Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALP_chr19_56171008_56190775	56176209	C C	CGGGGTGA others(194): Show CGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAG CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGGCTGCCAGCTGCAG CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAG CG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	441	0.0023	201	c.-40 others(216): Show c.-40+274_-40+275insCAGGGTCGGCTGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGGTG AGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTG AGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTG AGAGCCTAGGCCAGGAGGGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR1_chr18_77244848_77282900	77252956	C C	CCACCACC others(194): Show CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC AT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0032 a0001c0002t0059g0032	1	346	0.0029	201	c.666 others(218): Show c.666+1744_666+1745insCCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GLOD4_chr17_754330_787280	762604	T T	TTCATCAC others(194): Show TTCATCACCATCCAGGCCCCGGCCTGCACCTACTCAGTGTGTGATCTTCA GGGATGAAGGGGAATAATTTCATCACCATCCAGGCCCCGGCCTGCACCTA CTCAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTTCATCACCATCCA GGCCCCGGCCTGCACCTACTCAGTGTGTGATCTTCAGGGATGAAGGGGAA TA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02451.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	2	417	0.0048	201	c.832 others(218): Show c.832-2367_832-2366insTATTCCCCTTCATCCCTGAAGATCACAC ACTGAGTAGGTGCAGGCCGGGGCCTGGATGGTGATGAAATTATTCCCCTT CATCCCTGAAGATCACGCACTGAGTAGGTGCAGGCCGGGGCCTGGATGGT GATGAAATTATTCCCCTTCATCCCTGAAGATCACACACTGAGTAGGTGCA GGCCGGGGCCTGGATGGTGATGA	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLS_chr2_190875821_190970552	190929125	T T	TAAACACA others(194): Show TAAACACACAATGTTCTAATTCACTGTACTTAGTTTTCCTCCTTGCTATT TCCAAACCCCTTTGTGCCTCTTGTAGATCTTGGAGTATGGCTGAGGAAAA TTTATAAGTTGAACTCATTCTTCTCCTATCCACTTTATTTTTTGACCCCG TCTCATCCCAATTTTGCTTACTATTAGCTAAAAATAAAATGTGGAAAAAT TA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18961.hp2 NA18966.hp1 others(4): Show NA18947.hp2 NA18961.hp2 NA18966.hp1 NA18983.hp1 NA18993.hp2 NA19081.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0212 a0001c0001t0004g0219 a0001c0001t0004g0220 others(4): Show a0001c0001t0004g0212 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0234 a0001c0001t0004g0267 a0001c0001t0010g0235 a0001c0001t0010g0236	7	378	0.0185	201	c.142 others(220): Show c.1426-1311_1426-1310insAACACACAATGTTCTAATTCACTGTA CTTAGTTTTCCTCCTTGCTATTTCCAAACCCCTTTGTGCCTCTTGTAGAT CTTGGAGTATGGCTGAGGAAAATTTATAAGTTGAACTCATTCTTCTCCTA TCCACTTTATTTTTTGACCCCGTCTCATCCCAATTTTGCTTACTATTAGC TAAAAATAAAATGTGGAAAAATTAA	GLS	ENSG00000115419.14	transcript	ENST00000320717.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPAT3_chr4_83531108_83610875	83579045	T T	TCCTTCCT others(194): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTTCCCTCCCTCCCTCTTTCTTTTCTTTTTTCTTTTTTCTT TTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT CC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0184 a0001c0001t0005g0184	1	270	0.0037	201	c.209 others(218): Show c.209-2516_209-2515insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTCCCTCTTTCT TTTCTTTTTTCTTTTTTCTTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCTTTCCC	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPAT3_chr4_83531108_83610875	83579049	T T	TCCTTCCT others(194): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTTCCCTCCCTCCCTCTTTCTTTTCTTTTTTCTTTTTTCTTTTCT TTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT CC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	288	0.0035	201	c.209 others(218): Show c.209-2512_209-2511insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTCCCTCTTTCTTTTC TTTTTTCTTTTTTCTTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCTTTCCC	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRM5_chr11_88499642_89070982	88687579	A A	ATATATTA others(194): Show ATATATTATATATATATTATATATATATATTATATATATATTATATATAT TATATATATATTATATATATATTATATATATATATTATATATATAATATA TATATATTATATATATATTATATATATATATTATATATATAATATATATA ATATATATATTATATATATATATTATATATATATAATATATATATATTAT AT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	89	0.0112	201	c.912 others(220): Show c.912-34177_912-34176insATATAATATATATATATTATATATAT ATAATATATATATATAATATATATATTATATATATTATATATATAATATA TATATATAATATATATATAATATATATATATTATATATATAATATATATA TATAATATATATATAATATATATATAATATATATAATATATATATAATAT ATATATATAATATATATATAATATA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(194): Show TCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCC TC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0282 a0001c0002t0016g0282	1	175	0.0057	201	c.427 others(218): Show c.427-1062_427-1061insTCCCCCCCCTCCCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653236	C C	CCCTCTTC others(194): Show CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCTC CT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	253	0.0040	201	c.427 others(218): Show c.427-1038_427-1037insTTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTC CCCCCCTCCTCCTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(194): Show AATATTATATATAATATTATATATTTTATATATAATATATATAATATTAT ATATTTTATATATAATATTATATATAATATTATATATTTTATATAATATT ATATATAATATTATATATTTTATATATAATATTATATATAATATTATATA TTTTATATATAATATATATTATATAATATTATATATATTATACATTACAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	127	0.0079	201	c.-35 others(212): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATATATAATATTATATATTTTATATATAATATTATATATAATATTATAT ATTTTATATAATATTATATATAATATTATATATTTTATATATAATATTAT ATATAATATTATATATTTTATATATAATATATATTATATAATATTATATA TATTATACATTACATAT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2902		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(194): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATATTAT ATATTTTATATATAATATTATATATAATATTATATATTTTATATAATATT ATATATAATATTATATATTTTATATATAATATTATATATAATATTATATA TTTTATATATAATATATATTATATAATATTATATATATTATACATTACAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01099.hp1 others(11): Show HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01257.hp1 HG01361.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082	14	140	0.1000	201	c.-35 others(212): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATTATATATATTATATATTTTATATATAATATTATATATAATATTATAT ATTTTATATAATATTATATATAATATTATATATTTTATATATAATATTAT ATATAATATTATATATTTTATATATAATATATATTATATAATATTATATA TATTATACATTACATAT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2902		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352893	A A	AATATTAT others(194): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATATTAT ATATTTTATATATAATATTATATATAATATTATATATTTTATATAATATT ATATATAATATTATATATTTTATATATAATATTATATATAATATTATATA TTTTATATATAATATATATTATATAATATTATATATATTATACATTACAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01099.hp1 others(11): Show HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01257.hp2 HG01361.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG03239.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0143 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159	14	135	0.1037	201	c.97 others(210): Show c.972_*973insATATTATATATAATATTATATATTTTATATATAATA TTATATATATTATATATTTTATATATAATATTATATATAATATTATATAT TTTATATAATATTATATATAATATTATATATTTTATATATAATATTATAT ATAATATTATATATTTTATATATAATATATATTATATAATATTATATATA TTATACATTACATAT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		857		chr2	TogoVar
ISYNA1_chr19_18429388_18443133	18442176	C C	CCACACCC others(194): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACACCCCACACTGCACACCCCAACACACCA CACCCTCACACCACACACCAACACACACCACACCCACACAACACATAACA AACCACACCCACACCCAACACACATACCACATCCACACATCCCAACACAC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(128): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19090.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0008 a0001c0010 others(2): Show a0001c0001 a0001c0008 a0001c0010 a0002c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0008t0002 a0001c0010t0002 a0002c0006t0002 a0004c0005t0002	a0001c0001t0001g0025 a0001c0001t0002g0001 a0001c0001t0002g0004 others(8): Show a0001c0001t0001g0025 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0007g0015 a0001c0001t0008g0018 a0001c0008t0002g0017 a0001c0008t0002g0019 a0001c0010t0002g0020 a0002c0006t0002g0008 a0004c0005t0002g0007	131	136	0.9632	201	c.-40 others(212): Show c.-4094_-4093insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTGTTATGTGTTGTGTGGGTGTGGTGTGTGTTG GTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGT GGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGTG GTATGTGTTAGGGTGTG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4044		chr19	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(194): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	322	0.0031	201	c.-86 others(210): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132160053	G G	GGGGCGCC others(194): Show GGGGCGCCTCTTGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCT GGGGAGCCTCTTCCAGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGC TGGGGGGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGC TGGGGAGCCTCTTCCAGTGTGATGCTGGGGGGGTCTCTCCCTGTGTGATG CT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	62	0.0161	201	c.222 others(220): Show c.2221-3156_2221-3155insGGGCGCCTCTTGCTGTGTGATGCTGG GGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATGCTGG GGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTG GGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATGCTG GGGGGGTCTCTCCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
KATNIP_chr16_27545144_27785344	27713827	T T	TGTGTATA others(194): Show TGTGTATATATATACACATACATATTATATATATGTGTGTGTATATATAT ACACACACATATTATATATATGTGTGTGTATATATATACACATACATATT ATATATATGTGTGTGTATATATATACACATACATATTATATATATGTGTG TGTATATGTATATATACACATATTATATATGTGTGTGTGTGTGTGTATAT AC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0066 a0002c0002t0003g0066	1	142	0.0070	201	c.160 others(220): Show c.1605+4907_1605+4908insGTGTATATATATACACATACATATTA TATATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGT GTATATATATACACATACATATTATATATATGTGTGTGTATATATATACA CATACATATTATATATATGTGTGTGTATATGTATATATACACATATTATA TATGTGTGTGTGTGTGTGTATATAC	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KCNG2_chr18_79792938_79905100	79795508	G G	GATTTACG others(194): Show GATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGT CCGAGAGACACGGGACCGATTTACAGGATCACAGGGGGAGAAAAACACAC TTGAGGCCTGTCCACATCTGAGAGACACGGGACTGATTTACGGGATCAGA GAGGGAGAGAAACACACTTGAGGCCTGTCCACGTCTCAGAGACACGGGAC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	302	0.0033	201	c.-26 others(212): Show c.-2621_-2620insATTTACGGGATCACAGGGGGAGAAAAACACACAC GAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACAGGATCACAGG GGGAGAAAAACACACTTGAGGCCTGTCCACATCTGAGAGACACGGGACTG ATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACGTC TCAGAGACACGGGACCA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding		2429		chr18	TogoVar
KCNG2_chr18_79792938_79905100	79795525	G G	GGGGAGAA others(194): Show GGGGAGAAAAACACACTTGAGGCCTGTCCACATCTGAGAGACACGGGACT GATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACGT CCGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACA GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	169	0.0059	201	c.-26 others(212): Show c.-2604_-2603insGGGAGAAAAACACACTTGAGGCCTGTCCACATCT GAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACTT GAGGCCTGTCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACAGG GGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCG ATTTACGGGATCACAGC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding		2412		chr18	TogoVar
KCNQ2_chr20_63395208_63477655	63442884	C C	CCATCACC others(194): Show CCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACC ATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCATCAC CACCACCACCATCACCATCACCATTACCACCACCATTACCACCACCATCA CCATCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACC AT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0280 a0001c0003t0003g0280	1	326	0.0031	201	c.691 others(216): Show c.691-354_691-353insATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAAT GGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGG TGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTG GTGGTGGTGATGGTGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(194): Show CATCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCA CCACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACC ATCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCAT CACCACCACCACCACCACCATCACCATCACCACCACCATCACCATCACCA TT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0026 a0001c0008t0026	a0001c0008t0026g0276 a0001c0008t0026g0276	1	233	0.0043	201	c.691 others(216): Show c.691-367_691-366insAATGGTGATGGTGATGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGG TGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTG ATGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45229320	T T	TCCCCACC others(194): Show TCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCA CCTGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCTGAAAGA TCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACC CC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	52	0.0192	201	c.64+ others(218): Show c.64+11319_64+11320insGGGGTGGAGAGGGATCTTTCGGGTGAGT GGTGGTGGCGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGG GGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGGGGGGGCATG GAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGAT CTTTCAGGTGAGTGGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(194): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0090 a0001c0001t0031g0090	1	224	0.0045	201	c.-25 others(220): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(194): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0015 a0001c0001t0036g0015	1	224	0.0045	201	c.-25 others(220): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(194): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 HG02083.hp2 others(5): Show HG00438.hp1 HG02080.hp1 HG02083.hp2 HG03704.hp2 NA18906.hp2 NA18944.hp1 NA19003.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0038 a0001c0002t0004	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0078 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0002g0042 a0001c0001t0003g0022 a0001c0001t0010g0178 a0001c0001t0038g0227 a0001c0002t0004g0023	8	231	0.0346	201	c.-25 others(220): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525952	T T	TTCTTCTC others(194): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTT CC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0207 a0001c0001t0061g0207	1	306	0.0033	201	c.-25 others(220): Show c.-25+38840_-25+38841insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TCCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(194): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTT CC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0268 a0005c0011t0003g0268	1	222	0.0045	201	c.-25 others(220): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTC TTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(194): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTT CC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG02132.hp1 others(16): Show HG01256.hp2 HG01496.hp2 HG02132.hp1 HG02738.hp2 HG03831.hp2 HG03942.hp1 NA18939.hp1 NA18950.hp2 NA18960.hp2 NA18971.hp2 NA18979.hp1 NA18988.hp2 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0002t0004	a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0164 others(16): Show a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0129 a0001c0001t0002g0153 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0139 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0004g0184 a0001c0001t0012g0152 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0012g0156 a0001c0001t0020g0148 a0001c0002t0004g0172	19	191	0.0995	201	c.-25 others(220): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTC TTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(194): Show TCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTT CC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	173	0.0058	201	c.-25 others(220): Show c.-25+38852_-25+38853insCCTTCTTCTTCTCCTTCTTCTCCTTC TTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIF26B_chr1_245149985_245714432	245442965	G G	GGTCATCT others(194): Show GGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACC TAGAGCTGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCAC TGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCTGTCATC TCCCTCACTGTTCACCTAGAGCTGTCATCTCCCTCACTGTTCACCTAGAA CT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00639.hp2 others(26): Show HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01884.hp1 HG01981.hp2 HG02056.hp2 HG02257.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19002.hp1 NA19011.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0013 a0014 a0021	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0013 a0001c0022 a0001c0055 a0002c0006 a0002c0030 a0002c0031 a0003c0003 a0003c0008 a0004c0011 a0004c0019 a0005c0017 a0005c0058 a0006c0015 a0013c0059 a0014c0033 a0021c0043	a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 others(24): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0001t0087 a0001c0002t0005 a0001c0002t0010 a0001c0002t0050 a0001c0004t0013 a0001c0004t0040 a0001c0009t0012 a0001c0013t0001 a0001c0022t0055 a0001c0055t0027 a0002c0006t0021 a0002c0030t0074 a0002c0031t0076 a0003c0003t0022 a0003c0008t0006 a0004c0011t0032 a0004c0019t0058 a0005c0017t0009 a0005c0058t0079 a0006c0015t0015 a0006c0015t0060 a0013c0059t0011 a0014c0033t0031 a0021c0043t0039	a0001c0001t0002g0062 a0001c0001t0008g0052 a0001c0001t0016g0135 others(26): Show a0001c0001t0002g0062 a0001c0001t0008g0052 a0001c0001t0016g0135 a0001c0001t0087g0088 a0001c0002t0005g0017 a0001c0002t0005g0141 a0001c0002t0010g0034 a0001c0002t0010g0035 a0001c0002t0050g0102 a0001c0004t0013g0103 a0001c0004t0040g0113 a0001c0009t0012g0099 a0001c0013t0001g0053 a0001c0022t0055g0139 a0001c0055t0027g0080 a0002c0006t0021g0025 a0002c0030t0074g0021 a0002c0031t0076g0030 a0003c0003t0022g0155 a0003c0008t0006g0095 a0004c0011t0032g0136 a0004c0019t0058g0111 a0005c0017t0009g0146 a0005c0058t0079g0043 a0006c0015t0015g0069 a0006c0015t0060g0004 a0013c0059t0011g0082 a0014c0033t0031g0002 a0021c0043t0039g0134	29	160	0.1813	201	c.116 others(222): Show c.1166+23242_1166+23243insCTGCGGTCATCTCCCTCACTGTTC ACCTAGAGCTGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCT CACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCTGTC ATCTCCCTCACTGTTCACCTAGAGCTGTCATCTCCCTCACTGTTCACCTA GAACTGTCATCTCCCTCACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245442974	C C	CCTCACTG others(194): Show CCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCTGT CATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCT AGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCTGTCATCTCCCTCACT GTTCACCTAGAGCTGTCATCTCCCTCACTGTTCACCTAGAACTGTCATCT CT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0093 a0001c0004t0001g0093	1	160	0.0063	201	c.116 others(222): Show c.1166+23242_1166+23243insCTGCGGTCATCTCCCTCACTGTTC ACCTAGAGCTGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCT CACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCTGTC ATCTCCCTCACTGTTCACCTAGAGCTGTCATCTCCCTCACTGTTCACCTA GAACTGTCATCTCTCTCACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATACAT others(194): Show ATATACATATACATATACATATATATATATATACACATATACATATATAT ATATACATATACATATATATATATATACACATATACATATATATATATAC ATATACATATATATATATATACACATATACATATATATATATATACATAC ACATATATATATATATATATATGTGTATATATATATATATATATATGTGT AT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0034 a0001c0004t0009g0034	1	101	0.0099	201	c.218 others(216): Show c.218+246_218+247insATACATATACATATACATATATATATATAT ACACATATACATATATATATATACATATACATATATATATATATACACAT ATACATATATATATATACATATACATATATATATATATACACATATACAT ATATATATATATACATACACATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LMCD1_chr3_8496823_8579668	8502322	T T	TATATAAA others(194): Show TATATAAAATATATATAATATATATTATATATAAAATATATAATATATAT TATATAAAATATATATAATATATATTATATATAAAATATATAATATATAT TATATAAAATATATAATATATATTATATAAAATATATAATATATATTATA TATAAAATATATAATATATATTATATATAAAATATATAATATATTATATA AA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	248	0.0040	201	c.42+ others(214): Show c.42+347_42+348insAAATATATATAATATATATTATATATAAAATA TATAATATATATTATATAAAATATATATAATATATATTATATATAAAATA TATAATATATATTATATAAAATATATAATATATATTATATAAAATATATA ATATATATTATATATAAAATATATAATATATATTATATATAAAATATATA ATATATTATATAAAATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMCD1_chr3_8496823_8579668	8502322	T T	TATATATA others(194): Show TATATATAAAATATATAATATATATTATATAAAATATATATAATATATAT TATATATAAAATATATAATATATATTATATAAAATATATATAATATATAT TATATATAAAATATATAATATATATTATATAAAATATATAATATATATTA TATAAAATATATAATATATATTATATATAAAATATATAATATATTATATA AA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0262 a0001c0001t0001g0265	2	249	0.0080	201	c.42+ others(214): Show c.42+350_42+351insAATATATAATATATATTATATAAAATATATAT AATATATATTATATATAAAATATATAATATATATTATATAAAATATATAT AATATATATTATATATAAAATATATAATATATATTATATAAAATATATAA TATATATTATATAAAATATATAATATATATTATATATAAAATATATAATA TATTATATAAAATATATAA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMCD1_chr3_8496823_8579668	8502339	A A	ATATATAT others(194): Show ATATATATTATATATAAAATATATAATATATATTATATAAAATATATATA ATATATATTATATATAAAATATATAATATATATTATATAAAATATATATA ATATATATTATATATAAAATATATAATATATATTATATAAAATATATAAT ATATATTATATAAAATATATAATATATATTATATATAAAATATATAATAT AT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG01884.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0052 a0001c0001t0014 a0001c0001t0052	a0001c0001t0014g0296 a0001c0001t0052g0295 a0001c0001t0014g0296 a0001c0001t0052g0295	2	311	0.0064	201	c.42+ others(214): Show c.42+365_42+366insTTATATATAAAATATATAATATATATTATATA AAATATATATAATATATATTATATATAAAATATATAATATATATTATATA AAATATATATAATATATATTATATATAAAATATATAATATATATTATATA AAATATATAATATATATTATATAAAATATATAATATATATTATATATAAA ATATATAATATATTATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMCD1_chr3_8496823_8579668	8502372	T T	TATATATA others(194): Show TATATATAATATATATTATATATAAAATATATAATATATATTATATAAAA TATATAATATATATTATATAAAATATATAATATATATTATATATAAAATA TATAATATATTATATAAAATATATAATATATATTATATATAAAATATATA ATATATATTATATAAAATATATATAATATATATTATATATAAAATATATA TA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	312	0.0032	201	c.42+ others(214): Show c.42+424_42+425insATATATATTATATAAAATATATAATATATATT ATATAAAATATATAATATATATTATATATAAAATATATAATATATTATAT AAAATATATAATATATATTATATATAAAATATATAATATATATTATATAA AATATATATAATATATATTATATATAAAATATATATAATATATAATATAT ATTATATATAAAATATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP1B_chr2_140226423_142136016	140828789	C C	CAAAAAAA others(194): Show CAAAAAAAAAAATAAAAAATACAAAAAATACAAAAAATTAGCCGGGCGTG GTAGCGGGTGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0011 a0001c0016t0001g0011	1	17	0.0588	201	c.520 others(222): Show c.5209+11201_5209+11202insTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGCAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTA TTTTTTGTATTTTTTATTTTTTTTTTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	31/90			chr2	TogoVar
LRRC23_chr12_6899822_6919229	6909119	A A	ATTATATA others(194): Show ATTATATATTATATATAATATATAATATATAATATATAATATATATTTAT TAATAATATATATAATATATATATTTATTTATATATATATTATTATATGT ATATAAATATATATATTTATTAATATATATAAATATATATATTTATTAAT AATATATATAATATATATATAATATATAATATATAATATATAATATATAT TT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01361.hp1 others(36): Show HG00280.hp1 HG01081.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03688.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18945.hp2 NA18951.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA19003.hp2 NA19012.hp1 NA19030.hp1 NA19067.hp1 NA19074.hp2 NA19081.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0006 a0002c0002t0002 a0006c0007t0002 a0001c0001t0006 a0002c0002t0002 a0006c0007t0002	a0001c0001t0006g0079 a0002c0002t0002g0003 a0002c0002t0002g0004 others(20): Show a0001c0001t0006g0079 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0122 a0006c0007t0002g0003 a0006c0007t0002g0084	39	263	0.1483	201	c.622 others(216): Show c.622-771_622-770insTTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATTATTATATGTATATAAATATATATATTTATTAATATATATA AATATATATATTTATTAATAATATATATAATATATATATAATATATAATA TATAATATATAATATATATTT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909165	A A	ATATATAA others(194): Show ATATATAATATATAATATATAATATATATTTATTAATAATATATATAATA TATATATTTATTTATATATATATTATTATATATATAAATATATATATATT TATTAATATATATATAAATATATATATATTTATTAATAATATATATAATA TATATATAATATATAATATATAATATATAATATATATTTATATATAATAT AT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	207	0.0048	201	c.622 others(216): Show c.622-725_622-724insTATATAATATATAATATATAATATATATTT ATTAATAATATATATAATATATATATTTATTTATATATATATTATTATAT ATATAAATATATATATATTTATTAATATATATATAAATATATATATATTT ATTAATAATATATATAATATATATATAATATATAATATATAATATATAAT ATATATTTATATATAATATAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LUC7L_chr16_183990_234449	186374	G G	GGAGGAAC others(194): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGAGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGA GGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	301	0.0033	201	c.28 others(212): Show c.2823_*2824insTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCTCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2615		chr16	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(194): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	378	0.0026	201	c.40 others(212): Show c.4075_*4076insAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAA AGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAA AGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAA GGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAA GAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(194): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTT TCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0087 a0001c0006t0002g0087	1	378	0.0026	201	c.40 others(212): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAA AGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAA AGGAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAA GAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAGI3_chr1_113385515_113690923	113416138	A A	AATTATGT others(194): Show AATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATT ATTATGTGTAATTAATGACACATATTATTATGTGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	173	0.0058	201	c.316 others(220): Show c.316+24814_316+24815insATTATGTAATTAATGACACATATTAT TATGTGTAATTAATGACACATATTATTATGTGTAATTAATGACACATATT AATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATT AATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATT ATTATGTAATTAATGACACATATTA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416138	A A	AATTATGT others(194): Show AATTATGTAATTAATGACACATATTATTATGTGTAATTAATGACACATAT TATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02015.hp1 HG02965.hp1 others(24): Show HG01433.hp1 HG02015.hp1 HG02965.hp1 HG03098.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp1 NA18972.hp2 NA18973.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0003c0005t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(24): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0004g0172 a0001c0003t0002g0178 a0003c0005t0001g0175	27	199	0.1357	201	c.316 others(220): Show c.316+24820_316+24821insGTAATTAATGACACATATTATTATGT GTAATTAATGACACATATTAATTATGTAATTAATGACACATATTAATTAT GTAATTAATGACACATATTAATTATGTAATTAATGACACATATTAATTAT GTAATTAATGACACATATTAATTATGTAATTAATGACACATATTATTATG TAATTAATGACACATATTATTATGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(194): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATTAATATATATATTAACATATATTAATTATATATATTAATT ATATATATTAATATATATTAATTATATATATTAATTATATATATTTATAT AG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	75	0.0133	201	c.316 others(220): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATTAATATATATATTAACAT ATATTAATTATATATATTAATTATATATATTAATATATATTAATTATATA TATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(194): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATTAATATATATATTAATATATATTAATTATTTATATTAATT ATATATATTAATATATATTAATTATATATATTAATTATATATATTTATAT AG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03098.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0002g0192 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0002g0192	3	77	0.0390	201	c.316 others(220): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATTAATATATATATTAATAT ATATTAATTATTTATATTAATTATATATATTAATATATATTAATTATATA TATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(194): Show CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC AT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18982.hp1 NA18941.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0242 a0001c0001t0003g0243 a0001c0001t0001g0242 a0001c0001t0003g0243	2	256	0.0078	201	c.391 others(216): Show c.391+835_391+836insTCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3578805	T T	TCCCCAGT others(194): Show TCCCCAGTGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCT GGGGAGACCCAGCACCTCCGCAGAACCCCTCCTCAGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACCCCTCCTCAGCCCG GC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0082 a0082	a0082c0063 a0082c0063	a0082c0063t0058 a0082c0063t0058	a0082c0063t0058g0273 a0082c0063t0058g0273	1	267	0.0037	201	c.481 others(218): Show c.481+1019_481+1020insGCCGGGCTGAGGAGGGGTTCTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGAGGAGGGGT TCTGCGGAGGTGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCT GCCCACTCCACGTTCCACTGGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(194): Show CTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	85	0.0118	201	c.107 others(220): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(194): Show CTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	85	0.0118	201	c.107 others(220): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(194): Show CTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	85	0.0118	201	c.107 others(220): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar

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