ACACGTACAC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2871		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950419	A A	ACATGCAC others(37): Show ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02451.hp1 others(4): Show HG01884.hp2 HG02280.hp2 HG02451.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0004g0029 a0001c0002t0004g0147 a0001c0002t0004g0148 others(3): Show a0001c0002t0004g0029 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0003t0001g0146	7	350	0.0200	44	c.-29 others(55): Show c.-2984_-2983insCATGCACACATGAGCACATGTGCACACATGCACA TACATACTGG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2820		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950488	T T	TGAGCACA others(37): Show TGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02109.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0222 a0001c0002t0007g0199 a0001c0002t0003g0222 a0001c0002t0007g0199	2	350	0.0057	44	c.-29 others(55): Show c.-2915_-2914insGAGCACATGTGCACACATGCACATACATACTGGC ACACGTACAC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2751		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139027	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	366	0.0027	44	c.487 others(61): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31547075	A A	AGAGATGA others(37): Show AGAGATGACTCTAAGAGAAAAGACAGCTGGAAGCTGCTTGAACCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00741.hp2 others(27): Show HG00621.hp1 HG00642.hp2 HG00741.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02155.hp1 HG02602.hp1 HG02602.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18954.hp1 NA18960.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp2 NA18995.hp1 NA19005.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0007 a0002c0008	a0001c0001t0002 a0001c0001t0065 a0001c0002t0001 others(10): Show a0001c0001t0002 a0001c0001t0065 a0001c0002t0001 a0001c0002t0022 a0001c0002t0036 a0001c0002t0047 a0001c0002t0053 a0002c0003t0008 a0002c0005t0038 a0002c0007t0003 a0002c0007t0008 a0002c0008t0009 a0002c0008t0017	a0001c0001t0002g0203 a0001c0001t0065g0058 a0001c0002t0001g0031 others(27): Show a0001c0001t0002g0203 a0001c0001t0065g0058 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0099 a0001c0002t0001g0114 a0001c0002t0001g0129 a0001c0002t0001g0160 a0001c0002t0001g0175 a0001c0002t0001g0184 a0001c0002t0022g0050 a0001c0002t0036g0119 a0001c0002t0047g0048 a0001c0002t0053g0226 a0002c0003t0008g0040 a0002c0005t0038g0079 a0002c0007t0003g0059 a0002c0007t0008g0042 a0002c0007t0008g0062 a0002c0008t0009g0084 a0002c0008t0017g0090	30	244	0.1230	44	c.550 others(63): Show c.550+11850_550+11893dupAGGTTCAAGCAGCTTCCAGCTGTCTT TTCTCTTAGAGTCATCTC	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	5/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(37): Show GATAAATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18980.hp1 NA18989.hp2 NA18950.hp1 NA18980.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0038 a0001c0002t0001 a0002c0005t0038	a0001c0002t0001g0031 a0001c0002t0001g0036 a0002c0005t0038g0079 a0001c0002t0001g0031 a0001c0002t0001g0036 a0002c0005t0038g0079	3	244	0.0123	44	c.-10 others(63): Show c.-100+9884_-100+9885insATATATATATATATATATATATATAT ATATATATGTATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OXTR_chr3_8745381_8774613	8773182	A A	ATATAATC others(37): Show ATATAATCTATATATATCTATATATAATCTATATATATCTATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	474	0.0021	44	c.-41 others(55): Show c.-4191_-4190insGATATAGATATATATAGATTATATATAGATATAT ATAGATTATA	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3570		chr3	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0233 a0001c0004t0001g0233	1	388	0.0026	44	c.134 others(61): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT ATATATATTTTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130820	A A	AGAAAGAA others(37): Show AGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG02293.hp2 others(9): Show HG01884.hp2 HG02015.hp2 HG02293.hp2 HG02698.hp2 HG02965.hp2 NA18964.hp1 NA18975.hp2 NA19004.hp2 NA19005.hp1 NA19060.hp2 NA19088.hp2 NA19091.hp1	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0008 a0017	a0002c0002 a0005c0006 a0007c0008 others(2): Show a0002c0002 a0005c0006 a0007c0008 a0008c0007 a0017c0020	a0002c0002t0001 a0002c0002t0035 a0005c0006t0001 others(3): Show a0002c0002t0001 a0002c0002t0035 a0005c0006t0001 a0007c0008t0001 a0008c0007t0002 a0017c0020t0002	a0002c0002t0001g0285 a0002c0002t0001g0292 a0002c0002t0001g0313 others(9): Show a0002c0002t0001g0285 a0002c0002t0001g0292 a0002c0002t0001g0313 a0002c0002t0001g0333 a0002c0002t0035g0343 a0005c0006t0001g0289 a0005c0006t0001g0351 a0007c0008t0001g0293 a0007c0008t0001g0348 a0008c0007t0002g0316 a0008c0007t0002g0320 a0017c0020t0002g0322	12	366	0.0328	44	c.-21 others(55): Show c.-2151_-2150insGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAA AGAAAGAAAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2055		chr12	TogoVar
P2RY8_chrX_1457581_1542185	1509741	G G	GTATCTAT others(37): Show GTATCTATCTATGTATCTATGTATCTATCTATGTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	114	0.0088	44	c.-25 others(63): Show c.-25+27179_-25+27180insGATAGATAGATACATAGATAGATACA TAGATACATAGATAGATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189964971	G G	GTGTCTCA others(37): Show GTGTCTCATGTGAGTAGAATCCATTTTGTCTTTCTTGGGAAATAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0091 a0007c0010t0001g0091	1	304	0.0033	44	c.189 others(61): Show c.1894-917_1894-874dupGTATTTCCCAAGAAAGACAAAATGGATT CTACTCACATGAGACA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P4HA2_chr5_132185147_132232853	132185794	C C	CTTTTCCA others(37): Show CTTTTCCACCCTTATATACACACCTGCTGTATTTGTCCAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	426	0.0024	44	c.72 others(55): Show c.7215_*7216insTATAATTGGACAAATACAGCAGGTGTGTATATAA GGGTGGAAAA	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding		4352		chr5	TogoVar
PADI1_chr1_17200128_17251007	17235277	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00621.hp2 others(11): Show HG00099.hp1 HG00438.hp1 HG00621.hp2 HG01168.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG02717.hp2 HG02818.hp1 HG03492.hp2 HG04199.hp2 NA18994.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0003c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0003c0012t0001	a0001c0001t0001g0202 a0001c0002t0001g0244 a0001c0002t0001g0268 others(11): Show a0001c0001t0001g0202 a0001c0002t0001g0244 a0001c0002t0001g0268 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0313 a0001c0002t0001g0320 a0001c0004t0001g0089 a0001c0004t0001g0093 a0001c0004t0001g0247 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0006t0001g0114 a0003c0012t0001g0069	14	406	0.0345	44	c.131 others(63): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGGAAGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235281	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp2 HG02723.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0005g0229 a0001c0001t0001g0029 a0001c0001t0005g0229	2	406	0.0049	44	c.131 others(63): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGGAGGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235289	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0347 a0001c0002t0017g0347	1	406	0.0025	44	c.131 others(63): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAGGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352005	A A	ATGGGAGG others(37): Show ATGGGAGGTGGTAGGAGAGACTGTGGTCAGAGAGGTGATGGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02630.hp2 others(1): Show HG01884.hp2 HG02055.hp1 HG02630.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0347 a0001c0005t0001g0348 a0001c0005t0001g0350 others(1): Show a0001c0005t0001g0347 a0001c0005t0001g0348 a0001c0005t0001g0350 a0001c0005t0001g0352	4	372	0.0108	44	c.115 others(63): Show c.1156-2521_1156-2520insTGGTAGGAGAGACTGTGGTCAGAGAG GTGATGGGAGGTGGGAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352009	G G	GAGGTGGT others(37): Show GAGGTGGTAGGAGAGACTGTGGTCAGAGAGGTGATGGGAGGCAGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18968.hp2 NA19002.hp2 others(2): Show NA18953.hp1 NA18968.hp2 NA19002.hp2 NA19009.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0205 a0002c0004t0001g0004 a0002c0004t0001g0190 others(1): Show a0002c0002t0001g0205 a0002c0004t0001g0004 a0002c0004t0001g0190 a0002c0004t0001g0197	5	372	0.0134	44	c.115 others(63): Show c.1156-2521_1156-2520insTGGTAGGAGAGACTGTGGTCAGAGAG GTGATGGGAGGCAGTAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352036	G G	GAGGTGGT others(37): Show GAGGTGGTAGGAGAGACTGTGGTCAGAGAGGTGATGGGAGGCAGT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	372	0.0027	44	c.115 others(63): Show c.1156-2494_1156-2493insTGGTAGGAGAGACTGTGGTCAGAGAG GTGATGGGAGGCAGTAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAGE1_chrX_49682447_49700984	49690091	G G	GTATATAT others(37): Show GTATATATGTGTATATATACACATATATATGTGTATATATACACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	322	0.0031	44	c.293 others(59): Show c.293-592_293-549dupTGTGTATATATACACATATATATGTGTATA TATACACATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(37): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0027 a0006c0008t0027	a0006c0008t0027g0235 a0006c0008t0027g0235	1	308	0.0033	44	c.-29 others(63): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168625500	G G	GAGATAGA others(37): Show GAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03490.hp1 HG03491.hp1 others(4): Show HG02602.hp2 HG03490.hp1 HG03491.hp1 HG03669.hp2 NA18989.hp1 NA19074.hp2 NA19077.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0019 others(2): Show a0001c0001 a0001c0004 a0001c0019 a0002c0007 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0019t0006 a0002c0007t0014 a0006c0020t0001	a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0002g0136 others(4): Show a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0002g0136 a0001c0004t0002g0108 a0001c0019t0006g0118 a0002c0007t0014g0030 a0006c0020t0001g0024	7	156	0.0449	44	c.909 others(63): Show c.909-42685_909-42684insGATAGATAGATAGATAGATAGATAGA TAGATAGATAGATAGATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(37): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0076 a0003c0005t0001g0076	1	156	0.0064	44	c.909 others(63): Show c.909-42685_909-42684insGATAGATAGATAGATAGATAGATAGA TAGATAGATAGATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(37): Show GATAGATAGATAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0006 a0003c0013t0006	a0003c0013t0006g0121 a0003c0013t0006g0121	1	156	0.0064	44	c.909 others(63): Show c.909-42685_909-42684insGATAGATAGATATATATATATATATA TATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20752.hp2 HG01243.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0036 a0002c0004t0002 a0001c0001t0036 a0002c0004t0002	a0001c0001t0036g0203 a0002c0004t0002g0093 a0001c0001t0036g0203 a0002c0004t0002g0093	2	222	0.0090	44	c.583 others(63): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 NA20300.hp1 HG03490.hp2 HG03492.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0135 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0002g0135 a0001c0001t0010g0017 a0001c0001t0010g0018	3	222	0.0135	44	c.583 others(59): Show c.583-962_583-961insAAAAAAAAAATATATATATATATATATATA TATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(37): Show AAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	222	0.0045	44	c.583 others(59): Show c.583-962_583-961insAAAAAATATATATATATATATATATATATA TATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM_chr19_703935_753329	731590	A A	AGCAGCAG others(37): Show AGCAGCAGGAGACCCACCTGGGGGCATCAGAAGGTCTCAGGGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(126): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp2 NA18997.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0001c0003 a0002c0001 others(6): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0008 a0004c0012 a0005c0011	a0001c0002t0001 a0001c0002t0002 a0001c0003t0006 others(21): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0006 a0002c0001t0007 a0002c0001t0008 a0002c0001t0012 a0002c0001t0020 a0002c0001t0030 a0002c0005t0003 a0002c0005t0004 a0002c0005t0019 a0002c0005t0029 a0002c0006t0001 a0002c0006t0006 a0002c0006t0008 a0002c0007t0004 a0002c0008t0002 a0004c0012t0001 a0005c0011t0001	a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0262 others(121): Show a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0361 a0001c0003t0006g0241 a0002c0001t0001g0012 a0002c0001t0001g0044 a0002c0001t0001g0050 a0002c0001t0001g0056 a0002c0001t0001g0068 a0002c0001t0001g0099 a0002c0001t0001g0137 a0002c0001t0001g0151 a0002c0001t0001g0153 a0002c0001t0001g0165 a0002c0001t0001g0169 a0002c0001t0001g0202 a0002c0001t0001g0283 a0002c0001t0001g0297 a0002c0001t0001g0303 a0002c0001t0001g0309 a0002c0001t0001g0319 a0002c0001t0001g0333 a0002c0001t0001g0348 a0002c0001t0002g0002 a0002c0001t0002g0008 a0002c0001t0002g0022 a0002c0001t0002g0036 a0002c0001t0002g0038 a0002c0001t0002g0041 a0002c0001t0002g0042 a0002c0001t0002g0048 a0002c0001t0002g0057 a0002c0001t0002g0061 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0066 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0084 a0002c0001t0002g0148 a0002c0001t0002g0156 a0002c0001t0002g0160 a0002c0001t0002g0161 a0002c0001t0002g0162 a0002c0001t0002g0168 a0002c0001t0002g0170 a0002c0001t0002g0171 a0002c0001t0002g0174 a0002c0001t0002g0175 a0002c0001t0002g0177 a0002c0001t0002g0178 a0002c0001t0002g0179 a0002c0001t0002g0207 a0002c0001t0002g0208 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0240 a0002c0001t0002g0285 a0002c0001t0002g0323 a0002c0001t0002g0324 a0002c0001t0002g0327 a0002c0001t0002g0341 a0002c0001t0002g0343 a0002c0001t0002g0366 a0002c0001t0002g0380 a0002c0001t0002g0384 a0002c0001t0004g0124 a0002c0001t0004g0284 a0002c0001t0004g0312 a0002c0001t0004g0338 a0002c0001t0004g0339 a0002c0001t0004g0377 a0002c0001t0005g0089 a0002c0001t0006g0095 a0002c0001t0007g0273 a0002c0001t0007g0276 a0002c0001t0008g0023 a0002c0001t0012g0249 a0002c0001t0020g0332 a0002c0001t0030g0096 a0002c0005t0003g0077 a0002c0005t0003g0120 a0002c0005t0003g0121 a0002c0005t0003g0147 a0002c0005t0003g0166 a0002c0005t0003g0181 a0002c0005t0003g0232 a0002c0005t0003g0244 a0002c0005t0003g0288 a0002c0005t0003g0301 a0002c0005t0003g0304 a0002c0005t0003g0310 a0002c0005t0003g0311 a0002c0005t0003g0316 a0002c0005t0003g0344 a0002c0005t0003g0345 a0002c0005t0004g0158 a0002c0005t0019g0176 a0002c0005t0029g0315 a0002c0006t0001g0173 a0002c0006t0001g0206 a0002c0006t0006g0279 a0002c0006t0006g0280 a0002c0006t0008g0024 a0002c0007t0004g0073 a0002c0007t0004g0146 a0002c0007t0004g0159 a0002c0007t0004g0163 a0002c0007t0004g0196 a0002c0007t0004g0228 a0002c0008t0002g0040 a0002c0008t0002g0067 a0002c0008t0002g0172 a0002c0008t0002g0307 a0004c0012t0001g0364 a0005c0011t0001g0308	129	404	0.3193	44	c.420 others(59): Show c.420+345_420+346insGCAGCAGGAGACCCACCTGGGGGCATCAGA AGGTCTCAGGGAGC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	5/8			chr19	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	372	0.0027	44	c.28- others(59): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT ATATGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp2 NA18997.hp1 others(1): Show HG01981.hp2 HG02004.hp2 NA18997.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017	a0001c0001t0002g0105 a0001c0001t0002g0285 a0001c0001t0006g0284 others(1): Show a0001c0001t0002g0105 a0001c0001t0002g0285 a0001c0001t0006g0284 a0001c0001t0017g0239	4	372	0.0108	44	c.28- others(59): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT ATGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18963.hp1 HG02738.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0145 a0001c0002t0006g0009 a0001c0001t0002g0145 a0001c0002t0006g0009	2	372	0.0054	44	c.28- others(59): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT GTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0299	1	372	0.0027	44	c.28- others(59): Show c.28-3087_28-3086insATATATATATATATATATATATATATATGT GTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(37): Show ATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	372	0.0027	44	c.28- others(59): Show c.28-3087_28-3086insATATATATATATATATATATGTGTGTGTGT GTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD3B_chr2_204540475_205625162	205383139	G G	GATAGAGA others(37): Show GATAGAGAGATAGATAGATAGATAGATAGATAGATAGATAGATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0037 a0001c0016t0002g0037	1	54	0.0185	44	c.263 others(65): Show c.2631-17872_2631-17871insAGAGAGATAGATAGATAGATAGAT AGATAGATAGATAGATAAAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0352 a0001c0002t0001g0352	1	382	0.0026	44	c.295 others(61): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(37): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03579.hp1 HG01243.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0112 a0001c0002t0005g0061 a0001c0002t0002g0112 a0001c0002t0005g0061	2	221	0.0091	44	c.-10 others(55): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGGGGGGGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PATJ_chr1_61737480_62168915	61871485	G G	GTATATAT others(37): Show GTATATATGTATATACACATATATGCGTATATATGTATATACACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0038 a0003c0009t0011g0038	1	158	0.0063	44	c.283 others(63): Show c.2836-3744_2836-3743insCACATATATGCGTATATATGTATATA CACATATATATGTATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61871485	G G	GTATATAT others(37): Show GTATATATGTATATACATATATATGCGTATATATGTATATACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00639.hp2 others(57): Show HG00280.hp2 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG04204.hp1 NA18983.hp1 NA18999.hp1 NA19030.hp2 NA19060.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0017 a0018 a0020 a0021 a0022 a0025 a0026 a0028 a0030 a0031 a0038 a0039 a0046 a0047 a0051 a0052 a0053 a0055 a0062	a0001c0001 a0001c0008 a0001c0046 others(52): Show a0001c0001 a0001c0008 a0001c0046 a0001c0088 a0002c0012 a0002c0029 a0002c0049 a0002c0095 a0002c0106 a0003c0003 a0004c0045 a0004c0056 a0005c0006 a0005c0013 a0005c0031 a0005c0050 a0006c0113 a0006c0114 a0007c0117 a0007c0124 a0008c0016 a0008c0017 a0009c0052 a0009c0054 a0010c0005 a0010c0023 a0010c0025 a0012c0007 a0012c0084 a0013c0004 a0014c0002 a0016c0036 a0016c0110 a0017c0032 a0017c0033 a0018c0010 a0020c0127 a0021c0112 a0021c0118 a0022c0018 a0025c0082 a0025c0083 a0026c0134 a0028c0136 a0030c0075 a0031c0130 a0038c0037 a0039c0109 a0046c0053 a0047c0108 a0051c0066 a0052c0111 a0053c0067 a0055c0073 a0062c0080	a0001c0001t0002 a0001c0001t0010 a0001c0008t0016 others(55): Show a0001c0001t0002 a0001c0001t0010 a0001c0008t0016 a0001c0046t0016 a0001c0088t0010 a0002c0012t0010 a0002c0029t0001 a0002c0049t0004 a0002c0095t0002 a0002c0106t0012 a0003c0003t0004 a0003c0003t0017 a0004c0045t0002 a0004c0056t0002 a0005c0006t0001 a0005c0013t0015 a0005c0031t0015 a0005c0050t0026 a0006c0113t0003 a0006c0114t0002 a0007c0117t0002 a0007c0124t0001 a0008c0016t0003 a0008c0017t0004 a0009c0052t0003 a0009c0054t0004 a0010c0005t0001 a0010c0005t0018 a0010c0023t0007 a0010c0025t0001 a0012c0007t0003 a0012c0084t0002 a0013c0004t0001 a0014c0002t0003 a0016c0036t0028 a0016c0110t0002 a0017c0032t0005 a0017c0033t0006 a0018c0010t0004 a0020c0127t0008 a0021c0112t0024 a0021c0118t0003 a0022c0018t0004 a0025c0082t0001 a0025c0083t0002 a0026c0134t0002 a0028c0136t0013 a0030c0075t0003 a0031c0130t0001 a0038c0037t0005 a0039c0109t0001 a0046c0053t0002 a0047c0108t0001 a0051c0066t0001 a0052c0111t0021 a0053c0067t0003 a0055c0073t0004 a0062c0080t0003	a0001c0001t0002g0076 a0001c0001t0010g0014 a0001c0008t0016g0047 others(57): Show a0001c0001t0002g0076 a0001c0001t0010g0014 a0001c0008t0016g0047 a0001c0046t0016g0106 a0001c0088t0010g0016 a0002c0012t0010g0150 a0002c0029t0001g0138 a0002c0049t0004g0029 a0002c0095t0002g0030 a0002c0106t0012g0104 a0003c0003t0004g0093 a0003c0003t0017g0015 a0004c0045t0002g0081 a0004c0056t0002g0125 a0005c0006t0001g0044 a0005c0013t0015g0156 a0005c0031t0015g0119 a0005c0050t0026g0082 a0006c0113t0003g0055 a0006c0114t0002g0157 a0007c0117t0002g0060 a0007c0124t0001g0003 a0008c0016t0003g0153 a0008c0017t0004g0059 a0009c0052t0003g0088 a0009c0054t0004g0127 a0010c0005t0001g0129 a0010c0005t0018g0107 a0010c0023t0007g0072 a0010c0025t0001g0140 a0012c0007t0003g0063 a0012c0084t0002g0035 a0013c0004t0001g0028 a0014c0002t0003g0084 a0014c0002t0003g0091 a0016c0036t0028g0145 a0016c0110t0002g0134 a0017c0032t0005g0146 a0017c0033t0006g0120 a0018c0010t0004g0037 a0020c0127t0008g0024 a0021c0112t0024g0006 a0021c0118t0003g0021 a0022c0018t0004g0054 a0022c0018t0004g0062 a0025c0082t0001g0039 a0025c0083t0002g0050 a0026c0134t0002g0105 a0028c0136t0013g0099 a0030c0075t0003g0089 a0031c0130t0001g0056 a0038c0037t0005g0135 a0039c0109t0001g0133 a0046c0053t0002g0058 a0047c0108t0001g0132 a0051c0066t0001g0131 a0052c0111t0021g0073 a0053c0067t0003g0110 a0055c0073t0004g0078 a0062c0080t0003g0032	60	158	0.3798	44	c.283 others(63): Show c.2836-3744_2836-3743insCATATATATGCGTATATATGTATATA CACATATATATGTATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61871485	G G	GTATATAT others(37): Show GTATATATGTATATACATATATATGTGTATATATGTATATACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(56): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01257.hp1 HG01257.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18993.hp1 NA18999.hp2 NA19056.hp1 NA19060.hp2 NA20129.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0018 a0019 a0023 a0024 a0032 a0033 a0036 a0040 a0041 a0042 a0045 a0048 a0049 a0050 a0054 a0056 a0058 a0061 a0063	a0001c0001 a0001c0008 a0001c0021 others(54): Show a0001c0001 a0001c0008 a0001c0021 a0001c0024 a0001c0026 a0001c0048 a0001c0058 a0001c0059 a0001c0092 a0001c0093 a0002c0030 a0002c0094 a0003c0099 a0003c0100 a0004c0011 a0004c0101 a0004c0102 a0005c0013 a0006c0014 a0006c0040 a0006c0068 a0006c0070 a0007c0042 a0007c0122 a0007c0123 a0008c0016 a0008c0017 a0008c0041 a0008c0069 a0009c0096 a0009c0097 a0011c0126 a0012c0007 a0012c0079 a0013c0004 a0013c0062 a0014c0002 a0018c0010 a0019c0116 a0023c0120 a0023c0121 a0024c0043 a0032c0131 a0033c0132 a0036c0019 a0040c0035 a0041c0103 a0042c0027 a0045c0065 a0048c0063 a0049c0034 a0050c0044 a0054c0129 a0056c0074 a0058c0086 a0061c0078 a0063c0081	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0021t0001 a0001c0024t0001 a0001c0026t0001 a0001c0048t0009 a0001c0058t0002 a0001c0059t0009 a0001c0092t0006 a0001c0093t0004 a0002c0030t0005 a0002c0094t0002 a0003c0099t0006 a0003c0100t0003 a0004c0011t0001 a0004c0101t0017 a0004c0102t0002 a0005c0013t0001 a0006c0014t0004 a0006c0040t0023 a0006c0068t0011 a0006c0070t0019 a0007c0042t0005 a0007c0122t0002 a0007c0123t0001 a0008c0016t0003 a0008c0017t0012 a0008c0041t0005 a0008c0069t0003 a0009c0096t0003 a0009c0097t0034 a0011c0126t0002 a0012c0007t0002 a0012c0079t0003 a0013c0004t0001 a0013c0062t0001 a0014c0002t0003 a0018c0010t0004 a0019c0116t0002 a0023c0120t0012 a0023c0121t0002 a0024c0043t0030 a0032c0131t0004 a0033c0132t0003 a0036c0019t0001 a0040c0035t0022 a0041c0103t0020 a0042c0027t0018 a0045c0065t0033 a0048c0063t0027 a0049c0034t0005 a0050c0044t0006 a0054c0129t0002 a0056c0074t0019 a0058c0086t0013 a0061c0078t0004 a0063c0081t0031	a0001c0001t0001g0019 a0001c0001t0002g0151 a0001c0008t0001g0067 others(56): Show a0001c0001t0001g0019 a0001c0001t0002g0151 a0001c0008t0001g0067 a0001c0021t0001g0113 a0001c0024t0001g0139 a0001c0026t0001g0116 a0001c0048t0009g0080 a0001c0058t0002g0095 a0001c0059t0009g0045 a0001c0092t0006g0158 a0001c0093t0004g0051 a0002c0030t0005g0121 a0002c0094t0002g0002 a0003c0099t0006g0009 a0003c0100t0003g0008 a0004c0011t0001g0012 a0004c0101t0017g0098 a0004c0102t0002g0031 a0005c0013t0001g0103 a0006c0014t0004g0053 a0006c0014t0004g0148 a0006c0040t0023g0123 a0006c0068t0011g0097 a0006c0070t0019g0025 a0007c0042t0005g0136 a0007c0122t0002g0064 a0007c0123t0001g0017 a0008c0016t0003g0005 a0008c0017t0012g0022 a0008c0041t0005g0124 a0008c0069t0003g0077 a0009c0096t0003g0010 a0009c0097t0034g0052 a0011c0126t0002g0026 a0012c0007t0002g0036 a0012c0079t0003g0149 a0013c0004t0001g0115 a0013c0062t0001g0102 a0014c0002t0003g0090 a0018c0010t0004g0034 a0019c0116t0002g0069 a0023c0120t0012g0061 a0023c0121t0002g0068 a0024c0043t0030g0083 a0032c0131t0004g0086 a0033c0132t0003g0027 a0036c0019t0001g0141 a0040c0035t0022g0117 a0041c0103t0020g0074 a0042c0027t0018g0144 a0045c0065t0033g0043 a0048c0063t0027g0100 a0049c0034t0005g0122 a0050c0044t0006g0071 a0054c0129t0002g0147 a0056c0074t0019g0041 a0058c0086t0013g0013 a0061c0078t0004g0070 a0063c0081t0031g0040	59	158	0.3734	44	c.283 others(63): Show c.2836-3744_2836-3743insCATATATATGTGTATATATGTATATA CACATATATATGTATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61871495	A A	ATATACAT others(37): Show ATATACATATATATGCGTATATATGTATATACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0008 a0008	a0008c0119 a0008c0119	a0008c0119t0009 a0008c0119t0009	a0008c0119t0009g0154 a0008c0119t0009g0154	1	158	0.0063	44	c.283 others(63): Show c.2836-3744_2836-3743insCATATATATGCGTATATATGTATATA CACATATATATGTGTATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(37): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0114 a0006c0114	a0006c0114t0002 a0006c0114t0002	a0006c0114t0002g0157 a0006c0114t0002g0157	1	158	0.0063	44	c.367 others(65): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTTTAT others(37): Show TTTTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0026 a0026	a0026c0134 a0026c0134	a0026c0134t0002 a0026c0134t0002	a0026c0134t0002g0105 a0026c0134t0002g0105	1	158	0.0063	44	c.386 others(63): Show c.3867+7619_3867+7620insTTTTATATATATATATATATATATAT ATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar

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