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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PARD3B_chr2_204540475_205625162	205057325	TATGTATA others(92): Show TATGTATATGTGTTATATACATATACATATATACATGTATATGTGTTATA TACATATACATATATACATGTATATGTGTTATATACATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0004 a0004c0026t0004	a0004c0026t0004g0041 a0004c0026t0004g0041	1	54	0.0185	-99	c.504 others(116): Show c.504+9690_504+9788delATACATATATACATGTATATGTGTTATA TACATATACATATATACATGTATATGTGTTATATACATATACATATATAC ATGTATATGTGTTATATACAT		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PCGF3_chr4_700832_775089	731949	CCCCTCCC others(92): Show CCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0005 a0002c0002t0046g0005	1	366	0.0027	-99	c.-10 others(114): Show c.-10+842_-10+940delCTCCCCTCGTGGGTGGGCGTGGTCCTCAGG GGCGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGG GCGTAGGGCGGGGCTCTCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101334169	CGACACAG others(92): Show CGACACAGGAAGTTGTTCTCACCGCTGCAGCAGTGACACAGGAAGTTGTT CTCACCGCTGCAGCAGTGACACAGGAAGTTGTTCTCACCGCTGCAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00733.hp1 others(41): Show HG00323.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG06807.hp2 NA18941.hp1 NA18967.hp2 NA18983.hp2 NA19002.hp1 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 others(3): Show a0001 a0002 a0012 a0015 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0036 a0001c0037 a0001c0059 a0001c0061 a0002c0008 a0002c0016 a0002c0018 a0012c0055 a0015c0040 a0018c0066 a0019c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0006 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0036t0001 a0001c0037t0002 a0001c0059t0001 a0001c0061t0001 a0002c0008t0001 a0002c0016t0001 a0002c0018t0001 a0002c0018t0013 a0012c0055t0001 a0015c0040t0003 a0018c0066t0002 a0019c0033t0001	a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0260 others(41): Show a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0002g0201 a0001c0001t0009g0295 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0275 a0001c0003t0001g0066 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0109 a0001c0003t0001g0136 a0001c0004t0001g0065 a0001c0004t0001g0114 a0001c0005t0001g0193 a0001c0005t0001g0274 a0001c0006t0001g0082 a0001c0007t0006g0070 a0001c0009t0001g0160 a0001c0009t0001g0208 a0001c0009t0001g0237 a0001c0011t0001g0300 a0001c0012t0001g0102 a0001c0036t0001g0110 a0001c0037t0002g0063 a0001c0059t0001g0308 a0001c0061t0001g0309 a0002c0008t0001g0015 a0002c0008t0001g0018 a0002c0008t0001g0022 a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 a0002c0018t0001g0017 a0002c0018t0013g0031 a0012c0055t0001g0153 a0015c0040t0003g0101 a0018c0066t0002g0323 a0019c0033t0001g0028	44	336	0.1310	-99	c.185 others(118): Show c.1859-2237_1859-2139delACTGCTGCAGCGGTGAGAACAACTTC CTGTGTCACTGCTGCAGCGGTGAGAACAACTTCCTGTGTCACTGCTGCAG CGGTGAGAACAACTTCCTGTGTC		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21						chr15	TogoVar
PERM1_chr1_970198_987093	977494	TCCCGCTC others(92): Show TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0042 a0004c0004t0002g0042	1	408	0.0025	-99	c.215 others(116): Show c.2150-969_2150-871delGGGAGGCGGTTCCCGGGGTTGGTGGGGG GAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCC GGGGTTGGTGGGGGGAGCGGG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PIGN_chr18_62036164_62192056	62040069	GCCCCATC others(92): Show GCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCC GCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0191 a0001c0019t0001g0191	1	342	0.0029	-99	c.56 others(110): Show c.5688_*5786delGCCCTAAACATGAGTTGCGGCACCCTGGCTGGGC CCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCG GCATCGTCGATGGGG		PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding					1094		chr18	TogoVar
PIK3R5_chr17_8873916_8970707	8885604	CCTAGGTA others(92): Show CCTAGGTAACCCCGCCCCCCCATGGCCCCACCTCCTGGGTAACCCCGCCT CCCCAGGGCCCCGCCTCCCCATGGCCCTGCCTCCTAGGTAACCCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 NA18522.hp2 HG02572.hp2 HG02647.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0011 a0001c0004t0001 a0001c0004t0011	a0001c0004t0001g0093 a0001c0004t0001g0218 a0001c0004t0011g0260 a0001c0004t0001g0093 a0001c0004t0001g0218 a0001c0004t0011g0260	3	298	0.0101	-99	c.212 others(116): Show c.2128+526_2128+624delAGGGCGGGGTTACCTAGGAGGCAGGGCC ATGGGGAGGCGGGGCCCTGGGGAGGCGGGGTTACCCAGGAGGTGGGGCCA TGGGGGGGCGGGGTTACCTAG		PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18						chr17	TogoVar
PIKFYVE_chr2_208261255_208363746	208360073	ATTTTTAA others(92): Show ATTTTTAAAAACGGAGAGTTTTTAAAAATGATTTTTTTCCCTCGAAAATG ACCTTTTTATGCTTCGAAGCAGTTTGTCACCAGCATAGTGCTTTTTCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	288	0.0035	-99	c.47 others(110): Show c.4769_*4867delTTTTTAAAAACGGAGAGTTTTTAAAAATGATTTT TTTCCCTCGAAAATGACCTTTTTATGCTTCGAAGCAGTTTGTCACCAGCA TAGTGCTTTTTCTTT		PIKFYVE	ENSG00000115020.17	transcript	ENST00000264380.9	protein_coding					1328		chr2	TogoVar
PKD2L1_chr10_100283149_100335228	100314965	AGGAAGGA others(92): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19000.hp1 NA19002.hp2 others(1): Show NA18991.hp1 NA19000.hp1 NA19002.hp2 NA19056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0123 a0002c0003t0001g0149 a0002c0003t0001g0159 others(1): Show a0002c0003t0001g0123 a0002c0003t0001g0149 a0002c0003t0001g0159 a0002c0003t0001g0162	4	306	0.0131	-99	c.349 others(118): Show c.349+14147_349+14245delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PLCXD1_chrX_276381_308356	297034	TGGGGATT others(92): Show TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACAT GGGGATCAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18992.hp1 NA19060.hp1 HG01168.hp2 NA18992.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0057 a0001c0001t0074 a0001c0003t0060 a0001c0001t0057 a0001c0001t0074 a0001c0003t0060	a0001c0001t0057g0055 a0001c0001t0074g0143 a0001c0003t0060g0051 a0001c0001t0057g0055 a0001c0001t0074g0143 a0001c0003t0060g0051	3	176	0.0171	-99	c.734 others(116): Show c.734-2059_734-1961delGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTCCCACATGGGGATCAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTATCACATGGGG		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHN1_chr1_961482_980865	977494	TCCCGCTC others(92): Show TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0108 a0004c0004t0009g0108	1	422	0.0024	-99	c.29 others(110): Show c.2920_*3018delCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCC CGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCC		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1630		chr1	TogoVar
PLIN4_chr19_4497192_4523486	4512884	GTGGTGTC others(92): Show GTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACC AGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00741.hp2 HG01074.hp1 others(39): Show HG00423.hp2 HG00741.hp2 HG01074.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01993.hp2 HG02109.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03490.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19082.hp1 NA19091.hp1 NA20300.hp2	a0004 a0006 a0017 others(7): Show a0004 a0006 a0017 a0028 a0038 a0083 a0084 a0085 a0086 a0087	a0004c0004 a0004c0013 a0006c0005 others(9): Show a0004c0004 a0004c0013 a0006c0005 a0006c0030 a0017c0017 a0028c0042 a0038c0045 a0083c0083 a0084c0084 a0085c0082 a0086c0081 a0087c0080	a0004c0004t0002 a0004c0004t0003 a0004c0013t0003 others(12): Show a0004c0004t0002 a0004c0004t0003 a0004c0013t0003 a0006c0005t0001 a0006c0005t0003 a0006c0030t0001 a0006c0030t0015 a0017c0017t0001 a0028c0042t0004 a0038c0045t0013 a0083c0083t0001 a0084c0084t0004 a0085c0082t0001 a0086c0081t0015 a0087c0080t0018	a0004c0004t0002g0118 a0004c0004t0002g0168 a0004c0004t0002g0169 others(26): Show a0004c0004t0002g0118 a0004c0004t0002g0168 a0004c0004t0002g0169 a0004c0004t0003g0002 a0004c0004t0003g0038 a0004c0004t0003g0170 a0004c0013t0003g0171 a0004c0013t0003g0172 a0004c0013t0003g0173 a0004c0013t0003g0174 a0006c0005t0001g0007 a0006c0005t0001g0029 a0006c0005t0001g0165 a0006c0005t0001g0166 a0006c0005t0003g0016 a0006c0030t0001g0117 a0006c0030t0015g0116 a0017c0017t0001g0044 a0017c0017t0001g0263 a0017c0017t0001g0264 a0028c0042t0004g0265 a0028c0042t0004g0266 a0038c0045t0013g0293 a0038c0045t0013g0294 a0083c0083t0001g0175 a0084c0084t0004g0176 a0085c0082t0001g0167 a0086c0081t0015g0115 a0087c0080t0018g0303	42	412	0.1019	-99	c.977 others(107): Show c.977_1075delGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCTG TAGTGGGGTGACTGGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCG GCGTGGACACCA	p.Ser others(13): Show p.Ser326_Thr358del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1194/6502	977/4116	326/1371			chr19	TogoVar
PPP2R2C_chr4_6315581_6477614	6353775	AACACCGA others(92): Show AACACCGACAGCCCCACACACCAACAGCGCCCCCACACCGACAGCCCCCA ACACCGACAGCCCCCAACACCGACAGCCGCCCCACACCGACAGCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01069.hp2 others(60): Show HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02074.hp1 HG02109.hp2 HG02135.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG03017.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp2 NA18980.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0020 a0001c0002t0022 a0001c0002t0040 a0001c0003t0003 a0001c0004t0002 a0001c0009t0002	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0030 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0139 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0002g0004 a0001c0001t0002g0047 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0103 a0001c0001t0002g0135 a0001c0001t0002g0149 a0001c0001t0002g0194 a0001c0001t0002g0239 a0001c0001t0004g0257 a0001c0001t0004g0261 a0001c0001t0004g0264 a0001c0001t0004g0268 a0001c0001t0004g0276 a0001c0001t0004g0279 a0001c0001t0004g0289 a0001c0001t0004g0292 a0001c0001t0006g0091 a0001c0001t0006g0223 a0001c0001t0007g0295 a0001c0001t0009g0118 a0001c0001t0027g0269 a0001c0001t0027g0294 a0001c0001t0033g0082 a0001c0001t0034g0132 a0001c0001t0035g0143 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0054 a0001c0002t0003g0071 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0142 a0001c0002t0003g0148 a0001c0002t0003g0224 a0001c0002t0003g0238 a0001c0002t0005g0041 a0001c0002t0005g0214 a0001c0002t0010g0236 a0001c0002t0011g0017 a0001c0002t0013g0040 a0001c0002t0015g0259 a0001c0002t0020g0138 a0001c0002t0022g0029 a0001c0002t0040g0150 a0001c0003t0003g0052 a0001c0004t0002g0198 a0001c0009t0002g0088	63	298	0.2114	-99	c.626 others(116): Show c.626-5864_626-5766delGGGGGGGCTGTCGGTGTGGGGCGGCTGT CGGTGTTGGGGGCTGTCGGTGTTGGGGGCTGTCGGTGTGGGGGCGCTGTT GGTGTGTGGGGCTGTCGGTGT		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8						chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6353824	AACACCGA others(92): Show AACACCGACAGCCCCCAACACCGACAGCCGCCCCACACCGACAGCCCCCC CACACCGACAGCCCCCAACACCGACAGCCCCCAACACCGACAGCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0195 a0001c0002t0008g0195	1	298	0.0034	-99	c.626 others(116): Show c.626-5913_626-5815delGGGGGGGCTGTCGGTGTTGGGGGCTGTC GGTGTTGGGGGCTGTCGGTGTGGGGGGGCTGTCGGTGTGGGGCGGCTGTC GGTGTTGGGGGCTGTCGGTGT		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8						chr4	TogoVar
PPP2R5C_chr14_101756709_101932977	101782325	CTCCCCCT others(92): Show CTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCC CTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG02886.hp1 others(2): Show HG01884.hp2 HG02717.hp1 HG02886.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0001c0001t0002 a0001c0001t0007 a0001c0003t0002	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0007g0126 others(2): Show a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0007g0126 a0001c0003t0002g0127 a0001c0003t0002g0128	5	138	0.0362	-99	c.94- others(114): Show c.94-3690_94-3592delCCCCTTCCCCTCCCTCTCTCCCCTTCTCTC TCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCC CTCTCTCTCCCCCCCTTTC		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCA_chr17_66297613_66815743	66798530	ATGGTGGT others(92): Show ATGGTGGTGACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0152 a0001c0003t0011g0152	1	178	0.0056	-99	c.185 others(118): Show c.1855-5334_1855-5236delACGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798540	CGGTGGTG others(92): Show CGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02922.hp1 HG00639.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0026 a0001c0002t0021 a0001c0002t0026	a0001c0002t0021g0115 a0001c0002t0026g0123 a0001c0002t0021g0115 a0001c0002t0026g0123	2	178	0.0112	-99	c.185 others(118): Show c.1855-5319_1855-5221delATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798611	GTGGTGGT others(92): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0094 a0001c0001t0023g0094	1	178	0.0056	-99	c.185 others(118): Show c.1855-5247_1855-5149delATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGG TGGTGGTGATGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKG1_chr10_51069487_52303350	51392855	GGGGCTGA others(92): Show GGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 NA19240.hp2 HG02622.hp1 HG02976.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0006 a0001c0006t0007 a0001c0001t0001 a0001c0002t0006 a0001c0006t0007	a0001c0001t0001g0019 a0001c0002t0006g0024 a0001c0006t0007g0050 a0001c0001t0001g0019 a0001c0002t0006g0024 a0001c0006t0007g0050	3	64	0.0469	-99	c.479 others(118): Show c.479-74854_479-74756delCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCTGAGGGCTGACCCCCC		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN12_chr7_77532295_77645069	77533682	GGGGCGGC others(92): Show GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACT GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02922.hp2 HG01109.hp2 HG01891.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308	3	310	0.0097	-99	c.-38 others(110): Show c.-3864_-3766delGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCA CCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACT		PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding					3612		chr7	TogoVar
PTPRT_chr20_42067756_43194906	42508973	TATATAAT others(92): Show TATATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTA ATTTATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19240.hp2 NA21309.hp1 HG01261.hp2 NA19240.hp2 NA21309.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0016 a0003c0006 a0007c0010 a0002c0016 a0003c0006 a0007c0010	a0002c0016t0030 a0003c0006t0008 a0007c0010t0009 a0002c0016t0030 a0003c0006t0008 a0007c0010t0009	a0002c0016t0030g0014 a0003c0006t0008g0054 a0007c0010t0009g0021 a0002c0016t0030g0014 a0003c0006t0008g0054 a0007c0010t0009g0021	3	62	0.0484	-99	c.115 others(120): Show c.1154-36510_1154-36412delGATTTATATCTATAAATTAAATAT AAATTATATAATTTATATCTATAAATTAAATATAAATTATATAATTTATA TCTATAAATTAAATATAAATTATAT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	42509072	CATATAAT others(92): Show CATATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTA ATTTATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0011 a0002c0001t0002g0011	1	62	0.0161	-99	c.115 others(120): Show c.1154-36609_1154-36511delAATTTATATCTATAAATTAAATAT AAATTATATAATTTATATCTATAAATTAAATATAAATTATATAATTTATA TCTATAAATTAAATATAAATTATAT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PUM1_chr1_30926506_31070717	30972285	AGGGGAGG others(92): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02135.hp2 HG02083.hp1 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0298 a0001c0002t0011g0309 a0001c0002t0011g0298 a0001c0002t0011g0309	2	334	0.0060	-99	c.150 others(118): Show c.1506+2267_1506+2365delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCC		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUS7_chr7_105451503_105527271	105504137	TCGGCTCA others(92): Show TCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCCGCCTC AGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp2 others(30): Show HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02135.hp1 HG02630.hp1 HG02683.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 NA18945.hp2 NA18950.hp1 NA18955.hp1 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA18989.hp1 NA19003.hp2 NA19004.hp2 NA19064.hp2 NA19065.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(30): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0016g0311	33	350	0.0943	-99	c.586 others(116): Show c.586-1672_586-1574delTTAGCTGGGCGTGGTGGCGGGCACCTGT AATCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCG		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15						chr7	TogoVar
PXMP2_chr12_132682587_132709985	132692299	TGCCAGTT others(92): Show TGCCAGTTAATTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCGCCCTT AGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	350	0.0029	-99	c.236 others(116): Show c.236+2006_236+2104delGTTAGTGAGCTCCCTTAGCCAGTTAATT AGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTT AGTGAGCTCCCTTGCCAGTTA		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132692382	GTTAGTGA others(92): Show GTTAGTGAGCTCCCTTAGCCAGTTAATTAGTGAGCTCCCTTAGCCAGTTA GTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(83): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0004 a0003c0009 others(1): Show a0001c0002 a0001c0004 a0003c0009 a0004c0006	a0001c0002t0002 a0001c0002t0006 a0001c0004t0002 others(2): Show a0001c0002t0002 a0001c0002t0006 a0001c0004t0002 a0003c0009t0002 a0004c0006t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 others(37): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0153 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0006g0002 a0001c0004t0002g0080 a0003c0009t0002g0062 a0004c0006t0002g0051	86	350	0.2457	-99	c.236 others(116): Show c.236+2031_236+2129delATTAGTGAGCTCCCTTAGCCAGTTAGTT AGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAATTA GTGAGCTCCCTTAGCCAGTTA		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB3C_chr5_58578075_58864394	58596632	TATATAAA others(92): Show TATATAAATATATAATATATAATACATAATATATTATATATAAATATATA ATATATAATACATAATATATTATATATAAATATATAATATATAATACATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp2 HG02615.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0075 a0001c0001t0045 a0001c0001t0075	a0001c0001t0045g0132 a0001c0001t0075g0134 a0001c0001t0045g0132 a0001c0001t0075g0134	2	220	0.0091	-99	c.24+ others(116): Show c.24+13406_24+13504delAATATATAATATATAATACATAATATAT TATATATAAATATATAATATATAATACATAATATATTATATATAAATATA TAATATATAATACATAATATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597820	TACGATAA others(92): Show TACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATAC ATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02965.hp1 HG02622.hp2 HG02717.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0002 a0001c0001t0006g0001 a0001c0001t0006g0003 a0001c0001t0002g0002 a0001c0001t0006g0001 a0001c0001t0006g0003	3	220	0.0136	-99	c.24+ others(116): Show c.24+14590_24+14688delCGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACGA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	170955595	TATATATA others(92): Show TATATATATATATATGCTCAGTGTATATATATATATATATATATATGCTC AGTGTATATATATATATATATATATATATATATATATACACTGAATGAAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02559.hp2 others(4): Show HG01243.hp2 HG02055.hp1 HG02559.hp2 HG02809.hp2 HG02970.hp2 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0003g0008 others(4): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012	7	192	0.0365	-99	c.157 others(118): Show c.1574+1894_1574+1992delATATATATATATATGCTCAGTGTATA TATATATATATATATATATGCTCAGTGTATATATATATATATATATATAT ATATATATATACACTGAATGAAC		RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	13/27						chr5	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000382	ATGGGGCT others(92): Show ATGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCG GAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02698.hp1 HG03688.hp1 others(2): Show HG02630.hp2 HG02698.hp1 HG03688.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0008 others(1): Show a0001c0002 a0001c0004 a0002c0008 a0003c0018	a0001c0002t0003 a0001c0002t0116 a0001c0004t0009 others(2): Show a0001c0002t0003 a0001c0002t0116 a0001c0004t0009 a0002c0008t0036 a0003c0018t0092	a0001c0002t0003g0144 a0001c0002t0116g0214 a0001c0004t0009g0127 others(2): Show a0001c0002t0003g0144 a0001c0002t0116g0214 a0001c0004t0009g0127 a0002c0008t0036g0058 a0003c0018t0092g0096	5	218	0.0229	-99	c.120 others(118): Show c.1200+2163_1200+2261delGCAGAAGAAGCAGGGAGTGCAGGTCC AAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGG GCCTTCCTGATGCCGGAGAAGGG		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000682	AGGCTGGT others(92): Show AGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0022 a0001c0005t0011g0022	1	218	0.0046	-99	c.120 others(118): Show c.1200+2311_1200+2409delGGTGGAGGTAACAGTATCAGCCTCAG GGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCC AAGCACCAGGCTGAAGTGGGGCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000701	TATCAGCC others(92): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0017 a0002c0011t0002g0017	1	218	0.0046	-99	c.120 others(118): Show c.1200+2361_1200+2459delACAGAAGAAGCAGGGAGTGCAGGTCC AAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGG GCCTTCCTGATGCCGGAGAAGGG		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001034	ACAGAAGA others(92): Show ACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTG GTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0107 a0002c0003t0107	a0002c0003t0107g0068 a0002c0003t0107g0068	1	218	0.0046	-99	c.120 others(118): Show c.1200+2688_1200+2786delTCCAGGCTGAAGTGAGGCTGGTGGAG GTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAG AAGCAGGGAGTGCAGGTCCAAGC		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001163	ACCAGGCT others(92): Show ACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04115.hp2 NA18612.hp2 others(1): Show HG02723.hp1 HG04115.hp2 NA18612.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0002c0011 a0001c0007 a0002c0003 a0002c0011	a0001c0007t0012 a0002c0003t0001 a0002c0003t0052 others(1): Show a0001c0007t0012 a0002c0003t0001 a0002c0003t0052 a0002c0011t0002	a0001c0007t0012g0177 a0002c0003t0001g0192 a0002c0003t0052g0213 others(1): Show a0001c0007t0012g0177 a0002c0003t0001g0192 a0002c0003t0052g0213 a0002c0011t0002g0017	4	218	0.0184	-99	c.120 others(118): Show c.1200+2886_1200+2984delTCCAGGCTGAAGTGAGGCTGGTGGAG GTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAG AAGCAGGGAGTGCAGGTCCAAGC		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001262	TCCAGGCT others(92): Show TCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01515.hp1 HG02258.hp2 others(1): Show HG01081.hp2 HG01515.hp1 HG02258.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0050 a0001c0001t0053 a0001c0004t0027 others(1): Show a0001c0001t0050 a0001c0001t0053 a0001c0004t0027 a0001c0010t0113	a0001c0001t0050g0121 a0001c0001t0053g0069 a0001c0004t0027g0092 others(1): Show a0001c0001t0050g0121 a0001c0001t0053g0069 a0001c0004t0027g0092 a0001c0010t0113g0062	4	218	0.0184	-99	c.120 others(118): Show c.1200+2905_1200+3003delGGTGGAGGTAACAGTATCAGCCTCAG GGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCC AAGCACCAGGCTGAAGTGAGGCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001295	TATCAGCC others(92): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02615.hp1 HG02886.hp2 HG00733.hp2 HG02615.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0002t0004 a0001c0009t0137 a0001c0002t0001 a0001c0002t0004 a0001c0009t0137	a0001c0002t0001g0019 a0001c0002t0004g0169 a0001c0009t0137g0016 a0001c0002t0001g0019 a0001c0002t0004g0169 a0001c0009t0137g0016	3	218	0.0138	-99	c.120 others(118): Show c.1200+3017_1200+3115delGAATCAGCCTCAGGGCCTTCCTGATG CCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTG AAGTGAGGCTCGTGGAGGTAACA		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001394	AATCAGCC others(92): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp1 HG01071.hp1 others(27): Show HG00544.hp1 HG01070.hp1 HG01071.hp1 HG01515.hp2 HG02004.hp2 HG02040.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03654.hp1 HG03831.hp1 NA18945.hp2 NA18951.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19005.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19080.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0022 a0002c0003 a0002c0006 a0002c0011 a0002c0020	a0001c0001t0013 a0001c0001t0134 a0001c0002t0001 others(25): Show a0001c0001t0013 a0001c0001t0134 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0002t0032 a0001c0002t0044 a0001c0002t0115 a0001c0002t0133 a0001c0004t0007 a0001c0004t0008 a0001c0007t0043 a0001c0009t0045 a0001c0010t0057 a0001c0013t0103 a0001c0022t0033 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0024 a0002c0003t0065 a0002c0003t0126 a0002c0003t0136 a0002c0006t0002 a0002c0006t0063 a0002c0011t0007 a0002c0011t0031 a0002c0020t0019	a0001c0001t0013g0193 a0001c0001t0134g0067 a0001c0002t0001g0046 others(27): Show a0001c0001t0013g0193 a0001c0001t0134g0067 a0001c0002t0001g0046 a0001c0002t0005g0157 a0001c0002t0010g0149 a0001c0002t0032g0209 a0001c0002t0044g0185 a0001c0002t0115g0137 a0001c0002t0133g0109 a0001c0004t0007g0132 a0001c0004t0008g0031 a0001c0007t0043g0126 a0001c0009t0045g0200 a0001c0010t0057g0090 a0001c0013t0103g0071 a0001c0022t0033g0175 a0002c0003t0001g0172 a0002c0003t0004g0186 a0002c0003t0006g0218 a0002c0003t0024g0179 a0002c0003t0024g0183 a0002c0003t0065g0110 a0002c0003t0126g0171 a0002c0003t0136g0128 a0002c0006t0002g0064 a0002c0006t0002g0065 a0002c0006t0063g0155 a0002c0011t0007g0148 a0002c0011t0031g0113 a0002c0020t0019g0153	30	218	0.1376	-99	c.120 others(118): Show c.1200+3154_1200+3252delCAGAAGAAGCAGGGAGTGCAGGTCCA AGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAGATCAGCCTCAGGG CCTTCCTGATGCCGGAGAAGGGA		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001530	CAGAAGAA others(92): Show CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCG TGGAGGTAACAAGATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0111 a0001c0009t0111	a0001c0009t0111g0076 a0001c0009t0111g0076	1	218	0.0046	-99	c.120 others(118): Show c.1200+3171_1200+3269delGCAGGTCCAAGCACCAGGCTGAAGTG AGGCTCGTGGAGGTAACAAGATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGATAGAAGAAGCAGGGAGT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RBM19_chr12_113817057_113971325	113836897	TACACACC others(92): Show TACACACCCCCCCCCCCCCCACATACACACACACACACACACACGTGTCC CAAGCAATGCTTATGTGTCAGGCATACCTGTCCTCCTACTTACTACATAC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0155 a0002c0003t0001g0155	1	356	0.0028	-99	c.278 others(118): Show c.2785+7672_2785+7770delGTATGTAGTAAGTAGGAGGACAGGTA TGCCTGACACATAAGCATTGCTTGGGACACGTGTGTGTGTGTGTGTGTGT ATGTGGGGGGGGGGGGGGTGTGT		RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23						chr12	TogoVar
RBM26_chr13_79313868_79411255	79392064	GTATTATA others(92): Show GTATTATACAATAATACATAATTATATAATAATGTATTATACAATACATA ATTATATAATTATATATTATACAATAATACATAATTATTATATAATTATA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03490.hp2 HG01358.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0241 a0001c0002t0001g0242	2	328	0.0061	-99	c.72- others(116): Show c.72-13256_72-13158delTATAATTATATAATAATTATGTATTATT GTATAATATATAATTATATAATTATGTATTGTATAATACATTATTATATA ATTATGTATTATTGTATAATA		RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21						chr13	TogoVar
RIPOR3_chr20_50581108_50696542	50610024	TGCCTCAC others(92): Show TGCCTCACCTGCCACCCCTGCCTCCCCTGCCTCCCCTGCCACCCCTGCCT CACCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTCACCTGCCACCCCG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	280	0.0036	-99	c.427 others(114): Show c.427-401_427-303delCGGGGTGGCAGGTGAGGCAGGGGTGGCAGG TGAGGCAGGGGTGGCAGGTGAGGCAGGGGTGGCAGGGGAGGCAGGGGAGG CAGGGGTGGCAGGTGAGGC		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21						chr20	TogoVar
RNASE10_chr14_20500537_20518884	20506665	TGGGGGGT others(92): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18953.hp2 NA19009.hp2 NA18951.hp2 NA18953.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0185 a0001c0001t0005g0052 a0001c0001t0005g0185	3	396	0.0076	-99	c.-6+ others(112): Show c.-6+701_-6+799delGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGG		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF213_chr17_80255852_80403794	80314242	AGGTACTG others(92): Show AGGTACTGGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTG ATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0274 a0003c0005t0007g0274	1	292	0.0034	-99	c.281 others(118): Show c.2811+1079_2811+1177delACTGGAGGTGATGGTGGTAAAGGTGA TGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATG GAGGTGATGGTGGTGGTGGTGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	215929	AGGCTCTG others(92): Show AGGCTCTGGCCTGACCTCACCCACATGGCTGCCGGGCTCTGGCCTGACCC CACCCACATGGCTGCCGGGCTCTGGCCTGACCCCACCCACATGGCTGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(54): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG01070.hp2 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02572.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA19043.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0002c0005 a0003c0011 a0006c0009 a0007c0014 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0003t0001 a0001c0003t0018 a0001c0003t0028 a0001c0004t0001 a0001c0004t0026 a0001c0008t0001 a0001c0015t0007 a0002c0005t0005 a0002c0005t0023 a0003c0011t0001 a0006c0009t0001 a0007c0014t0018 a0008c0013t0003	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(54): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0069 a0001c0001t0003g0034 a0001c0001t0003g0084 a0001c0001t0003g0101 a0001c0001t0004g0008 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0005g0017 a0001c0001t0005g0100 a0001c0001t0006g0095 a0001c0001t0006g0105 a0001c0001t0007g0032 a0001c0001t0007g0097 a0001c0001t0010g0129 a0001c0001t0010g0131 a0001c0001t0012g0006 a0001c0001t0013g0108 a0001c0001t0014g0025 a0001c0001t0014g0106 a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0001t0037g0058 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0003g0033 a0001c0002t0003g0090 a0001c0002t0006g0060 a0001c0002t0007g0112 a0001c0002t0009g0126 a0001c0003t0001g0075 a0001c0003t0018g0019 a0001c0003t0028g0088 a0001c0004t0001g0050 a0001c0004t0001g0078 a0001c0004t0026g0013 a0001c0008t0001g0044 a0001c0015t0007g0026 a0002c0005t0005g0035 a0002c0005t0023g0125 a0003c0011t0001g0016 a0006c0009t0001g0054 a0007c0014t0018g0102 a0008c0013t0003g0037	57	133	0.4286	-99	c.728 others(114): Show c.728-226_728-128delCGGCAGCCATGTGGGTGGGGTCAGGCCAGA GCCCGGCAGCCATGTGGGTGGGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTGAGGTCAGGCCAGAGCC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
SCGB1C2_chr17_132569_144067	136282	CCCCTAAC others(92): Show CCCCTAACCCCTAACCAACCCTAACCCTAACCCTAACCCTAACCCCTAAC CCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	402	0.0025	-99	c.-13 others(110): Show c.-1308_-1210delCCCTAACCCCTAACCAACCCTAACCCTAACCCTA ACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTA ACCCCTAACCCCTAA		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					1286		chr17	TogoVar
SENP1_chr12_48037897_48111079	48056686	AATATATT others(92): Show AATATATTATTTAATATATTACATATTACATATATAAATATATTATTTAA TATATTACATATTACATATATAAATATATTTAACATATTACATATTACAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp2 HG02015.hp2 others(12): Show HG00423.hp2 HG01243.hp2 HG02015.hp2 HG06807.hp1 NA18940.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18969.hp1 NA18987.hp2 NA19057.hp2 NA19067.hp2 NA19068.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0094 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0010g0302	15	394	0.0381	-99	c.140 others(118): Show c.1407+6925_1407+7023delATGTAATATGTAATATGTTAAATATA TTTATATATGTAATATGTAATATATTAAATAATATATTTATATATGTAAT ATGTAATATATTAAATAATATAT		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SGSM2_chr17_2332501_2386054	2355387	TGGGGCAG others(92): Show TGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00597.hp1 others(18): Show HG00280.hp2 HG00408.hp1 HG00597.hp1 HG02074.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18989.hp2 NA18994.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA19079.hp1 NA19085.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0028 a0011c0027 a0001c0001 a0001c0028 a0011c0027	a0001c0001t0001 a0001c0028t0001 a0011c0027t0001 a0001c0001t0001 a0001c0028t0001 a0011c0027t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0082 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0028t0001g0250 a0011c0027t0001g0240	21	422	0.0498	-99	c.134 others(116): Show c.134-6245_134-6147delCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356366	GGGGTGTA others(92): Show GGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATC GGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATC	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0217 a0001c0037t0001g0217	1	422	0.0024	-99	c.134 others(116): Show c.134-5267_134-5169delTGTAAGGGTTGGGGGAAGGGACCCCATA TCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATA TCTTAAAATGGTGGAATCGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356775	GTTGGGGG others(92): Show GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19002.hp2 HG00408.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0001 a0001c0037t0001 a0001c0001t0001 a0001c0037t0001	a0001c0001t0001g0198 a0001c0037t0001g0217 a0001c0001t0001g0198 a0001c0037t0001g0217	2	422	0.0047	-99	c.134 others(116): Show c.134-4855_134-4757delGAAGGGACCCCATATCTTAAAATGGTGG AATCGGGGTGTAAGGATTGGGGAAGGGACCCCATATCTTAAAATGGTGGA ATCGGGGTGTAAGGATTGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3TC2_chr5_148977150_149068062	149006278	AAAAAAAG others(92): Show AAAAAAAGAAGTTCTAGATTCAGCAAGCAAGAGAAGCAGGGATAAAACCT TCTTAAGATCTAAGTATACTTAGTTTAAAGGCCCCATACCTCGTTATCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp2 others(78): Show HG00099.hp1 HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01261.hp2 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20300.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0008 a0013	a0001c0002 a0001c0007 a0001c0021 others(4): Show a0001c0002 a0001c0007 a0001c0021 a0003c0010 a0007c0015 a0008c0037 a0013c0025	a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 others(50): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0013 a0001c0002t0021 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0072 a0001c0002t0073 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0082 a0001c0002t0197 a0001c0002t0198 a0001c0002t0199 a0001c0002t0200 a0001c0002t0201 a0001c0002t0202 a0001c0002t0203 a0001c0002t0210 a0001c0007t0027 a0001c0007t0081 a0001c0007t0208 a0001c0007t0209 a0001c0021t0071 a0003c0010t0003 a0003c0010t0058 a0003c0010t0059 a0007c0015t0023 a0008c0037t0023 a0013c0025t0074	a0001c0002t0003g0002 a0001c0002t0003g0007 a0001c0002t0003g0053 others(64): Show a0001c0002t0003g0002 a0001c0002t0003g0007 a0001c0002t0003g0053 a0001c0002t0003g0129 a0001c0002t0005g0001 a0001c0002t0005g0044 a0001c0002t0005g0048 a0001c0002t0008g0010 a0001c0002t0008g0055 a0001c0002t0008g0056 a0001c0002t0013g0050 a0001c0002t0013g0052 a0001c0002t0013g0099 a0001c0002t0021g0004 a0001c0002t0024g0008 a0001c0002t0025g0047 a0001c0002t0025g0131 a0001c0002t0026g0009 a0001c0002t0047g0070 a0001c0002t0047g0091 a0001c0002t0048g0069 a0001c0002t0048g0092 a0001c0002t0049g0087 a0001c0002t0049g0296 a0001c0002t0055g0127 a0001c0002t0056g0134 a0001c0002t0057g0033 a0001c0002t0060g0024 a0001c0002t0061g0132 a0001c0002t0062g0133 a0001c0002t0063g0059 a0001c0002t0064g0080 a0001c0002t0065g0128 a0001c0002t0066g0054 a0001c0002t0067g0025 a0001c0002t0068g0051 a0001c0002t0069g0122 a0001c0002t0070g0032 a0001c0002t0072g0039 a0001c0002t0073g0130 a0001c0002t0075g0045 a0001c0002t0076g0046 a0001c0002t0077g0027 a0001c0002t0078g0203 a0001c0002t0079g0040 a0001c0002t0080g0031 a0001c0002t0082g0060 a0001c0002t0197g0085 a0001c0002t0198g0082 a0001c0002t0199g0078 a0001c0002t0200g0081 a0001c0002t0201g0089 a0001c0002t0202g0083 a0001c0002t0203g0079 a0001c0002t0210g0215 a0001c0007t0027g0211 a0001c0007t0027g0213 a0001c0007t0081g0212 a0001c0007t0208g0221 a0001c0007t0209g0061 a0001c0021t0071g0183 a0003c0010t0003g0283 a0003c0010t0058g0286 a0003c0010t0059g0287 a0007c0015t0023g0011 a0008c0037t0023g0065 a0013c0025t0074g0058	81	326	0.2485	-99	c.367 others(116): Show c.3675+504_3675+602delGAGATAACGAGGTATGGGGCCTTTAAAC TAAGTATACTTAGATCTTAAGAAGGTTTTATCCCTGCTTCTCTTGCTTGC TGAATCTAGAACTTCTTTTTT		SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	16/16						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1063667	GCCACAGC others(92): Show GCCACAGCCCTCCCGATCTCCACTTCCCCCTCCACCCCCACCTCACGAGG CCACAGCCCTCCCGATCTCCACTTCCCCCTCCACCCCCACCTCACGAGGC	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	118	0.0085	-99	c.273 others(115): Show c.2739+78_2739+176delGCCTCGTGAGGTGGGGGTGGAGGGGGAAG TGGAGATCGGGAGGGCTGTGGCCTCGTGAGGTGGGGGTGGAGGGGGAAGT GGAGATCGGGAGGGCTGTGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23						chr5	TogoVar

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